Canonical Allele Identifier: CA2082837781
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379781T= , CM000675.2:g.32379781T= GRCh38
NC_000013.10:g.32953918T= , CM000675.1:g.32953918T= GRCh37
NC_000013.9:g.31851918T= NCBI36
NG_012772.3:g.69302T= , LRG_293:g.69302T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8985T= ENSP00000434898.2:p.Asp2995=
ENST00000528762.2:c.*352T= ENSP00000433168.2:n.*352T=
ENST00000530893.7:c.8616T= ENSP00000499438.2:p.Asp2872=
ENST00000665585.2:c.*547T= ENSP00000499570.2:n.*547T=
ENST00000666593.2:c.8985T= ENSP00000499256.2:p.Asp2995=
ENST00000700202.2:c.8954-20T= ENSP00000514856.2:n.8954-20T=
ENST00000700202.1:c.1421-20T= ENSP00000514856.1:n.1421-20T=
ENST00000700203.1:n.1112T=
ENST00000380152.8:c.8985T= MANE Select ENSP00000369497.3:p.Asp2995=
ENST00000544455.6:c.8985T= ENSP00000439902.1:p.Asp2995=
ENST00000614259.2:c.8993T= ENSP00000506251.1:n.8993T=
ENST00000665585.1:c.1863T=
ENST00000680887.1:c.8985T= ENSP00000505508.1:p.Asp2995=
ENST00000380152.7:c.8985T= ENSP00000369497.3:p.Asp2995=
ENST00000544455.5:c.8985T= ENSP00000439902.1:p.Asp2995=
NM_000059.3:c.8985T= , LRG_293t1:c.8985T= NP_000050.2:p.Asp2995=
XM_011535203.1:c.8985T= XP_011533505.1:p.Asp2995=
XM_011535204.1:c.8889T= XP_011533506.1:p.Asp2963=
XM_011535205.1:c.*23T= XP_011533507.1:n.*23T=
NM_000059.4:c.8985T= MANE Select NP_000050.3:p.Asp2995=