Canonical Allele Identifier: CA026069

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 156179
• ClinVar RCV Id: RCV002465535 ; RCV003492633
• dbSNP Id: rs574271678
• ExAC: 13:32968826 G / C
• gnomAD v2: 13-32968826-G-C
• gnomAD v3: 13-32394689-G-C
• gnomAD v4: 13-32394689-G-C
• MyVariant Identifiers: chr13:g.32968826G>C (hg19) ; chr13:g.32394689G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394689G>C , CM000675.2:g.32394689G>C	GRCh38
NC_000013.10:g.32968826G>C , CM000675.1:g.32968826G>C	GRCh37
NC_000013.9:g.31866826G>C	NCBI36
NG_012772.3:g.84210G>C , LRG_293:g.84210G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9257G>C	ENSP00000434898.2:p.Gly3086Ala
ENST00000528762.2:c.*624G>C	ENSP00000433168.2:n.*624G>C
ENST00000530893.7:c.8888G>C	ENSP00000499438.2:p.Gly2963Ala
ENST00000665585.2:c.*819G>C	ENSP00000499570.2:n.*819G>C
ENST00000666593.2:c.*102G>C	ENSP00000499256.2:n.*102G>C
ENST00000700202.2:c.9206G>C	ENSP00000514856.2:p.Gly3069Ala
ENST00000700202.1:c.1673G>C	ENSP00000514856.1:p.Gly558Ala
ENST00000700203.1:n.1384G>C
ENST00000380152.8:c.9257G>C MANE Select	ENSP00000369497.3:p.Gly3086Ala
ENST00000544455.6:c.9257G>C	ENSP00000439902.1:p.Gly3086Ala
ENST00000614259.2:c.9265G>C	ENSP00000506251.1:n.9265G>C
ENST00000665585.1:c.2135G>C
ENST00000666593.1:c.279G>C	ENSP00000499256.1:n.279G>C
ENST00000680887.1:c.9257G>C	ENSP00000505508.1:p.Gly3086Ala
ENST00000380152.7:c.9257G>C	ENSP00000369497.3:p.Gly3086Ala
ENST00000470094.1:c.214G>C
ENST00000544455.5:c.9257G>C	ENSP00000439902.1:p.Gly3086Ala
NM_000059.3:c.9257G>C , LRG_293t1:c.9257G>C	NP_000050.2:p.Gly3086Ala
XM_011535203.1:c.9257G>C	XP_011533505.1:p.Gly3086Ala
XM_011535204.1:c.9161G>C	XP_011533506.1:p.Gly3054Ala
NM_000059.4:c.9257G>C MANE Select	NP_000050.3:p.Gly3086Ala