Canonical Allele Identifier: CA025989

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52754
• ClinVar RCV Id: RCV000114050 ; RCV000566486 ; RCV000985618 ; RCV001390603 ; RCV003460628
• dbSNP Id: rs81002802
• gnomAD v4: 13-32379914-G-A
• MyVariant Identifiers: chr13:g.32954051G>A (hg19) ; chr13:g.32379914G>A (hg38)
• PubMed: PMID:15340362 ; PMID:21702907 ; PMID:22632462 ; PMID:24156927 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379914G>A , CM000675.2:g.32379914G>A	GRCh38
NC_000013.10:g.32954051G>A , CM000675.1:g.32954051G>A	GRCh37
NC_000013.9:g.31852051G>A	NCBI36
NG_012772.3:g.69435G>A , LRG_293:g.69435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9117+1G>A	ENSP00000434898.2:n.9117+1G>A
ENST00000528762.2:c.*484+1G>A	ENSP00000433168.2:n.*484+1G>A
ENST00000530893.7:c.8748+1G>A	ENSP00000499438.2:n.8748+1G>A
ENST00000665585.2:c.*679+1G>A	ENSP00000499570.2:n.*679+1G>A
ENST00000666593.2:c.9117+1G>A	ENSP00000499256.2:n.9117+1G>A
ENST00000700202.2:c.9066+1G>A	ENSP00000514856.2:n.9066+1G>A
ENST00000700202.1:c.1533+1G>A	ENSP00000514856.1:n.1533+1G>A
ENST00000700203.1:n.1244+1G>A
ENST00000380152.8:c.9117+1G>A MANE Select	ENSP00000369497.3:n.9117+1G>A
ENST00000544455.6:c.9117+1G>A	ENSP00000439902.1:n.9117+1G>A
ENST00000614259.2:c.9125+1G>A	ENSP00000506251.1:n.9125+1G>A
ENST00000665585.1:c.1995+1G>A
ENST00000680887.1:c.9117+1G>A	ENSP00000505508.1:n.9117+1G>A
ENST00000380152.7:c.9117+1G>A	ENSP00000369497.3:n.9117+1G>A
ENST00000470094.1:c.74+1G>A
ENST00000544455.5:c.9117+1G>A	ENSP00000439902.1:n.9117+1G>A
NM_000059.3:c.9117+1G>A , LRG_293t1:c.9117+1G>A	NP_000050.2:n.9117+1G>A
XM_011535203.1:c.9117+1G>A	XP_011533505.1:n.9117+1G>A
XM_011535204.1:c.9021+1G>A	XP_011533506.1:n.9021+1G>A
NM_000059.4:c.9117+1G>A MANE Select	NP_000050.3:n.9117+1G>A