Canonical Allele Identifier: CA025855

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38189
• ClinVar RCV Id: RCV000031772 ; RCV000130252 ; RCV000476614 ; RCV000985609 ; RCV000781140 ; RCV004532462
• dbSNP Id: rs151174152
• ExAC: 13:32953566 A / C
• gnomAD v2: 13-32953566-A-C
• gnomAD v3: 13-32379429-A-C
• gnomAD v4: 13-32379429-A-C
• MyVariant Identifiers: chr13:g.32953566A>C (hg19) ; chr13:g.32379429A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379429A>C , CM000675.2:g.32379429A>C	GRCh38
NC_000013.10:g.32953566A>C , CM000675.1:g.32953566A>C	GRCh37
NC_000013.9:g.31851566A>C	NCBI36
NG_012772.3:g.68950A>C , LRG_293:g.68950A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8867A>C	ENSP00000434898.2:p.Glu2956Ala
ENST00000528762.2:c.*234A>C	ENSP00000433168.2:n.*234A>C
ENST00000530893.7:c.8498A>C	ENSP00000499438.2:p.Glu2833Ala
ENST00000665585.2:c.*429A>C	ENSP00000499570.2:n.*429A>C
ENST00000666593.2:c.8867A>C	ENSP00000499256.2:p.Glu2956Ala
ENST00000700202.2:c.8867A>C	ENSP00000514856.2:p.Glu2956Ala
ENST00000700202.1:c.1334A>C	ENSP00000514856.1:p.Glu445Ala
ENST00000700203.1:n.994A>C
ENST00000380152.8:c.8867A>C MANE Select	ENSP00000369497.3:p.Glu2956Ala
ENST00000544455.6:c.8867A>C	ENSP00000439902.1:p.Glu2956Ala
ENST00000614259.2:c.8875A>C	ENSP00000506251.1:n.8875A>C
ENST00000665585.1:c.1745A>C
ENST00000680887.1:c.8867A>C	ENSP00000505508.1:p.Glu2956Ala
ENST00000380152.7:c.8867A>C	ENSP00000369497.3:p.Glu2956Ala
ENST00000528762.1:c.429A>C	ENSP00000433168.1:n.429A>C
ENST00000544455.5:c.8867A>C	ENSP00000439902.1:p.Glu2956Ala
NM_000059.3:c.8867A>C , LRG_293t1:c.8867A>C	NP_000050.2:p.Glu2956Ala
XM_011535203.1:c.8867A>C	XP_011533505.1:p.Glu2956Ala
XM_011535204.1:c.8771A>C	XP_011533506.1:p.Glu2924Ala
XM_011535205.1:c.8755-321A>C	XP_011533507.1:n.8755-321A>C
NM_000059.4:c.8867A>C MANE Select	NP_000050.3:p.Glu2956Ala