All transcript variants in gene CHEK2

Information The variants shown are described using the transcript reference sequence.

299 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-4C>T r.(=) p.(=) g.29130713G>A - CHEK2_000074 - - - - Despoina Kalfakakou
./. - c.100C>T r.(?) p.(Gln34*) g.29130610G>A - CHEK2_000068 - - - - Despoina Kalfakakou
./. - c.134C>T r.(?) p.(Thr45Met) g.29130576G>A - CHEK2_000071 - - - - Despoina Kalfakakou
./. - c.176C>T r.(?) p.(Thr59Ile) g.29130534G>A - CHEK2_000067 - - - - Despoina Kalfakakou
./. - c.189A>G r.(=) p.(=) g.29130521T>C - CHEK2_000009 - - - - Despoina Kalfakakou
./. - c.189A>G r.(=) p.(=) g.29130521T>C - CHEK2_000009 - - - - Despoina Kalfakakou
./. - c.190G>A r.(?) p.(Glu64Lys) g.29130520C>T - CHEK2_000035 - - - - Despoina Kalfakakou
./. - c.190G>A r.(?) p.(Glu64Lys) g.29130520C>T - CHEK2_000035 - - - - Despoina Kalfakakou
./. - c.190G>A r.(?) p.(Glu64Lys) g.29130520C>T - CHEK2_000035 - - - - Despoina Kalfakakou
./. - c.190G>A r.(?) p.(Glu64Lys) g.29130520C>T - CHEK2_000035 - - - - Despoina Kalfakakou
./. - c.222del r.(?) p.(Pro75Leufs*35) g.29130488del - CHEK2_000029 - - - - Despoina Kalfakakou
./. - c.239C>A r.(?) p.(Pro80His) g.29130471G>T - CHEK2_000027 - - - - Despoina Kalfakakou
./. - c.284G>C r.(?) p.(Arg95Pro) g.29130426C>G - CHEK2_000052 - - - - Despoina Kalfakakou
./. - c.319+17T>C r.(=) p.(=) g.29130374A>G - CHEK2_000048 - - - - Despoina Kalfakakou
./. - c.319+353G>A r.(=) p.(=) g.29130038C>T - CHEK2_000069 rs17880388 - - - Despoina Kalfakakou
./. - c.319+378_319+379insGAA r.(=) p.(=) g.29130012_29130013insTTC - CHEK2_000078 - - - - Despoina Kalfakakou
./. - c.319+380C>T r.(=) p.(=) g.29130011G>A - CHEK2_000026 - - - - Despoina Kalfakakou
./. - c.319+380C>T r.(=) p.(=) g.29130011G>A - CHEK2_000026 - - - - Despoina Kalfakakou
./. - c.319+381_319+382insAAGGT r.(=) p.(=) g.29130009_29130010insACCTT - CHEK2_000077 - - - - Despoina Kalfakakou
./. - c.319+411C>T r.(=) p.(=) g.29129980G>A - CHEK2_000066 - - - - Despoina Kalfakakou
./. - c.319+411C>T r.(=) p.(=) g.29129980G>A - CHEK2_000066 - - - - Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) g.29121265C>T - CHEK2_000008 - - - - Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) g.29121265C>T - CHEK2_000008 - - - - Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) g.29121265C>T - CHEK2_000008 - - - - Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) g.29121265C>T - CHEK2_000008 - Germline - - Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) g.29121265C>T - CHEK2_000008 - - - - Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) g.29121265C>T - CHEK2_000008 - - - - Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) g.29121265C>T - CHEK2_000008 - - - - Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) g.29121265C>T - CHEK2_000008 - - - - Despoina Kalfakakou
./. - c.410G>A r.(?) p.(Arg137Gln) g.29121265C>T - CHEK2_000008 - - - - Despoina Kalfakakou
./. - c.433C>T r.(?) p.(Arg145Trp) g.29121242G>A - CHEK2_000025 - - - - Despoina Kalfakakou
./. - c.433C>T r.(?) p.(Arg145Trp) g.29121242G>A - CHEK2_000025 - - - - Despoina Kalfakakou
./. - c.434G>C r.(?) p.(Arg145Pro) g.29121241C>G - CHEK2_000058 - - - - Despoina Kalfakakou
./. - c.442A>G r.(?) p.(Arg148Gly) g.29121233T>C - CHEK2_000057 - - - - Despoina Kalfakakou
./. - c.444+24C>T r.(=) p.(=) g.29121207G>A - CHEK2_000065 - - - - Despoina Kalfakakou
./. - c.444+47A>C r.(=) p.(=) g.29121184T>G - CHEK2_000076 - - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
