Canonical Allele Identifier: CA2082836110
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379440C= , CM000675.2:g.32379440C= GRCh38
NC_000013.10:g.32953577C= , CM000675.1:g.32953577C= GRCh37
NC_000013.9:g.31851577C= NCBI36
NG_012772.3:g.68961C= , LRG_293:g.68961C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8878C= ENSP00000434898.2:p.Gln2960=
ENST00000528762.2:c.*245C= ENSP00000433168.2:n.*245C=
ENST00000530893.7:c.8509C= ENSP00000499438.2:p.Gln2837=
ENST00000665585.2:c.*440C= ENSP00000499570.2:n.*440C=
ENST00000666593.2:c.8878C= ENSP00000499256.2:p.Gln2960=
ENST00000700202.2:c.8878C= ENSP00000514856.2:p.Gln2960=
ENST00000700202.1:c.1345C= ENSP00000514856.1:p.Gln449=
ENST00000700203.1:n.1005C=
ENST00000380152.8:c.8878C= MANE Select ENSP00000369497.3:p.Gln2960=
ENST00000544455.6:c.8878C= ENSP00000439902.1:p.Gln2960=
ENST00000614259.2:c.8886C= ENSP00000506251.1:n.8886C=
ENST00000665585.1:c.1756C=
ENST00000680887.1:c.8878C= ENSP00000505508.1:p.Gln2960=
ENST00000380152.7:c.8878C= ENSP00000369497.3:p.Gln2960=
ENST00000528762.1:c.440C= ENSP00000433168.1:n.440C=
ENST00000544455.5:c.8878C= ENSP00000439902.1:p.Gln2960=
NM_000059.3:c.8878C= , LRG_293t1:c.8878C= NP_000050.2:p.Gln2960=
XM_011535203.1:c.8878C= XP_011533505.1:p.Gln2960=
XM_011535204.1:c.8782C= XP_011533506.1:p.Gln2928=
XM_011535205.1:c.8755-310C= XP_011533507.1:n.8755-310C=
NM_000059.4:c.8878C= MANE Select NP_000050.3:p.Gln2960=