Canonical Allele Identifier: CA2082837336

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398608C= , CM000675.2:g.32398608C=	GRCh38
NC_000013.10:g.32972745C= , CM000675.1:g.32972745C=	GRCh37
NC_000013.9:g.31870745C=	NCBI36
NG_012772.3:g.88129C= , LRG_293:g.88129C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*618C=	ENSP00000434898.2:n.*618C=
ENST00000528762.2:c.*1462C=	ENSP00000433168.2:n.*1462C=
ENST00000530893.7:c.9726C=	ENSP00000499438.2:p.Val3242=
ENST00000665585.2:c.*1657C=	ENSP00000499570.2:n.*1657C=
ENST00000700202.2:c.10044C=	ENSP00000514856.2:p.Val3348=
ENST00000700202.1:c.2511C=	ENSP00000514856.1:p.Val837=
ENST00000700203.1:n.2222C=
ENST00000380152.8:c.10095C= MANE Select	ENSP00000369497.3:p.Val3365=
ENST00000544455.6:c.10095C=	ENSP00000439902.1:p.Val3365=
ENST00000614259.2:c.10103C=	ENSP00000506251.1:n.10103C=
ENST00000680887.1:c.10095C=	ENSP00000505508.1:p.Val3365=
ENST00000380152.7:c.10095C=	ENSP00000369497.3:p.Val3365=
ENST00000544455.5:c.10095C=	ENSP00000439902.1:p.Val3365=
NM_000059.3:c.10095C= , LRG_293t1:c.10095C=	NP_000050.2:p.Val3365=
XM_011535203.1:c.10095C=	XP_011533505.1:p.Val3365=
XM_011535204.1:c.9999C=	XP_011533506.1:p.Val3333=
NM_000059.4:c.10095C= MANE Select	NP_000050.3:p.Val3365=