Canonical Allele Identifier: CA6941257

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 230489
• ClinVar RCV Id: RCV000215245 ; RCV000232530 ; RCV000307069 ; RCV000503308 ; RCV000662587 ; RCV003477718
• dbSNP Id: rs755783122
• ExAC: 13:32945135 G / A
• gnomAD v2: 13-32945135-G-A
• gnomAD v3: 13-32370998-G-A
• gnomAD v4: 13-32370998-G-A
• MyVariant Identifiers: chr13:g.32945135G>A (hg19) ; chr13:g.32370998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370998G>A , CM000675.2:g.32370998G>A	GRCh38
NC_000013.10:g.32945135G>A , CM000675.1:g.32945135G>A	GRCh37
NC_000013.9:g.31843135G>A	NCBI36
NG_012772.3:g.60519G>A , LRG_293:g.60519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8530G>A	ENSP00000434898.2:p.Glu2844Lys
ENST00000528762.2:c.8530G>A	ENSP00000433168.2:p.Glu2844Lys
ENST00000530893.7:c.8161G>A	ENSP00000499438.2:p.Glu2721Lys
ENST00000665585.2:c.8530G>A	ENSP00000499570.2:p.Glu2844Lys
ENST00000666593.2:c.8530G>A	ENSP00000499256.2:p.Glu2844Lys
ENST00000700202.2:c.8530G>A	ENSP00000514856.2:p.Glu2844Lys
ENST00000700202.1:c.997G>A	ENSP00000514856.1:p.Glu333Lys
ENST00000380152.8:c.8530G>A MANE Select	ENSP00000369497.3:p.Glu2844Lys
ENST00000544455.6:c.8530G>A	ENSP00000439902.1:p.Glu2844Lys
ENST00000614259.2:c.8538G>A	ENSP00000506251.1:n.8538G>A
ENST00000665585.1:c.1095G>A
ENST00000680887.1:c.8530G>A	ENSP00000505508.1:p.Glu2844Lys
ENST00000380152.7:c.8530G>A	ENSP00000369497.3:p.Glu2844Lys
ENST00000528762.1:c.28G>A	ENSP00000433168.1:p.Glu10Lys
ENST00000544455.5:c.8530G>A	ENSP00000439902.1:p.Glu2844Lys
NM_000059.3:c.8530G>A , LRG_293t1:c.8530G>A	NP_000050.2:p.Glu2844Lys
XM_011535203.1:c.8530G>A	XP_011533505.1:p.Glu2844Lys
XM_011535204.1:c.8434G>A	XP_011533506.1:p.Glu2812Lys
XM_011535205.1:c.8530G>A	XP_011533507.1:p.Glu2844Lys
NM_000059.4:c.8530G>A MANE Select	NP_000050.3:p.Glu2844Lys