All transcript variants in gene BRCA2

Information The variants shown are described using the NM_000059.3 transcript reference sequence.

665 entries on 7 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.10G>T r.(?) p.(Gly4*) g.32890607G>T - BRCA2_000227 - Germline yes No Despoina Kalfakakou
./. - c.13T>C r.(?) p.(Ser5Pro) g.32890610T>C - BRCA2_000073 - - - - Despoina Kalfakakou
./. - c.28A>G r.(?) p.(Thr10Ala) g.32890625A>G - BRCA2_000178 - - - - Despoina Kalfakakou
./. - c.67+51C>A r.(=) p.(=) g.32890715C>A - BRCA2_000037 - - - - Despoina Kalfakakou
./. - c.68-42T>C r.(=) p.(=) g.32893172T>C - BRCA2_000085 - - - - Despoina Kalfakakou
./. - c.68-42T>C r.(=) p.(=) g.32893172T>C - BRCA2_000085 - - - - Despoina Kalfakakou
./. - c.68-16T>A r.(=) p.(=) g.32893198T>A - BRCA2_000122 - - - - Despoina Kalfakakou
./. - c.68-16T>A r.(=) p.(=) g.32893198T>A - BRCA2_000122 - - - - Despoina Kalfakakou
./. - c.68-16T>C r.(=) p.(=) g.32893198T>C - BRCA2_000086 - - - - Despoina Kalfakakou
./. - c.68-16T>C r.(=) p.(=) g.32893198T>C - BRCA2_000086 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
-/- - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - Germline ? No Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - - - - Despoina Kalfakakou
./. - c.77C>T r.(?) p.(Pro26Leu) g.32893223C>T - BRCA2_000210 - - - - Despoina Kalfakakou
./. - c.117T>A r.(=) p.(=) g.32893263T>A - BRCA2_000199 - - - - Despoina Kalfakakou
./. - c.125A>G r.(?) p.(Tyr42Cys) g.32893271A>G - BRCA2_000087 rs4987046 - - - Despoina Kalfakakou
./. - c.125A>G r.(?) p.(Tyr42Cys) g.32893271A>G - BRCA2_000087 rs4987046 - - - Despoina Kalfakakou
./. - c.125A>G r.(?) p.(Tyr42Cys) g.32893271A>G - BRCA2_000087 rs4987046 - - - Despoina Kalfakakou
./. - c.125A>G r.(?) p.(Tyr42Cys) g.32893271A>G - BRCA2_000087 rs4987046 - - - Despoina Kalfakakou
./. - c.125A>G r.(?) p.(Tyr42Cys) g.32893271A>G - BRCA2_000087 rs4987046 - - - Despoina Kalfakakou
./. - c.125A>G r.(?) p.(Tyr42Cys) g.32893271A>G - BRCA2_000087 rs4987046 - - - Despoina Kalfakakou
./. - c.125A>G r.(?) p.(Tyr42Cys) g.32893271A>G - BRCA2_000087 rs4987046 - - - Despoina Kalfakakou
./. - c.198A>G r.(=) p.(=) g.32893344A>G - BRCA2_000074 rs28897700 - - - Despoina Kalfakakou
./. - c.198A>G r.(=) p.(=) g.32893344A>G - BRCA2_000074 rs28897700 - - - Despoina Kalfakakou
./. - c.198A>G r.(=) p.(=) g.32893344A>G - BRCA2_000074 rs28897700 - - - Despoina Kalfakakou
./. - c.198A>G r.(=) p.(=) g.32893344A>G - BRCA2_000074 rs28897700 - - - Despoina Kalfakakou
./. - c.198A>G r.(=) p.(=) g.32893344A>G - BRCA2_000074 rs28897700 - - - Despoina Kalfakakou
./. - c.244A>C r.(?) p.(Lys82Gln) g.32893390A>C - BRCA2_000189 - - - - Despoina Kalfakakou
./. - c.244A>C r.(?) p.(Lys82Gln) g.32893390A>C - BRCA2_000189 - - - - Despoina Kalfakakou
./. - c.267G>A r.(=) p.(=) g.32893413G>A - BRCA2_000162 - - - - Despoina Kalfakakou
