Canonical Allele Identifier: CA2082841061

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380123C= , CM000675.2:g.32380123C=	GRCh38
NC_000013.10:g.32954260C= , CM000675.1:g.32954260C=	GRCh37
NC_000013.9:g.31852260C=	NCBI36
NG_012772.3:g.69644C= , LRG_293:g.69644C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9234C=	ENSP00000434898.2:p.Val3078=
ENST00000528762.2:c.*601C=	ENSP00000433168.2:n.*601C=
ENST00000530893.7:c.8865C=	ENSP00000499438.2:p.Val2955=
ENST00000665585.2:c.*796C=	ENSP00000499570.2:n.*796C=
ENST00000666593.2:c.9234C=	ENSP00000499256.2:p.Val3078=
ENST00000700202.2:c.9183C=	ENSP00000514856.2:p.Val3061=
ENST00000700202.1:c.1650C=	ENSP00000514856.1:p.Val550=
ENST00000700203.1:n.1361C=
ENST00000380152.8:c.9234C= MANE Select	ENSP00000369497.3:p.Val3078=
ENST00000544455.6:c.9234C=	ENSP00000439902.1:p.Val3078=
ENST00000614259.2:c.9242C=	ENSP00000506251.1:n.9242C=
ENST00000665585.1:c.2112C=
ENST00000666593.1:c.117C=	ENSP00000499256.1:p.Val39=
ENST00000680887.1:c.9234C=	ENSP00000505508.1:p.Val3078=
ENST00000380152.7:c.9234C=	ENSP00000369497.3:p.Val3078=
ENST00000470094.1:c.191C=
ENST00000544455.5:c.9234C=	ENSP00000439902.1:p.Val3078=
NM_000059.3:c.9234C= , LRG_293t1:c.9234C=	NP_000050.2:p.Val3078=
XM_011535203.1:c.9234C=	XP_011533505.1:p.Val3078=
XM_011535204.1:c.9138C=	XP_011533506.1:p.Val3046=
NM_000059.4:c.9234C= MANE Select	NP_000050.3:p.Val3078=