Canonical Allele Identifier: CA2082822404

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394733C= , CM000675.2:g.32394733C=	GRCh38
NC_000013.10:g.32968870C= , CM000675.1:g.32968870C=	GRCh37
NC_000013.9:g.31866870C=	NCBI36
NG_012772.3:g.84254C= , LRG_293:g.84254C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9301C=	ENSP00000434898.2:p.Leu3101=
ENST00000528762.2:c.*668C=	ENSP00000433168.2:n.*668C=
ENST00000530893.7:c.8932C=	ENSP00000499438.2:p.Leu2978=
ENST00000665585.2:c.*863C=	ENSP00000499570.2:n.*863C=
ENST00000666593.2:c.*146C=	ENSP00000499256.2:n.*146C=
ENST00000700202.2:c.9250C=	ENSP00000514856.2:p.Leu3084=
ENST00000700202.1:c.1717C=	ENSP00000514856.1:p.Leu573=
ENST00000700203.1:n.1428C=
ENST00000380152.8:c.9301C= MANE Select	ENSP00000369497.3:p.Leu3101=
ENST00000544455.6:c.9301C=	ENSP00000439902.1:p.Leu3101=
ENST00000614259.2:c.9309C=	ENSP00000506251.1:n.9309C=
ENST00000665585.1:c.2179C=
ENST00000666593.1:c.323C=	ENSP00000499256.1:n.323C=
ENST00000680887.1:c.9301C=	ENSP00000505508.1:p.Leu3101=
ENST00000380152.7:c.9301C=	ENSP00000369497.3:p.Leu3101=
ENST00000470094.1:c.258C=
ENST00000544455.5:c.9301C=	ENSP00000439902.1:p.Leu3101=
NM_000059.3:c.9301C= , LRG_293t1:c.9301C=	NP_000050.2:p.Leu3101=
XM_011535203.1:c.9301C=	XP_011533505.1:p.Leu3101=
XM_011535204.1:c.9205C=	XP_011533506.1:p.Leu3069=
NM_000059.4:c.9301C= MANE Select	NP_000050.3:p.Leu3101=