Canonical Allele Identifier: CA2082822728

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394759T= , CM000675.2:g.32394759T=	GRCh38
NC_000013.10:g.32968896T= , CM000675.1:g.32968896T=	GRCh37
NC_000013.9:g.31866896T=	NCBI36
NG_012772.3:g.84280T= , LRG_293:g.84280T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9327T=	ENSP00000434898.2:p.Leu3109=
ENST00000528762.2:c.*694T=	ENSP00000433168.2:n.*694T=
ENST00000530893.7:c.8958T=	ENSP00000499438.2:p.Leu2986=
ENST00000665585.2:c.*889T=	ENSP00000499570.2:n.*889T=
ENST00000666593.2:c.*172T=	ENSP00000499256.2:n.*172T=
ENST00000700202.2:c.9276T=	ENSP00000514856.2:p.Leu3092=
ENST00000700202.1:c.1743T=	ENSP00000514856.1:p.Leu581=
ENST00000700203.1:n.1454T=
ENST00000380152.8:c.9327T= MANE Select	ENSP00000369497.3:p.Leu3109=
ENST00000544455.6:c.9327T=	ENSP00000439902.1:p.Leu3109=
ENST00000614259.2:c.9335T=	ENSP00000506251.1:n.9335T=
ENST00000665585.1:c.2205T=
ENST00000666593.1:c.349T=	ENSP00000499256.1:n.349T=
ENST00000680887.1:c.9327T=	ENSP00000505508.1:p.Leu3109=
ENST00000380152.7:c.9327T=	ENSP00000369497.3:p.Leu3109=
ENST00000470094.1:c.284T=
ENST00000544455.5:c.9327T=	ENSP00000439902.1:p.Leu3109=
NM_000059.3:c.9327T= , LRG_293t1:c.9327T=	NP_000050.2:p.Leu3109=
XM_011535203.1:c.9327T=	XP_011533505.1:p.Leu3109=
XM_011535204.1:c.9231T=	XP_011533506.1:p.Leu3077=
NM_000059.4:c.9327T= MANE Select	NP_000050.3:p.Leu3109=