Canonical Allele Identifier: CA026312
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52907
ClinVar RCV Id: RCV000112816
dbSNP Id: rs11571832

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398356A>C , CM000675.2:g.32398356A>C GRCh38
NC_000013.10:g.32972493A>C , CM000675.1:g.32972493A>C GRCh37
NC_000013.9:g.31870493A>C NCBI36
NG_012772.3:g.87877A>C , LRG_293:g.87877A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*366A>C ENSP00000434898.2:n.*366A>C
ENST00000528762.2:c.*1210A>C ENSP00000433168.2:n.*1210A>C
ENST00000530893.7:c.9474A>C ENSP00000499438.2:p.Pro3158=
ENST00000665585.2:c.*1405A>C ENSP00000499570.2:n.*1405A>C
ENST00000700202.2:c.9792A>C ENSP00000514856.2:p.Pro3264=
ENST00000700202.1:c.2259A>C ENSP00000514856.1:p.Pro753=
ENST00000700203.1:n.1970A>C
ENST00000380152.8:c.9843A>C MANE Select ENSP00000369497.3:p.Pro3281=
ENST00000544455.6:c.9843A>C ENSP00000439902.1:p.Pro3281=
ENST00000614259.2:c.9851A>C ENSP00000506251.1:n.9851A>C
ENST00000680887.1:c.9843A>C ENSP00000505508.1:p.Pro3281=
ENST00000380152.7:c.9843A>C ENSP00000369497.3:p.Pro3281=
ENST00000533776.1:n.431A>C
ENST00000544455.5:c.9843A>C ENSP00000439902.1:p.Pro3281=
NM_000059.3:c.9843A>C , LRG_293t1:c.9843A>C NP_000050.2:p.Pro3281=
XM_011535203.1:c.9843A>C XP_011533505.1:p.Pro3281=
XM_011535204.1:c.9747A>C XP_011533506.1:p.Pro3249=
NM_000059.4:c.9843A>C MANE Select NP_000050.3:p.Pro3281=