Canonical Allele Identifier: CA2082822088

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394707A= , CM000675.2:g.32394707A=	GRCh38
NC_000013.10:g.32968844A= , CM000675.1:g.32968844A=	GRCh37
NC_000013.9:g.31866844A=	NCBI36
NG_012772.3:g.84228A= , LRG_293:g.84228A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9275A=	ENSP00000434898.2:p.Tyr3092=
ENST00000528762.2:c.*642A=	ENSP00000433168.2:n.*642A=
ENST00000530893.7:c.8906A=	ENSP00000499438.2:p.Tyr2969=
ENST00000665585.2:c.*837A=	ENSP00000499570.2:n.*837A=
ENST00000666593.2:c.*120A=	ENSP00000499256.2:n.*120A=
ENST00000700202.2:c.9224A=	ENSP00000514856.2:p.Tyr3075=
ENST00000700202.1:c.1691A=	ENSP00000514856.1:p.Tyr564=
ENST00000700203.1:n.1402A=
ENST00000380152.8:c.9275A= MANE Select	ENSP00000369497.3:p.Tyr3092=
ENST00000544455.6:c.9275A=	ENSP00000439902.1:p.Tyr3092=
ENST00000614259.2:c.9283A=	ENSP00000506251.1:n.9283A=
ENST00000665585.1:c.2153A=
ENST00000666593.1:c.297A=	ENSP00000499256.1:n.297A=
ENST00000680887.1:c.9275A=	ENSP00000505508.1:p.Tyr3092=
ENST00000380152.7:c.9275A=	ENSP00000369497.3:p.Tyr3092=
ENST00000470094.1:c.232A=
ENST00000544455.5:c.9275A=	ENSP00000439902.1:p.Tyr3092=
NM_000059.3:c.9275A= , LRG_293t1:c.9275A=	NP_000050.2:p.Tyr3092=
XM_011535203.1:c.9275A=	XP_011533505.1:p.Tyr3092=
XM_011535204.1:c.9179A=	XP_011533506.1:p.Tyr3060=
NM_000059.4:c.9275A= MANE Select	NP_000050.3:p.Tyr3092=