Canonical Allele Identifier: CA025965

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52743
• ClinVar RCV Id: RCV000114043 ; RCV000129046 ; RCV000413118 ; RCV001353636 ; RCV001083149 ; RCV000587355
• dbSNP Id: rs56179254
• ExAC: 13:32954018 G / A
• gnomAD v2: 13-32954018-G-A
• gnomAD v3: 13-32379881-G-A
• gnomAD v4: 13-32379881-G-A
• MyVariant Identifiers: chr13:g.32954018G>A (hg19) ; chr13:g.32379881G>A (hg38)
• PubMed: PMID:10923033 ; PMID:18284688 ; PMID:19043619 ; PMID:20960228 ; PMID:22228431 ; PMID:23469205 ; PMID:24884479 ; PMID:25682074

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379881G>A , CM000675.2:g.32379881G>A	GRCh38
NC_000013.10:g.32954018G>A , CM000675.1:g.32954018G>A	GRCh37
NC_000013.9:g.31852018G>A	NCBI36
NG_012772.3:g.69402G>A , LRG_293:g.69402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9085G>A	ENSP00000434898.2:p.Ala3029Thr
ENST00000528762.2:c.*452G>A	ENSP00000433168.2:n.*452G>A
ENST00000530893.7:c.8716G>A	ENSP00000499438.2:p.Ala2906Thr
ENST00000665585.2:c.*647G>A	ENSP00000499570.2:n.*647G>A
ENST00000666593.2:c.9085G>A	ENSP00000499256.2:p.Ala3029Thr
ENST00000700202.2:c.9034G>A	ENSP00000514856.2:p.Ala3012Thr
ENST00000700202.1:c.1501G>A	ENSP00000514856.1:p.Ala501Thr
ENST00000700203.1:n.1212G>A
ENST00000380152.8:c.9085G>A MANE Select	ENSP00000369497.3:p.Ala3029Thr
ENST00000544455.6:c.9085G>A	ENSP00000439902.1:p.Ala3029Thr
ENST00000614259.2:c.9093G>A	ENSP00000506251.1:n.9093G>A
ENST00000665585.1:c.1963G>A
ENST00000680887.1:c.9085G>A	ENSP00000505508.1:p.Ala3029Thr
ENST00000380152.7:c.9085G>A	ENSP00000369497.3:p.Ala3029Thr
ENST00000470094.1:c.42G>A
ENST00000544455.5:c.9085G>A	ENSP00000439902.1:p.Ala3029Thr
NM_000059.3:c.9085G>A , LRG_293t1:c.9085G>A	NP_000050.2:p.Ala3029Thr
XM_011535203.1:c.9085G>A	XP_011533505.1:p.Ala3029Thr
XM_011535204.1:c.8989G>A	XP_011533506.1:p.Ala2997Thr
NM_000059.4:c.9085G>A MANE Select	NP_000050.3:p.Ala3029Thr