Canonical Allele Identifier: CA2082836820

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398568T= , CM000675.2:g.32398568T=	GRCh38
NC_000013.10:g.32972705T= , CM000675.1:g.32972705T=	GRCh37
NC_000013.9:g.31870705T=	NCBI36
NG_012772.3:g.88089T= , LRG_293:g.88089T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*578T=	ENSP00000434898.2:n.*578T=
ENST00000528762.2:c.*1422T=	ENSP00000433168.2:n.*1422T=
ENST00000530893.7:c.9686T=	ENSP00000499438.2:p.Leu3229=
ENST00000665585.2:c.*1617T=	ENSP00000499570.2:n.*1617T=
ENST00000700202.2:c.10004T=	ENSP00000514856.2:p.Leu3335=
ENST00000700202.1:c.2471T=	ENSP00000514856.1:p.Leu824=
ENST00000700203.1:n.2182T=
ENST00000380152.8:c.10055T= MANE Select	ENSP00000369497.3:p.Leu3352=
ENST00000544455.6:c.10055T=	ENSP00000439902.1:p.Leu3352=
ENST00000614259.2:c.10063T=	ENSP00000506251.1:n.10063T=
ENST00000680887.1:c.10055T=	ENSP00000505508.1:p.Leu3352=
ENST00000380152.7:c.10055T=	ENSP00000369497.3:p.Leu3352=
ENST00000544455.5:c.10055T=	ENSP00000439902.1:p.Leu3352=
NM_000059.3:c.10055T= , LRG_293t1:c.10055T=	NP_000050.2:p.Leu3352=
XM_011535203.1:c.10055T=	XP_011533505.1:p.Leu3352=
XM_011535204.1:c.9959T=	XP_011533506.1:p.Leu3320=
NM_000059.4:c.10055T= MANE Select	NP_000050.3:p.Leu3352=