Canonical Allele Identifier: CA2082836198
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379455G= , CM000675.2:g.32379455G= GRCh38
NC_000013.10:g.32953592G= , CM000675.1:g.32953592G= GRCh37
NC_000013.9:g.31851592G= NCBI36
NG_012772.3:g.68976G= , LRG_293:g.68976G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8893G= ENSP00000434898.2:p.Asp2965=
ENST00000528762.2:c.*260G= ENSP00000433168.2:n.*260G=
ENST00000530893.7:c.8524G= ENSP00000499438.2:p.Asp2842=
ENST00000665585.2:c.*455G= ENSP00000499570.2:n.*455G=
ENST00000666593.2:c.8893G= ENSP00000499256.2:p.Asp2965=
ENST00000700202.2:c.8893G= ENSP00000514856.2:p.Asp2965=
ENST00000700202.1:c.1360G= ENSP00000514856.1:p.Asp454=
ENST00000700203.1:n.1020G=
ENST00000380152.8:c.8893G= MANE Select ENSP00000369497.3:p.Asp2965=
ENST00000544455.6:c.8893G= ENSP00000439902.1:p.Asp2965=
ENST00000614259.2:c.8901G= ENSP00000506251.1:n.8901G=
ENST00000665585.1:c.1771G=
ENST00000680887.1:c.8893G= ENSP00000505508.1:p.Asp2965=
ENST00000380152.7:c.8893G= ENSP00000369497.3:p.Asp2965=
ENST00000528762.1:c.455G= ENSP00000433168.1:n.455G=
ENST00000544455.5:c.8893G= ENSP00000439902.1:p.Asp2965=
NM_000059.3:c.8893G= , LRG_293t1:c.8893G= NP_000050.2:p.Asp2965=
XM_011535203.1:c.8893G= XP_011533505.1:p.Asp2965=
XM_011535204.1:c.8797G= XP_011533506.1:p.Asp2933=
XM_011535205.1:c.8755-295G= XP_011533507.1:n.8755-295G=
NM_000059.4:c.8893G= MANE Select NP_000050.3:p.Asp2965=