Canonical Allele Identifier: CA025793

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126188
• ClinVar RCV Id: RCV000113989 ; RCV000482964 ; RCV000821493 ; RCV000218173
• dbSNP Id: rs483353124
• gnomAD v4: 13-32376759-G-A
• MyVariant Identifiers: chr13:g.32950896G>A (hg19) ; chr13:g.32376759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376759G>A , CM000675.2:g.32376759G>A	GRCh38
NC_000013.10:g.32950896G>A , CM000675.1:g.32950896G>A	GRCh37
NC_000013.9:g.31848896G>A	NCBI36
NG_012772.3:g.66280G>A , LRG_293:g.66280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8722G>A	ENSP00000434898.2:p.Val2908Met
ENST00000528762.2:c.*89G>A	ENSP00000433168.2:n.*89G>A
ENST00000530893.7:c.8353G>A	ENSP00000499438.2:p.Val2785Met
ENST00000665585.2:c.*284G>A	ENSP00000499570.2:n.*284G>A
ENST00000666593.2:c.8722G>A	ENSP00000499256.2:p.Val2908Met
ENST00000700202.2:c.8722G>A	ENSP00000514856.2:p.Val2908Met
ENST00000700202.1:c.1189G>A	ENSP00000514856.1:p.Val397Met
ENST00000700203.1:n.849G>A
ENST00000380152.8:c.8722G>A MANE Select	ENSP00000369497.3:p.Val2908Met
ENST00000544455.6:c.8722G>A	ENSP00000439902.1:p.Val2908Met
ENST00000614259.2:c.8730G>A	ENSP00000506251.1:n.8730G>A
ENST00000665585.1:c.1600G>A
ENST00000680887.1:c.8722G>A	ENSP00000505508.1:p.Val2908Met
ENST00000380152.7:c.8722G>A	ENSP00000369497.3:p.Val2908Met
ENST00000528762.1:c.284G>A	ENSP00000433168.1:n.284G>A
ENST00000544455.5:c.8722G>A	ENSP00000439902.1:p.Val2908Met
NM_000059.3:c.8722G>A , LRG_293t1:c.8722G>A	NP_000050.2:p.Val2908Met
XM_011535203.1:c.8722G>A	XP_011533505.1:p.Val2908Met
XM_011535204.1:c.8626G>A	XP_011533506.1:p.Val2876Met
XM_011535205.1:c.8722G>A	XP_011533507.1:p.Val2908Met
NM_000059.4:c.8722G>A MANE Select	NP_000050.3:p.Val2908Met