Canonical Allele Identifier: CA2082759470
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330989C= , CM000675.2:g.32330989C= GRCh38
NC_000013.10:g.32905126C= , CM000675.1:g.32905126C= GRCh37
NC_000013.9:g.31803126C= NCBI36
NG_012772.3:g.20510C= , LRG_293:g.20510C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.752C= ENSP00000434898.2:p.Thr251=
ENST00000528762.2:c.752C= ENSP00000433168.2:p.Thr251=
ENST00000530893.7:c.383C= ENSP00000499438.2:p.Thr128=
ENST00000665585.2:c.752C= ENSP00000499570.2:p.Thr251=
ENST00000666593.2:c.752C= ENSP00000499256.2:p.Thr251=
ENST00000700202.2:c.752C= ENSP00000514856.2:p.Thr251=
ENST00000700201.1:c.*531C= ENSP00000514855.1:n.*531C=
ENST00000380152.8:c.752C= MANE Select ENSP00000369497.3:p.Thr251=
ENST00000544455.6:c.752C= ENSP00000439902.1:p.Thr251=
ENST00000614259.2:c.752C= ENSP00000506251.1:p.Thr251=
ENST00000680887.1:c.752C= ENSP00000505508.1:p.Thr251=
ENST00000380152.7:c.752C= ENSP00000369497.3:p.Thr251=
ENST00000530893.6:n.950C=
ENST00000544455.5:c.752C= ENSP00000439902.1:p.Thr251=
ENST00000614259.1:n.752C=
NM_000059.3:c.752C= , LRG_293t1:c.752C= NP_000050.2:p.Thr251=
XM_011535203.1:c.752C= XP_011533505.1:p.Thr251=
XM_011535204.1:c.752C= XP_011533506.1:p.Thr251=
XM_011535205.1:c.752C= XP_011533507.1:p.Thr251=
NM_000059.4:c.752C= MANE Select NP_000050.3:p.Thr251=