Canonical Allele Identifier: CA3200672670

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398179T= , CM000675.2:g.32398179T=	GRCh38
NC_000013.10:g.32972316T= , CM000675.1:g.32972316T=	GRCh37
NC_000013.9:g.31870316T=	NCBI36
NG_012772.3:g.87700T= , LRG_293:g.87700T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9666T= MANE Select	NP_000050.3:p.Cys3222=
ENST00000380152.8:c.9666T= MANE Select	ENSP00000369497.3:p.Cys3222=
NM_000059.3:c.9666T= , LRG_293t1:c.9666T=	NP_000050.2:p.Cys3222=
ENST00000380152.7:c.9666T=	ENSP00000369497.3:p.Cys3222=
ENST00000470094.1:c.749T=
ENST00000470094.2:c.*189T=	ENSP00000434898.2:n.*189T=
ENST00000528762.2:c.*1033T=	ENSP00000433168.2:n.*1033T=
ENST00000530893.7:c.9297T=	ENSP00000499438.2:p.Cys3099=
ENST00000533776.1:n.254T=
ENST00000544455.5:c.9666T=	ENSP00000439902.1:p.Cys3222=
ENST00000544455.6:c.9666T=	ENSP00000439902.1:p.Cys3222=
ENST00000614259.2:c.9674T=	ENSP00000506251.1:n.9674T=
ENST00000665585.1:c.2544T=
ENST00000665585.2:c.*1228T=	ENSP00000499570.2:n.*1228T=
ENST00000680887.1:c.9666T=	ENSP00000505508.1:p.Cys3222=
ENST00000700202.1:c.2082T=	ENSP00000514856.1:p.Cys694=
ENST00000700202.2:c.9615T=	ENSP00000514856.2:p.Cys3205=
ENST00000700203.1:n.1793T=
XM_011535203.1:c.9666T=	XP_011533505.1:p.Cys3222=
XM_011535204.1:c.9570T=	XP_011533506.1:p.Cys3190=