Canonical Allele Identifier: CA276834
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 209866
ClinVar RCV Id: RCV000191814
dbSNP Id: rs10492396

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32384750G>A , CM000675.2:g.32384750G>A GRCh38
NC_000013.10:g.32958887G>A , CM000675.1:g.32958887G>A GRCh37
NC_000013.9:g.31856887G>A NCBI36
NG_012772.3:g.74271G>A , LRG_293:g.74271G>A

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.9256+4605G>A , LRG_293t1:c.9256+4605G>A NP_000050.2:p.=
XM_011535203.1:c.9256+4605G>A XP_011533505.1:p.=
XM_011535204.1:c.9160+4605G>A XP_011533506.1:p.=
ENST00000380152.7:c.9256+4605G>A ENSP00000369497.3:p.=
ENST00000400497.2:n.91G>A
ENST00000470094.1:n.213+4605G>A
ENST00000544455.5:c.9256+4605G>A ENSP00000439902.1:p.=