Canonical Allele Identifier: CA026167

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52841
• ClinVar RCV Id: RCV000045825 ; RCV000163366 ; RCV000114111 ; RCV001818224 ; RCV000588545
• dbSNP Id: rs80359220
• ExAC: 13:32969027 G / C
• gnomAD v2: 13-32969027-G-C
• gnomAD v3: 13-32394890-G-C
• gnomAD v4: 13-32394890-G-C
• MyVariant Identifiers: chr13:g.32969027G>C (hg19) ; chr13:g.32394890G>C (hg38)
• PubMed: PMID:10923033 ; PMID:19043619 ; PMID:21702907 ; PMID:26580448

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394890G>C , CM000675.2:g.32394890G>C	GRCh38
NC_000013.10:g.32969027G>C , CM000675.1:g.32969027G>C	GRCh37
NC_000013.9:g.31867027G>C	NCBI36
NG_012772.3:g.84411G>C , LRG_293:g.84411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9458G>C	ENSP00000434898.2:p.Gly3153Ala
ENST00000528762.2:c.*825G>C	ENSP00000433168.2:n.*825G>C
ENST00000530893.7:c.9089G>C	ENSP00000499438.2:p.Gly3030Ala
ENST00000665585.2:c.*1020G>C	ENSP00000499570.2:n.*1020G>C
ENST00000666593.2:c.*303G>C	ENSP00000499256.2:n.*303G>C
ENST00000700202.2:c.9407G>C	ENSP00000514856.2:p.Gly3136Ala
ENST00000700202.1:c.1874G>C	ENSP00000514856.1:p.Gly625Ala
ENST00000700203.1:n.1585G>C
ENST00000380152.8:c.9458G>C MANE Select	ENSP00000369497.3:p.Gly3153Ala
ENST00000544455.6:c.9458G>C	ENSP00000439902.1:p.Gly3153Ala
ENST00000614259.2:c.9466G>C	ENSP00000506251.1:n.9466G>C
ENST00000665585.1:c.2336G>C
ENST00000666593.1:c.480G>C	ENSP00000499256.1:n.480G>C
ENST00000680887.1:c.9458G>C	ENSP00000505508.1:p.Gly3153Ala
ENST00000380152.7:c.9458G>C	ENSP00000369497.3:p.Gly3153Ala
ENST00000470094.1:c.415G>C
ENST00000544455.5:c.9458G>C	ENSP00000439902.1:p.Gly3153Ala
NM_000059.3:c.9458G>C , LRG_293t1:c.9458G>C	NP_000050.2:p.Gly3153Ala
XM_011535203.1:c.9458G>C	XP_011533505.1:p.Gly3153Ala
XM_011535204.1:c.9362G>C	XP_011533506.1:p.Gly3121Ala
NM_000059.4:c.9458G>C MANE Select	NP_000050.3:p.Gly3153Ala