Canonical Allele Identifier: CA025202

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52374
• ClinVar RCV Id: RCV000045272 ; RCV000113799 ; RCV000130821 ; RCV000212262 ; RCV003607219
• dbSNP Id: rs80358990
• gnomAD v2: 13-32931894-G-A
• gnomAD v3: 13-32357757-G-A
• gnomAD v4: 13-32357757-G-A
• COSMIC: COSM4047097 ; COSM4047098
• MyVariant Identifiers: chr13:g.32931894G>A (hg19) ; chr13:g.32357757G>A (hg38)
• PubMed: PMID:10923033 ; PMID:19043619

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357757G>A , CM000675.2:g.32357757G>A	GRCh38
NC_000013.10:g.32931894G>A , CM000675.1:g.32931894G>A	GRCh37
NC_000013.9:g.31829894G>A	NCBI36
NG_012772.3:g.47278G>A , LRG_293:g.47278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7633G>A	ENSP00000434898.2:p.Val2545Ile
ENST00000528762.2:c.7633G>A	ENSP00000433168.2:p.Val2545Ile
ENST00000530893.7:c.7264G>A	ENSP00000499438.2:p.Val2422Ile
ENST00000665585.2:c.7633G>A	ENSP00000499570.2:p.Val2545Ile
ENST00000666593.2:c.7633G>A	ENSP00000499256.2:p.Val2545Ile
ENST00000700202.2:c.7633G>A	ENSP00000514856.2:p.Val2545Ile
ENST00000700202.1:c.100G>A	ENSP00000514856.1:p.Val34Ile
ENST00000380152.8:c.7633G>A MANE Select	ENSP00000369497.3:p.Val2545Ile
ENST00000544455.6:c.7633G>A	ENSP00000439902.1:p.Val2545Ile
ENST00000614259.2:c.7633G>A	ENSP00000506251.1:p.Val2545Ile
ENST00000665585.1:c.198G>A
ENST00000680887.1:c.7633G>A	ENSP00000505508.1:p.Val2545Ile
ENST00000380152.7:c.7633G>A	ENSP00000369497.3:p.Val2545Ile
ENST00000544455.5:c.7633G>A	ENSP00000439902.1:p.Val2545Ile
ENST00000614259.1:n.7633G>A
NM_000059.3:c.7633G>A , LRG_293t1:c.7633G>A	NP_000050.2:p.Val2545Ile
XM_011535203.1:c.7633G>A	XP_011533505.1:p.Val2545Ile
XM_011535204.1:c.7537G>A	XP_011533506.1:p.Val2513Ile
XM_011535205.1:c.7633G>A	XP_011533507.1:p.Val2545Ile
NM_000059.4:c.7633G>A MANE Select	NP_000050.3:p.Val2545Ile