./. - c.267G>A r.(=) p.(=) g.32893413G>A - BRCA2_000162 - - - - Despoina Kalfakakou
./. - c.267G>A r.(=) p.(=) g.32893413G>A - BRCA2_000162 - - - - Despoina Kalfakakou
./. - c.316+12A>G r.(=) p.(=) g.32893474A>G - BRCA2_000038 - - - - Despoina Kalfakakou
./. - c.316+12A>G r.(=) p.(=) g.32893474A>G - BRCA2_000038 - - - - Despoina Kalfakakou
./. - c.316+32A>G r.(=) p.(=) g.32893494A>G - BRCA2_000147 - - - - Despoina Kalfakakou
./. - c.316+33C>G r.(=) p.(=) g.32893495C>G - BRCA2_000123 - - - - Despoina Kalfakakou
./. - c.375T>A r.(?) p.(Asp125Glu) g.32899271T>A - BRCA2_000212 rs80358616 - - - Despoina Kalfakakou
./. - c.425+33A>G r.(=) p.(=) g.32899354A>G - BRCA2_000206 - - - - Despoina Kalfakakou
./. - c.425+37A>G r.(=) p.(=) g.32899358A>G - BRCA2_000039 - - - - Despoina Kalfakakou
./. - c.426-7A>G r.(=) p.(=) g.32900231A>G - BRCA2_000148 - - - - Despoina Kalfakakou
./. - c.438A>G r.(=) p.(=) g.32900250A>G - BRCA2_000029 - - - - Despoina Kalfakakou
./. - c.438A>G r.(=) p.(=) g.32900250A>G - BRCA2_000029 - - - - Despoina Kalfakakou
./. - c.440A>G r.(?) p.(Gln147Arg) g.32900252A>G - BRCA2_000224 rs80358674 - - - Despoina Kalfakakou
./. - c.475+26T>C r.(=) p.(=) g.32900313T>C - BRCA2_000111 - - - - Despoina Kalfakakou
./. - c.475+26T>C r.(=) p.(=) g.32900313T>C - BRCA2_000111 - - - - Despoina Kalfakakou
./. - c.475+26T>C r.(=) p.(=) g.32900313T>C - BRCA2_000111 - - - - Despoina Kalfakakou
./. - c.475+26T>C r.(=) p.(=) g.32900313T>C - BRCA2_000111 - - - - Despoina Kalfakakou
./. - c.517-30T>C r.(=) p.(=) g.32900606T>C - BRCA2_000221 - - - - Despoina Kalfakakou
./. - c.517-19C>T r.(=) p.(=) g.32900617C>T - BRCA2_000108 rs11571623 - - - Despoina Kalfakakou
./. - c.536_537insT r.(?) p.(Ile180Tyrfs*3) g.32900655_32900656insT - BRCA2_000174 - - - - Despoina Kalfakakou
./. - c.631+25C>T r.(=) p.(=) g.32900775C>T - BRCA2_000040 - - - - Despoina Kalfakakou
./. - c.631+25C>T r.(=) p.(=) g.32900775C>T - BRCA2_000040 - - - - Despoina Kalfakakou
./. - c.631+25C>T r.(=) p.(=) g.32900775C>T - BRCA2_000040 - - - - Despoina Kalfakakou
./. - c.631+25C>T r.(=) p.(=) g.32900775C>T - BRCA2_000040 - - - - Despoina Kalfakakou
./. - c.631+43G>T r.(=) p.(=) g.32900793G>T - BRCA2_000088 - - - - Despoina Kalfakakou
./. - c.631+43G>T r.(=) p.(=) g.32900793G>T - BRCA2_000088 - - - - Despoina Kalfakakou
./. - c.631+43G>T r.(=) p.(=) g.32900793G>T - BRCA2_000088 - - - - Despoina Kalfakakou
./. - c.631+43G>T r.(=) p.(=) g.32900793G>T - BRCA2_000088 - - - - Despoina Kalfakakou
./. - c.631+47A>G r.(=) p.(=) g.32900797A>G - BRCA2_000131 - - - - Despoina Kalfakakou
./. - c.632-4_632-3del r.spl? p.? g.32903576_32903577del - BRCA2_000089 - - - - Despoina Kalfakakou
./. - c.632-4_632-3del r.spl? p.? g.32903576_32903577del - BRCA2_000089 - - - - Despoina Kalfakakou
