Canonical Allele Identifier: CA2082835954

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398431C= , CM000675.2:g.32398431C=	GRCh38
NC_000013.10:g.32972568C= , CM000675.1:g.32972568C=	GRCh37
NC_000013.9:g.31870568C=	NCBI36
NG_012772.3:g.87952C= , LRG_293:g.87952C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*441C=	ENSP00000434898.2:n.*441C=
ENST00000528762.2:c.*1285C=	ENSP00000433168.2:n.*1285C=
ENST00000530893.7:c.9549C=	ENSP00000499438.2:p.Thr3183=
ENST00000665585.2:c.*1480C=	ENSP00000499570.2:n.*1480C=
ENST00000700202.2:c.9867C=	ENSP00000514856.2:p.Thr3289=
ENST00000700202.1:c.2334C=	ENSP00000514856.1:p.Thr778=
ENST00000700203.1:n.2045C=
ENST00000380152.8:c.9918C= MANE Select	ENSP00000369497.3:p.Thr3306=
ENST00000544455.6:c.9918C=	ENSP00000439902.1:p.Thr3306=
ENST00000614259.2:c.9926C=	ENSP00000506251.1:n.9926C=
ENST00000680887.1:c.9918C=	ENSP00000505508.1:p.Thr3306=
ENST00000380152.7:c.9918C=	ENSP00000369497.3:p.Thr3306=
ENST00000533776.1:n.506C=
ENST00000544455.5:c.9918C=	ENSP00000439902.1:p.Thr3306=
NM_000059.3:c.9918C= , LRG_293t1:c.9918C=	NP_000050.2:p.Thr3306=
XM_011535203.1:c.9918C=	XP_011533505.1:p.Thr3306=
XM_011535204.1:c.9822C=	XP_011533506.1:p.Thr3274=
NM_000059.4:c.9918C= MANE Select	NP_000050.3:p.Thr3306=