Transcript #00000037

Transcript name transcript variant 3
Gene name CHEK2 (checkpoint kinase 2)
Chromosome 22
Transcript - NCBI ID NM_001005735.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001005735.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

299 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-4C>T r.(=) p.(=)
./. - c.100C>T r.(?) p.(Gln34*)
./. - c.134C>T r.(?) p.(Thr45Met)
./. - c.176C>T r.(?) p.(Thr59Ile)
./. - c.189A>G r.(=) p.(=)
./. - c.189A>G r.(=) p.(=)
./. - c.190G>A r.(?) p.(Glu64Lys)
./. - c.190G>A r.(?) p.(Glu64Lys)
./. - c.190G>A r.(?) p.(Glu64Lys)
./. - c.190G>A r.(?) p.(Glu64Lys)
./. - c.222del r.(?) p.(Pro75Leufs*62)
./. - c.239C>A r.(?) p.(Pro80His)
./. - c.284G>C r.(?) p.(Arg95Pro)
./. - c.319+17T>C r.(=) p.(=)
./. - c.319+353G>A r.(=) p.(=)
./. - c.319+378_319+379insGAA r.(=) p.(=)
./. - c.319+380C>T r.(=) p.(=)
./. - c.319+380C>T r.(=) p.(=)
./. - c.319+381_319+382insAAGGT r.(=) p.(=)
./. - c.319+411C>T r.(=) p.(=)
./. - c.319+411C>T r.(=) p.(=)
+/+ - c.410G>A r.(?) p.(Arg137Lys)
./. - c.539G>A r.(?) p.(Arg180Gln)
./. - c.539G>A r.(?) p.(Arg180Gln)
./. - c.539G>A r.(?) p.(Arg180Gln)
./. - c.539G>A r.(?) p.(Arg180Gln)
./. - c.539G>A r.(?) p.(Arg180Gln)
./. - c.539G>A r.(?) p.(Arg180Gln)
./. - c.539G>A r.(?) p.(Arg180Gln)
./. - c.539G>A r.(?) p.(Arg180Gln)
./. - c.562C>T r.(?) p.(Arg188Trp)
./. - c.562C>T r.(?) p.(Arg188Trp)
./. - c.563G>C r.(?) p.(Arg188Pro)
./. - c.571A>G r.(?) p.(Arg191Gly)
./. - c.573+24C>T r.(=) p.(=)
./. - c.573+47A>C r.(=) p.(=)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
+?/-? - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
+?/-? - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
+?/-? - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
+?/-? - c.599T>C r.(?) p.(Ile200Thr)
./. - c.599T>C r.(?) p.(Ile200Thr)
+?/-? - c.599T>C r.(?) p.(Ile200Thr)
./. - c.609A>G r.(?) p.(Ile203Met)
./. - c.609A>G r.(?) p.(Ile203Met)
./. - c.609A>G r.(?) p.(Ile203Met)
?/? - c.609A>G r.(?) p.(Ile203Met)
./. - c.609A>G r.(?) p.(Ile203Met)
?/? - c.609A>G r.(?) p.(Ile203Met)
./. - c.609A>G r.(?) p.(Ile203Met)
?/-? - c.609A>G r.(?) p.(Ile203Met)
?/-? - c.609A>G r.(?) p.(Ile203Met)
./. - c.609A>G r.(?) p.(Ile203Met)
+/+ - c.612_613insAGAA r.(?) p.(Asp205Argfs*25)
+/. - c.612_613insAGAA r.(?) p.(Asp205Argfs*25)
+/+ - c.612_613insAGAA r.(?) p.(Asp205Argfs*25)
./. - c.628G>A r.(?) p.(Gly210Arg)
./. - c.628G>A r.(?) p.(Gly210Arg)
./. - c.628G>A r.(?) p.(Gly210Arg)
./. - c.628G>A r.(?) p.(Gly210Arg)
./. - c.628G>A r.(?) p.(Gly210Arg)
./. - c.636del r.(?) p.(Phe212Leufs*2)
./. - c.636del r.(?) p.(Phe212Leufs*2)
./. - c.668G>A r.(?) p.(Arg223His)
./. - c.668G>A r.(?) p.(Arg223His)
./. - c.668G>A r.(?) p.(Arg223His)
./. - c.668G>A r.(?) p.(Arg223His)
./. - c.668G>A r.(?) p.(Arg223His)
./. - c.670C>T r.(?) p.(Arg224Cys)
./. - c.670C>T r.(?) p.(Arg224Cys)
?/? - c.678G>C r.(?) p.(Leu226Phe)
?/? - c.678G>C r.(?) p.(Leu226Phe)
./. - c.721+3A>T r.spl? p.?
./. - c.721+3A>T r.spl? p.?
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