Canonical Allele Identifier: CA2082836161

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398460A= , CM000675.2:g.32398460A=	GRCh38
NC_000013.10:g.32972597A= , CM000675.1:g.32972597A=	GRCh37
NC_000013.9:g.31870597A=	NCBI36
NG_012772.3:g.87981A= , LRG_293:g.87981A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*470A=	ENSP00000434898.2:n.*470A=
ENST00000528762.2:c.*1314A=	ENSP00000433168.2:n.*1314A=
ENST00000530893.7:c.9578A=	ENSP00000499438.2:p.Glu3193=
ENST00000665585.2:c.*1509A=	ENSP00000499570.2:n.*1509A=
ENST00000700202.2:c.9896A=	ENSP00000514856.2:p.Glu3299=
ENST00000700202.1:c.2363A=	ENSP00000514856.1:p.Glu788=
ENST00000700203.1:n.2074A=
ENST00000380152.8:c.9947A= MANE Select	ENSP00000369497.3:p.Glu3316=
ENST00000544455.6:c.9947A=	ENSP00000439902.1:p.Glu3316=
ENST00000614259.2:c.9955A=	ENSP00000506251.1:n.9955A=
ENST00000680887.1:c.9947A=	ENSP00000505508.1:p.Glu3316=
ENST00000380152.7:c.9947A=	ENSP00000369497.3:p.Glu3316=
ENST00000544455.5:c.9947A=	ENSP00000439902.1:p.Glu3316=
NM_000059.3:c.9947A= , LRG_293t1:c.9947A=	NP_000050.2:p.Glu3316=
XM_011535203.1:c.9947A=	XP_011533505.1:p.Glu3316=
XM_011535204.1:c.9851A=	XP_011533506.1:p.Glu3284=
NM_000059.4:c.9947A= MANE Select	NP_000050.3:p.Glu3316=