Canonical Allele Identifier: CA025880
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41571
dbSNP Id: rs139052578
COSMIC: COSM109341

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379503G>A , CM000675.2:g.32379503G>A GRCh38
NC_000013.10:g.32953640G>A , CM000675.1:g.32953640G>A GRCh37
NC_000013.9:g.31851640G>A NCBI36
NG_012772.3:g.69024G>A , LRG_293:g.69024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8941G>A ENSP00000434898.2:p.Glu2981Lys
ENST00000528762.2:c.*308G>A ENSP00000433168.2:n.*308G>A
ENST00000530893.7:c.8572G>A ENSP00000499438.2:p.Glu2858Lys
ENST00000665585.2:c.*503G>A ENSP00000499570.2:n.*503G>A
ENST00000666593.2:c.8941G>A ENSP00000499256.2:p.Glu2981Lys
ENST00000700202.2:c.8941G>A ENSP00000514856.2:p.Glu2981Lys
ENST00000700202.1:c.1408G>A ENSP00000514856.1:p.Glu470Lys
ENST00000700203.1:n.1068G>A
ENST00000380152.8:c.8941G>A MANE Select ENSP00000369497.3:p.Glu2981Lys
ENST00000544455.6:c.8941G>A ENSP00000439902.1:p.Glu2981Lys
ENST00000614259.2:c.8949G>A ENSP00000506251.1:n.8949G>A
ENST00000665585.1:c.1819G>A
ENST00000680887.1:c.8941G>A ENSP00000505508.1:p.Glu2981Lys
ENST00000380152.7:c.8941G>A ENSP00000369497.3:p.Glu2981Lys
ENST00000544455.5:c.8941G>A ENSP00000439902.1:p.Glu2981Lys
NM_000059.3:c.8941G>A , LRG_293t1:c.8941G>A NP_000050.2:p.Glu2981Lys
XM_011535203.1:c.8941G>A XP_011533505.1:p.Glu2981Lys
XM_011535204.1:c.8845G>A XP_011533506.1:p.Glu2949Lys
XM_011535205.1:c.8755-247G>A XP_011533507.1:n.8755-247G>A
NM_000059.4:c.8941G>A MANE Select NP_000050.3:p.Glu2981Lys