Canonical Allele Identifier: CA026271
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91532
dbSNP Id: rs398122620

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398211G>A , CM000675.2:g.32398211G>A GRCh38
NC_000013.10:g.32972348G>A , CM000675.1:g.32972348G>A GRCh37
NC_000013.9:g.31870348G>A NCBI36
NG_012772.3:g.87732G>A , LRG_293:g.87732G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*221G>A ENSP00000434898.2:n.*221G>A
ENST00000528762.2:c.*1065G>A ENSP00000433168.2:n.*1065G>A
ENST00000530893.7:c.9329G>A ENSP00000499438.2:p.Cys3110Tyr
ENST00000665585.2:c.*1260G>A ENSP00000499570.2:n.*1260G>A
ENST00000700202.2:c.9647G>A ENSP00000514856.2:p.Cys3216Tyr
ENST00000700202.1:c.2114G>A ENSP00000514856.1:p.Cys705Tyr
ENST00000700203.1:n.1825G>A
ENST00000380152.8:c.9698G>A MANE Select ENSP00000369497.3:p.Cys3233Tyr
ENST00000544455.6:c.9698G>A ENSP00000439902.1:p.Cys3233Tyr
ENST00000614259.2:c.9706G>A ENSP00000506251.1:n.9706G>A
ENST00000665585.1:c.2576G>A
ENST00000680887.1:c.9698G>A ENSP00000505508.1:p.Cys3233Tyr
ENST00000380152.7:c.9698G>A ENSP00000369497.3:p.Cys3233Tyr
ENST00000470094.1:c.781G>A
ENST00000533776.1:n.286G>A
ENST00000544455.5:c.9698G>A ENSP00000439902.1:p.Cys3233Tyr
NM_000059.3:c.9698G>A , LRG_293t1:c.9698G>A NP_000050.2:p.Cys3233Tyr
XM_011535203.1:c.9698G>A XP_011533505.1:p.Cys3233Tyr
XM_011535204.1:c.9602G>A XP_011533506.1:p.Cys3201Tyr
NM_000059.4:c.9698G>A MANE Select NP_000050.3:p.Cys3233Tyr