Canonical Allele Identifier: CA026083

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52803
• ClinVar RCV Id: RCV000114085 ; RCV001381498 ; RCV002371877
• dbSNP Id: rs80359197
• MyVariant Identifiers: chr13:g.32968845T>G (hg19) ; chr13:g.32394708T>G (hg38)
• PubMed: PMID:9840533 ; PMID:21702907

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394708T>G , CM000675.2:g.32394708T>G	GRCh38
NC_000013.10:g.32968845T>G , CM000675.1:g.32968845T>G	GRCh37
NC_000013.9:g.31866845T>G	NCBI36
NG_012772.3:g.84229T>G , LRG_293:g.84229T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9276T>G	ENSP00000434898.2:p.Tyr3092Ter
ENST00000528762.2:c.*643T>G	ENSP00000433168.2:n.*643T>G
ENST00000530893.7:c.8907T>G	ENSP00000499438.2:p.Tyr2969Ter
ENST00000665585.2:c.*838T>G	ENSP00000499570.2:n.*838T>G
ENST00000666593.2:c.*121T>G	ENSP00000499256.2:n.*121T>G
ENST00000700202.2:c.9225T>G	ENSP00000514856.2:p.Tyr3075Ter
ENST00000700202.1:c.1692T>G	ENSP00000514856.1:p.Tyr564Ter
ENST00000700203.1:n.1403T>G
ENST00000380152.8:c.9276T>G MANE Select	ENSP00000369497.3:p.Tyr3092Ter
ENST00000544455.6:c.9276T>G	ENSP00000439902.1:p.Tyr3092Ter
ENST00000614259.2:c.9284T>G	ENSP00000506251.1:n.9284T>G
ENST00000665585.1:c.2154T>G
ENST00000666593.1:c.298T>G	ENSP00000499256.1:n.298T>G
ENST00000680887.1:c.9276T>G	ENSP00000505508.1:p.Tyr3092Ter
ENST00000380152.7:c.9276T>G	ENSP00000369497.3:p.Tyr3092Ter
ENST00000470094.1:c.233T>G
ENST00000544455.5:c.9276T>G	ENSP00000439902.1:p.Tyr3092Ter
NM_000059.3:c.9276T>G , LRG_293t1:c.9276T>G	NP_000050.2:p.Tyr3092Ter
XM_011535203.1:c.9276T>G	XP_011533505.1:p.Tyr3092Ter
XM_011535204.1:c.9180T>G	XP_011533506.1:p.Tyr3060Ter
NM_000059.4:c.9276T>G MANE Select	NP_000050.3:p.Tyr3092Ter