Canonical Allele Identifier: CA919243036
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1566251399

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376711dup , CM000675.2:g.32376711dup GRCh38
NC_000013.10:g.32950848dup , CM000675.1:g.32950848dup GRCh37
NC_000013.9:g.31848848dup NCBI36
NG_012772.3:g.66232dup , LRG_293:g.66232dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8674dup ENSP00000434898.2:p.Arg2892LysfsTer15
ENST00000528762.2:c.*41dup ENSP00000433168.2:n.*41dup
ENST00000530893.7:c.8305dup ENSP00000499438.2:p.Arg2769LysfsTer15
ENST00000665585.2:c.*236dup ENSP00000499570.2:n.*236dup
ENST00000666593.2:c.8674dup ENSP00000499256.2:p.Arg2892LysfsTer15
ENST00000700202.2:c.8674dup ENSP00000514856.2:p.Arg2892LysfsTer15
ENST00000700202.1:c.1141dup ENSP00000514856.1:p.Arg381LysfsTer15
ENST00000700203.1:n.801dup
ENST00000380152.8:c.8674dup MANE Select ENSP00000369497.3:p.Arg2892LysfsTer15
ENST00000544455.6:c.8674dup ENSP00000439902.1:p.Arg2892LysfsTer15
ENST00000614259.2:c.8682dup ENSP00000506251.1:n.8682dup
ENST00000665585.1:c.1552dup
ENST00000680887.1:c.8674dup ENSP00000505508.1:p.Arg2892LysfsTer15
ENST00000380152.7:c.8674dup ENSP00000369497.3:p.Arg2892LysfsTer15
ENST00000528762.1:c.236dup ENSP00000433168.1:n.236dup
ENST00000544455.5:c.8674dup ENSP00000439902.1:p.Arg2892LysfsTer15
NM_000059.3:c.8674dup , LRG_293t1:c.8674dup NP_000050.2:p.Arg2892LysfsTer15
XM_011535203.1:c.8674dup XP_011533505.1:p.Arg2892LysfsTer15
XM_011535204.1:c.8578dup XP_011533506.1:p.Arg2860LysfsTer15
XM_011535205.1:c.8674dup XP_011533507.1:p.Arg2892LysfsTer15
NM_000059.4:c.8674dup MANE Select NP_000050.3:p.Arg2892LysfsTer15