+?/-? - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G [ Delimitsou et al 2019] CHEK2_000007 - Germline ? No Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 - Germline ? No Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 - Germline ? No Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 - Germline ? No Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 - Germline no No Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000007 rs17879961 - - - Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - - - - Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - Germline ? No Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - Germline ? No Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - Germline ? No Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - - - - Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - - - - Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - - - - Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - Germline - - Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - - - - Despoina Kalfakakou
./. - c.480A>G r.(?) p.(Ile160Met) g.29121077T>C - CHEK2_000006 - - - - Despoina Kalfakakou
./. - c.483_484insAGAA r.(?) p.(Asp162Argfs*25) g.29121073_29121074insTTCT - CHEK2_000081 - Germline ? No Despoina Kalfakakou
./. - c.483_484insAGAA r.(?) p.(Asp162Argfs*25) g.29121073_29121074insTTCT - CHEK2_000081 - Germline ? No Despoina Kalfakakou
./. - c.483_484insAGAA r.(?) p.(Asp162Argfs*25) g.29121073_29121074insTTCT - CHEK2_000081 - Germline ? - Despoina Kalfakakou
./. - c.499G>A r.(?) p.(Gly167Arg) g.29121058C>T - CHEK2_000024 rs72552322 - - - Despoina Kalfakakou
./. - c.499G>A r.(?) p.(Gly167Arg) g.29121058C>T - CHEK2_000024 rs72552322 - - - Despoina Kalfakakou
./. - c.499G>A r.(?) p.(Gly167Arg) g.29121058C>T - CHEK2_000024 rs72552322 - - - Despoina Kalfakakou
./. - c.499G>A r.(?) p.(Gly167Arg) g.29121058C>T - CHEK2_000024 rs72552322 - - - Despoina Kalfakakou
./. - c.499G>A r.(?) p.(Gly167Arg) g.29121058C>T - CHEK2_000024 rs72552322 - - - Despoina Kalfakakou
./. - c.507del r.(?) p.(Phe169Leufs*2) g.29121050del - CHEK2_000023 - - - - Despoina Kalfakakou
./. - c.507del r.(?) p.(Phe169Leufs*2) g.29121050del - CHEK2_000023 - - - - Despoina Kalfakakou
./. - c.539G>A r.(?) p.(Arg180His) g.29121018C>T - CHEK2_000005 - - - - Despoina Kalfakakou
./. - c.539G>A r.(?) p.(Arg180His) g.29121018C>T - CHEK2_000005 - - - - Despoina Kalfakakou
./. - c.539G>A r.(?) p.(Arg180His) g.29121018C>T - CHEK2_000005 - - - - Despoina Kalfakakou
./. - c.539G>A r.(?) p.(Arg180His) g.29121018C>T - CHEK2_000005 - - - - Despoina Kalfakakou
./. - c.539G>A r.(?) p.(Arg180His) g.29121018C>T - CHEK2_000005 - - - - Despoina Kalfakakou
./. - c.541C>T r.(?) p.(Arg181Cys) g.29121016G>A - CHEK2_000045 - - - - Despoina Kalfakakou
./. - c.541C>T r.(?) p.(Arg181Cys) g.29121016G>A - CHEK2_000045 - - - - Despoina Kalfakakou
./. - c.549G>C r.(?) p.(Leu183Phe) g.29121008C>G - CHEK2_000080 - Germline ? N/A Despoina Kalfakakou
./. - c.549G>C r.(?) p.(Leu183Phe) g.29121008C>G - CHEK2_000080 - Germline ? No Despoina Kalfakakou
./. - c.592+3A>T r.spl? p.? g.29120962T>A - CHEK2_000031 - - - - Despoina Kalfakakou
./. - c.592+3A>T r.spl? p.? g.29120962T>A - CHEK2_000031 - - - - Despoina Kalfakakou
./. - c.592+50A>T r.(=) p.(=) g.29120915T>A - CHEK2_000004 rs17881298 - - - Despoina Kalfakakou
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