Canonical Allele Identifier: CA387756330

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137619918
• MyVariant Identifiers: chr13:g.32953558A>T (hg19) ; chr13:g.32379421A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379421A>T , CM000675.2:g.32379421A>T	GRCh38
NC_000013.10:g.32953558A>T , CM000675.1:g.32953558A>T	GRCh37
NC_000013.9:g.31851558A>T	NCBI36
NG_012772.3:g.68942A>T , LRG_293:g.68942A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8859A>T	ENSP00000434898.2:p.Glu2953Asp
ENST00000528762.2:c.*226A>T	ENSP00000433168.2:n.*226A>T
ENST00000530893.7:c.8490A>T	ENSP00000499438.2:p.Glu2830Asp
ENST00000665585.2:c.*421A>T	ENSP00000499570.2:n.*421A>T
ENST00000666593.2:c.8859A>T	ENSP00000499256.2:p.Glu2953Asp
ENST00000700202.2:c.8859A>T	ENSP00000514856.2:p.Glu2953Asp
ENST00000700202.1:c.1326A>T	ENSP00000514856.1:p.Glu442Asp
ENST00000700203.1:n.986A>T
ENST00000380152.8:c.8859A>T MANE Select	ENSP00000369497.3:p.Glu2953Asp
ENST00000544455.6:c.8859A>T	ENSP00000439902.1:p.Glu2953Asp
ENST00000614259.2:c.8867A>T	ENSP00000506251.1:n.8867A>T
ENST00000665585.1:c.1737A>T
ENST00000680887.1:c.8859A>T	ENSP00000505508.1:p.Glu2953Asp
ENST00000380152.7:c.8859A>T	ENSP00000369497.3:p.Glu2953Asp
ENST00000528762.1:c.421A>T	ENSP00000433168.1:n.421A>T
ENST00000544455.5:c.8859A>T	ENSP00000439902.1:p.Glu2953Asp
NM_000059.3:c.8859A>T , LRG_293t1:c.8859A>T	NP_000050.2:p.Glu2953Asp
XM_011535203.1:c.8859A>T	XP_011533505.1:p.Glu2953Asp
XM_011535204.1:c.8763A>T	XP_011533506.1:p.Glu2921Asp
XM_011535205.1:c.8755-329A>T	XP_011533507.1:n.8755-329A>T
NM_000059.4:c.8859A>T MANE Select	NP_000050.3:p.Glu2953Asp