Canonical Allele Identifier: CA025298

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52422
• ClinVar RCV Id: RCV000045325 ; RCV000113829 ; RCV002408543
• dbSNP Id: rs80359008
• MyVariant Identifiers: chr13:g.32936673A>C (hg19) ; chr13:g.32362536A>C (hg38)
• PubMed: PMID:10923033 ; PMID:19043619

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362536A>C , CM000675.2:g.32362536A>C	GRCh38
NC_000013.10:g.32936673A>C , CM000675.1:g.32936673A>C	GRCh37
NC_000013.9:g.31834673A>C	NCBI36
NG_012772.3:g.52057A>C , LRG_293:g.52057A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7819A>C	ENSP00000434898.2:p.Thr2607Pro
ENST00000528762.2:c.7819A>C	ENSP00000433168.2:p.Thr2607Pro
ENST00000530893.7:c.7450A>C	ENSP00000499438.2:p.Thr2484Pro
ENST00000665585.2:c.7819A>C	ENSP00000499570.2:p.Thr2607Pro
ENST00000666593.2:c.7819A>C	ENSP00000499256.2:p.Thr2607Pro
ENST00000700202.2:c.7819A>C	ENSP00000514856.2:p.Thr2607Pro
ENST00000700202.1:c.286A>C	ENSP00000514856.1:p.Thr96Pro
ENST00000380152.8:c.7819A>C MANE Select	ENSP00000369497.3:p.Thr2607Pro
ENST00000544455.6:c.7819A>C	ENSP00000439902.1:p.Thr2607Pro
ENST00000614259.2:c.7827A>C	ENSP00000506251.1:p.Thr2609=
ENST00000665585.1:c.384A>C
ENST00000680887.1:c.7819A>C	ENSP00000505508.1:p.Thr2607Pro
ENST00000380152.7:c.7819A>C	ENSP00000369497.3:p.Thr2607Pro
ENST00000544455.5:c.7819A>C	ENSP00000439902.1:p.Thr2607Pro
ENST00000614259.1:n.7827A>C
NM_000059.3:c.7819A>C , LRG_293t1:c.7819A>C	NP_000050.2:p.Thr2607Pro
XM_011535203.1:c.7819A>C	XP_011533505.1:p.Thr2607Pro
XM_011535204.1:c.7723A>C	XP_011533506.1:p.Thr2575Pro
XM_011535205.1:c.7819A>C	XP_011533507.1:p.Thr2607Pro
NM_000059.4:c.7819A>C MANE Select	NP_000050.3:p.Thr2607Pro