Canonical Allele Identifier: CA025274

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 91492
• ClinVar RCV Id: RCV000077009 ; RCV000160142 ; RCV000197789 ; RCV000509715 ; RCV000770731 ; RCV003460727
• dbSNP Id: rs398122591
• ExAC: 13:32932047 G / A
• gnomAD v2: 13-32932047-G-A
• gnomAD v4: 13-32357910-G-A
• MyVariant Identifiers: chr13:g.32932047G>A (hg19) ; chr13:g.32357910G>A (hg38)
• PubMed: PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357910G>A , CM000675.2:g.32357910G>A	GRCh38
NC_000013.10:g.32932047G>A , CM000675.1:g.32932047G>A	GRCh37
NC_000013.9:g.31830047G>A	NCBI36
NG_012772.3:g.47431G>A , LRG_293:g.47431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7786G>A	ENSP00000434898.2:p.Gly2596Arg
ENST00000528762.2:c.7786G>A	ENSP00000433168.2:p.Gly2596Arg
ENST00000530893.7:c.7417G>A	ENSP00000499438.2:p.Gly2473Arg
ENST00000665585.2:c.7786G>A	ENSP00000499570.2:p.Gly2596Arg
ENST00000666593.2:c.7786G>A	ENSP00000499256.2:p.Gly2596Arg
ENST00000700202.2:c.7786G>A	ENSP00000514856.2:p.Gly2596Arg
ENST00000700202.1:c.253G>A	ENSP00000514856.1:p.Gly85Arg
ENST00000380152.8:c.7786G>A MANE Select	ENSP00000369497.3:p.Gly2596Arg
ENST00000544455.6:c.7786G>A	ENSP00000439902.1:p.Gly2596Arg
ENST00000614259.2:c.7786G>A	ENSP00000506251.1:p.Gly2596Arg
ENST00000665585.1:c.351G>A
ENST00000680887.1:c.7786G>A	ENSP00000505508.1:p.Gly2596Arg
ENST00000380152.7:c.7786G>A	ENSP00000369497.3:p.Gly2596Arg
ENST00000544455.5:c.7786G>A	ENSP00000439902.1:p.Gly2596Arg
ENST00000614259.1:n.7786G>A
NM_000059.3:c.7786G>A , LRG_293t1:c.7786G>A	NP_000050.2:p.Gly2596Arg
XM_011535203.1:c.7786G>A	XP_011533505.1:p.Gly2596Arg
XM_011535204.1:c.7690G>A	XP_011533506.1:p.Gly2564Arg
XM_011535205.1:c.7786G>A	XP_011533507.1:p.Gly2596Arg
NM_000059.4:c.7786G>A MANE Select	NP_000050.3:p.Gly2596Arg