./. - c.682-32A>G r.(=) p.(=) g.32905024A>G - BRCA2_000030 - - - - Despoina Kalfakakou
./. - c.682-32A>G r.(=) p.(=) g.32905024A>G - BRCA2_000030 - - - - Despoina Kalfakakou
./. - c.682-32A>G r.(=) p.(=) g.32905024A>G - BRCA2_000030 - - - - Despoina Kalfakakou
./. - c.682-32A>G r.(=) p.(=) g.32905024A>G - BRCA2_000030 - - - - Despoina Kalfakakou
./. - c.682-32A>G r.(=) p.(=) g.32905024A>G - BRCA2_000030 - - - - Despoina Kalfakakou
./. - c.682-32A>G r.(=) p.(=) g.32905024A>G - BRCA2_000030 - - - - Despoina Kalfakakou
./. - c.710A>G r.(?) p.(Asp237Gly) g.32905084A>G - BRCA2_000137 - - - - Despoina Kalfakakou
./. - c.794-45A>G r.(=) p.(=) g.32906364A>G - BRCA2_000072 - - - - Despoina Kalfakakou
./. - c.794-43G>A r.(=) p.(=) g.32906366G>A - BRCA2_000132 - - - - Despoina Kalfakakou
./. - c.800G>A r.(?) p.(Gly267Glu) g.32906415G>A - BRCA2_000182 rs80359036 - - - Despoina Kalfakakou
./. - c.856T>C r.(?) p.(Ser286Pro) g.32906471T>C - BRCA2_000121 rs80359111 - - - Despoina Kalfakakou
./. - c.856T>C r.(?) p.(Ser286Pro) g.32906471T>C - BRCA2_000121 rs80359111 - - - Despoina Kalfakakou
./. - c.905C>T r.(?) p.(Thr302Ile) g.32906520C>T - BRCA2_000090 rs80359158 - - - Despoina Kalfakakou
./. - c.978C>A r.(?) p.(Ser326Arg) g.32906593C>A - BRCA2_000041 rs28897706 - - - Despoina Kalfakakou
./. - c.978C>A r.(?) p.(Ser326Arg) g.32906593C>A - BRCA2_000041 rs28897706 - - - Despoina Kalfakakou
./. - c.978C>A r.(?) p.(Ser326Arg) g.32906593C>A - BRCA2_000041 rs28897706 - - - Despoina Kalfakakou
./. - c.978C>A r.(?) p.(Ser326Arg) g.32906593C>A - BRCA2_000041 rs28897706 - - - Despoina Kalfakakou
./. - c.978C>A r.(?) p.(Ser326Arg) g.32906593C>A - BRCA2_000041 rs28897706 - - - Despoina Kalfakakou
./. - c.978C>A r.(?) p.(Ser326Arg) g.32906593C>A - BRCA2_000041 rs28897706 - - - Despoina Kalfakakou
./. - c.978C>A r.(?) p.(Ser326Arg) g.32906593C>A - BRCA2_000041 rs28897706 - - - Despoina Kalfakakou
./. - c.992A>T r.(?) p.(Lys331Ile) g.32906607A>T - BRCA2_000154 rs80359253 - - - Despoina Kalfakakou
./. - c.1012G>A r.(?) p.(Ala338Thr) g.32906627G>A - BRCA2_000109 rs80358396 - - - Despoina Kalfakakou
?/? - c.1022G>A r.(?) p.(Cys341Tyr) g.32906637G>A - BRCA2_000239 - Germline - N/A Despoina Kalfakakou
?/? - c.1022G>A r.(?) p.(Cys341Tyr) g.32906637G>A - BRCA2_000239 - Germline ? N/A Despoina Kalfakakou
./. - c.1117C>T r.(?) p.(Gln373*) g.32906732C>T - BRCA2_000124 - - - - Despoina Kalfakakou
./. - c.1127T>G r.(?) p.(Phe376Cys) g.32906742T>G - BRCA2_000050 rs80358410 - - - Despoina Kalfakakou
./. - c.1151C>T r.(?) p.(Ser384Phe) g.32906766C>T - BRCA2_000031 rs41293475 - - - Despoina Kalfakakou
./. - c.1151C>T r.(?) p.(Ser384Phe) g.32906766C>T - BRCA2_000031 rs41293475 - - - Despoina Kalfakakou
./. - c.1151C>T r.(?) p.(Ser384Phe) g.32906766C>T - BRCA2_000031 rs41293475 - - - Despoina Kalfakakou
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