Canonical Allele Identifier: CA2082830463

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396968G= , CM000675.2:g.32396968G=	GRCh38
NC_000013.10:g.32971105G= , CM000675.1:g.32971105G=	GRCh37
NC_000013.9:g.31869105G=	NCBI36
NG_012772.3:g.86489G= , LRG_293:g.86489G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9572G= MANE Select	NP_000050.3:p.Trp3191=
ENST00000380152.8:c.9572G= MANE Select	ENSP00000369497.3:p.Trp3191=
NM_000059.3:c.9572G= , LRG_293t1:c.9572G=	NP_000050.2:p.Trp3191=
ENST00000380152.7:c.9572G=	ENSP00000369497.3:p.Trp3191=
ENST00000470094.1:c.655G=
ENST00000470094.2:c.*95G=	ENSP00000434898.2:n.*95G=
ENST00000528762.2:c.*939G=	ENSP00000433168.2:n.*939G=
ENST00000530893.7:c.9203G=	ENSP00000499438.2:p.Trp3068=
ENST00000533776.1:n.160G=
ENST00000544455.5:c.9572G=	ENSP00000439902.1:p.Trp3191=
ENST00000544455.6:c.9572G=	ENSP00000439902.1:p.Trp3191=
ENST00000614259.2:c.9580G=	ENSP00000506251.1:n.9580G=
ENST00000665585.1:c.2450G=
ENST00000665585.2:c.*1134G=	ENSP00000499570.2:n.*1134G=
ENST00000680887.1:c.9572G=	ENSP00000505508.1:p.Trp3191=
ENST00000700202.1:c.1988G=	ENSP00000514856.1:p.Trp663=
ENST00000700202.2:c.9521G=	ENSP00000514856.2:p.Trp3174=
ENST00000700203.1:n.1699G=
XM_011535203.1:c.9572G=	XP_011533505.1:p.Trp3191=
XM_011535204.1:c.9476G=	XP_011533506.1:p.Trp3159=