Canonical Allele Identifier: CA2082836170

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398462C= , CM000675.2:g.32398462C=	GRCh38
NC_000013.10:g.32972599C= , CM000675.1:g.32972599C=	GRCh37
NC_000013.9:g.31870599C=	NCBI36
NG_012772.3:g.87983C= , LRG_293:g.87983C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*472C=	ENSP00000434898.2:n.*472C=
ENST00000528762.2:c.*1316C=	ENSP00000433168.2:n.*1316C=
ENST00000530893.7:c.9580C=	ENSP00000499438.2:p.Leu3194=
ENST00000665585.2:c.*1511C=	ENSP00000499570.2:n.*1511C=
ENST00000700202.2:c.9898C=	ENSP00000514856.2:p.Leu3300=
ENST00000700202.1:c.2365C=	ENSP00000514856.1:p.Leu789=
ENST00000700203.1:n.2076C=
ENST00000380152.8:c.9949C= MANE Select	ENSP00000369497.3:p.Leu3317=
ENST00000544455.6:c.9949C=	ENSP00000439902.1:p.Leu3317=
ENST00000614259.2:c.9957C=	ENSP00000506251.1:n.9957C=
ENST00000680887.1:c.9949C=	ENSP00000505508.1:p.Leu3317=
ENST00000380152.7:c.9949C=	ENSP00000369497.3:p.Leu3317=
ENST00000544455.5:c.9949C=	ENSP00000439902.1:p.Leu3317=
NM_000059.3:c.9949C= , LRG_293t1:c.9949C=	NP_000050.2:p.Leu3317=
XM_011535203.1:c.9949C=	XP_011533505.1:p.Leu3317=
XM_011535204.1:c.9853C=	XP_011533506.1:p.Leu3285=
NM_000059.4:c.9949C= MANE Select	NP_000050.3:p.Leu3317=