Canonical Allele Identifier: CA2082841005
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380117A= , CM000675.2:g.32380117A= GRCh38
NC_000013.10:g.32954254A= , CM000675.1:g.32954254A= GRCh37
NC_000013.9:g.31852254A= NCBI36
NG_012772.3:g.69638A= , LRG_293:g.69638A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9228A= ENSP00000434898.2:p.Gly3076=
ENST00000528762.2:c.*595A= ENSP00000433168.2:n.*595A=
ENST00000530893.7:c.8859A= ENSP00000499438.2:p.Gly2953=
ENST00000665585.2:c.*790A= ENSP00000499570.2:n.*790A=
ENST00000666593.2:c.9228A= ENSP00000499256.2:p.Gly3076=
ENST00000700202.2:c.9177A= ENSP00000514856.2:p.Gly3059=
ENST00000700202.1:c.1644A= ENSP00000514856.1:p.Gly548=
ENST00000700203.1:n.1355A=
ENST00000380152.8:c.9228A= MANE Select ENSP00000369497.3:p.Gly3076=
ENST00000544455.6:c.9228A= ENSP00000439902.1:p.Gly3076=
ENST00000614259.2:c.9236A= ENSP00000506251.1:n.9236A=
ENST00000665585.1:c.2106A=
ENST00000666593.1:c.111A= ENSP00000499256.1:p.Gly37=
ENST00000680887.1:c.9228A= ENSP00000505508.1:p.Gly3076=
ENST00000380152.7:c.9228A= ENSP00000369497.3:p.Gly3076=
ENST00000470094.1:c.185A=
ENST00000544455.5:c.9228A= ENSP00000439902.1:p.Gly3076=
NM_000059.3:c.9228A= , LRG_293t1:c.9228A= NP_000050.2:p.Gly3076=
XM_011535203.1:c.9228A= XP_011533505.1:p.Gly3076=
XM_011535204.1:c.9132A= XP_011533506.1:p.Gly3044=
NM_000059.4:c.9228A= MANE Select NP_000050.3:p.Gly3076=