Canonical Allele Identifier: CA2082841014

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380118T= , CM000675.2:g.32380118T=	GRCh38
NC_000013.10:g.32954255T= , CM000675.1:g.32954255T=	GRCh37
NC_000013.9:g.31852255T=	NCBI36
NG_012772.3:g.69639T= , LRG_293:g.69639T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9229T=	ENSP00000434898.2:p.Phe3077=
ENST00000528762.2:c.*596T=	ENSP00000433168.2:n.*596T=
ENST00000530893.7:c.8860T=	ENSP00000499438.2:p.Phe2954=
ENST00000665585.2:c.*791T=	ENSP00000499570.2:n.*791T=
ENST00000666593.2:c.9229T=	ENSP00000499256.2:p.Phe3077=
ENST00000700202.2:c.9178T=	ENSP00000514856.2:p.Phe3060=
ENST00000700202.1:c.1645T=	ENSP00000514856.1:p.Phe549=
ENST00000700203.1:n.1356T=
ENST00000380152.8:c.9229T= MANE Select	ENSP00000369497.3:p.Phe3077=
ENST00000544455.6:c.9229T=	ENSP00000439902.1:p.Phe3077=
ENST00000614259.2:c.9237T=	ENSP00000506251.1:n.9237T=
ENST00000665585.1:c.2107T=
ENST00000666593.1:c.112T=	ENSP00000499256.1:p.Phe38=
ENST00000680887.1:c.9229T=	ENSP00000505508.1:p.Phe3077=
ENST00000380152.7:c.9229T=	ENSP00000369497.3:p.Phe3077=
ENST00000470094.1:c.186T=
ENST00000544455.5:c.9229T=	ENSP00000439902.1:p.Phe3077=
NM_000059.3:c.9229T= , LRG_293t1:c.9229T=	NP_000050.2:p.Phe3077=
XM_011535203.1:c.9229T=	XP_011533505.1:p.Phe3077=
XM_011535204.1:c.9133T=	XP_011533506.1:p.Phe3045=
NM_000059.4:c.9229T= MANE Select	NP_000050.3:p.Phe3077=