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
ENST00000380152.8:c.9843A>C MANE Select ENSP00000369497.3:p.Pro3281=
ENST00000544455.6:c.9843A>C ENSP00000439902.1:p.Pro3281=
ENST00000614259.2:n.9851A>C ENSP00000506251.1:p.=
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=