Canonical Allele Identifier: CA2082815282
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370958G= , CM000675.2:g.32370958G= GRCh38
NC_000013.10:g.32945095G= , CM000675.1:g.32945095G= GRCh37
NC_000013.9:g.31843095G= NCBI36
NG_012772.3:g.60479G= , LRG_293:g.60479G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8490G= ENSP00000434898.2:p.Trp2830=
ENST00000528762.2:c.8490G= ENSP00000433168.2:p.Trp2830=
ENST00000530893.7:c.8121G= ENSP00000499438.2:p.Trp2707=
ENST00000665585.2:c.8490G= ENSP00000499570.2:p.Trp2830=
ENST00000666593.2:c.8490G= ENSP00000499256.2:p.Trp2830=
ENST00000700202.2:c.8490G= ENSP00000514856.2:p.Trp2830=
ENST00000700202.1:c.957G= ENSP00000514856.1:p.Trp319=
ENST00000380152.8:c.8490G= MANE Select ENSP00000369497.3:p.Trp2830=
ENST00000544455.6:c.8490G= ENSP00000439902.1:p.Trp2830=
ENST00000614259.2:c.8498G= ENSP00000506251.1:n.8498G=
ENST00000665585.1:c.1055G=
ENST00000680887.1:c.8490G= ENSP00000505508.1:p.Trp2830=
ENST00000380152.7:c.8490G= ENSP00000369497.3:p.Trp2830=
ENST00000544455.5:c.8490G= ENSP00000439902.1:p.Trp2830=
NM_000059.3:c.8490G= , LRG_293t1:c.8490G= NP_000050.2:p.Trp2830=
XM_011535203.1:c.8490G= XP_011533505.1:p.Trp2830=
XM_011535204.1:c.8394G= XP_011533506.1:p.Trp2798=
XM_011535205.1:c.8490G= XP_011533507.1:p.Trp2830=
NM_000059.4:c.8490G= MANE Select NP_000050.3:p.Trp2830=