Canonical Allele Identifier: CA2082836536

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363421T= , CM000675.2:g.32363421T=	GRCh38
NC_000013.10:g.32937558T= , CM000675.1:g.32937558T=	GRCh37
NC_000013.9:g.31835558T=	NCBI36
NG_012772.3:g.52942T= , LRG_293:g.52942T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.8219T= MANE Select	NP_000050.3:p.Leu2740=
ENST00000380152.8:c.8219T= MANE Select	ENSP00000369497.3:p.Leu2740=
NM_000059.3:c.8219T= , LRG_293t1:c.8219T=	NP_000050.2:p.Leu2740=
ENST00000380152.7:c.8219T=	ENSP00000369497.3:p.Leu2740=
ENST00000470094.2:c.8219T=	ENSP00000434898.2:p.Leu2740=
ENST00000528762.2:c.8219T=	ENSP00000433168.2:p.Leu2740=
ENST00000530893.7:c.7850T=	ENSP00000499438.2:p.Leu2617=
ENST00000544455.5:c.8219T=	ENSP00000439902.1:p.Leu2740=
ENST00000544455.6:c.8219T=	ENSP00000439902.1:p.Leu2740=
ENST00000614259.2:c.8227T=	ENSP00000506251.1:n.8227T=
ENST00000665585.1:c.784T=
ENST00000665585.2:c.8219T=	ENSP00000499570.2:p.Leu2740=
ENST00000666593.2:c.8219T=	ENSP00000499256.2:p.Leu2740=
ENST00000680887.1:c.8219T=	ENSP00000505508.1:p.Leu2740=
ENST00000700202.1:c.686T=	ENSP00000514856.1:p.Leu229=
ENST00000700202.2:c.8219T=	ENSP00000514856.2:p.Leu2740=
XM_011535203.1:c.8219T=	XP_011533505.1:p.Leu2740=
XM_011535204.1:c.8123T=	XP_011533506.1:p.Leu2708=
XM_011535205.1:c.8219T=	XP_011533507.1:p.Leu2740=