Canonical Allele Identifier: CA2082821847

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394693T= , CM000675.2:g.32394693T=	GRCh38
NC_000013.10:g.32968830T= , CM000675.1:g.32968830T=	GRCh37
NC_000013.9:g.31866830T=	NCBI36
NG_012772.3:g.84214T= , LRG_293:g.84214T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9261T=	ENSP00000434898.2:p.Leu3087=
ENST00000528762.2:c.*628T=	ENSP00000433168.2:n.*628T=
ENST00000530893.7:c.8892T=	ENSP00000499438.2:p.Leu2964=
ENST00000665585.2:c.*823T=	ENSP00000499570.2:n.*823T=
ENST00000666593.2:c.*106T=	ENSP00000499256.2:n.*106T=
ENST00000700202.2:c.9210T=	ENSP00000514856.2:p.Leu3070=
ENST00000700202.1:c.1677T=	ENSP00000514856.1:p.Leu559=
ENST00000700203.1:n.1388T=
ENST00000380152.8:c.9261T= MANE Select	ENSP00000369497.3:p.Leu3087=
ENST00000544455.6:c.9261T=	ENSP00000439902.1:p.Leu3087=
ENST00000614259.2:c.9269T=	ENSP00000506251.1:n.9269T=
ENST00000665585.1:c.2139T=
ENST00000666593.1:c.283T=	ENSP00000499256.1:n.283T=
ENST00000680887.1:c.9261T=	ENSP00000505508.1:p.Leu3087=
ENST00000380152.7:c.9261T=	ENSP00000369497.3:p.Leu3087=
ENST00000470094.1:c.218T=
ENST00000544455.5:c.9261T=	ENSP00000439902.1:p.Leu3087=
NM_000059.3:c.9261T= , LRG_293t1:c.9261T=	NP_000050.2:p.Leu3087=
XM_011535203.1:c.9261T=	XP_011533505.1:p.Leu3087=
XM_011535204.1:c.9165T=	XP_011533506.1:p.Leu3055=
NM_000059.4:c.9261T= MANE Select	NP_000050.3:p.Leu3087=