Canonical Allele Identifier: CA026076

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52798
• ClinVar RCV Id: RCV000045772 ; RCV000083157 ; RCV000167774 ; RCV000165867 ; RCV000985621
• dbSNP Id: rs80359194
• gnomAD v3: 13-32394703-G-A
• gnomAD v4: 13-32394703-G-A
• MyVariant Identifiers: chr13:g.32968840G>A (hg19) ; chr13:g.32394703G>A (hg38)
• PubMed: PMID:21671020 ; PMID:22970155 ; PMID:23328489 ; PMID:24323938 ; PMID:24916970 ; PMID:25583476 ; PMID:26681674 ; PMID:27376475

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394703G>A , CM000675.2:g.32394703G>A	GRCh38
NC_000013.10:g.32968840G>A , CM000675.1:g.32968840G>A	GRCh37
NC_000013.9:g.31866840G>A	NCBI36
NG_012772.3:g.84224G>A , LRG_293:g.84224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9271G>A	ENSP00000434898.2:p.Val3091Ile
ENST00000528762.2:c.*638G>A	ENSP00000433168.2:n.*638G>A
ENST00000530893.7:c.8902G>A	ENSP00000499438.2:p.Val2968Ile
ENST00000665585.2:c.*833G>A	ENSP00000499570.2:n.*833G>A
ENST00000666593.2:c.*116G>A	ENSP00000499256.2:n.*116G>A
ENST00000700202.2:c.9220G>A	ENSP00000514856.2:p.Val3074Ile
ENST00000700202.1:c.1687G>A	ENSP00000514856.1:p.Val563Ile
ENST00000700203.1:n.1398G>A
ENST00000380152.8:c.9271G>A MANE Select	ENSP00000369497.3:p.Val3091Ile
ENST00000544455.6:c.9271G>A	ENSP00000439902.1:p.Val3091Ile
ENST00000614259.2:c.9279G>A	ENSP00000506251.1:n.9279G>A
ENST00000665585.1:c.2149G>A
ENST00000666593.1:c.293G>A	ENSP00000499256.1:n.293G>A
ENST00000680887.1:c.9271G>A	ENSP00000505508.1:p.Val3091Ile
ENST00000380152.7:c.9271G>A	ENSP00000369497.3:p.Val3091Ile
ENST00000470094.1:c.228G>A
ENST00000544455.5:c.9271G>A	ENSP00000439902.1:p.Val3091Ile
NM_000059.3:c.9271G>A , LRG_293t1:c.9271G>A	NP_000050.2:p.Val3091Ile
XM_011535203.1:c.9271G>A	XP_011533505.1:p.Val3091Ile
XM_011535204.1:c.9175G>A	XP_011533506.1:p.Val3059Ile
NM_000059.4:c.9271G>A MANE Select	NP_000050.3:p.Val3091Ile