Canonical Allele Identifier: CA387756325
Gene: BRCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379420A>G , CM000675.2:g.32379420A>G GRCh38
NC_000013.10:g.32953557A>G , CM000675.1:g.32953557A>G GRCh37
NC_000013.9:g.31851557A>G NCBI36
NG_012772.3:g.68941A>G , LRG_293:g.68941A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8858A>G ENSP00000434898.2:p.Glu2953Gly
ENST00000528762.2:c.*225A>G ENSP00000433168.2:n.*225A>G
ENST00000530893.7:c.8489A>G ENSP00000499438.2:p.Glu2830Gly
ENST00000665585.2:c.*420A>G ENSP00000499570.2:n.*420A>G
ENST00000666593.2:c.8858A>G ENSP00000499256.2:p.Glu2953Gly
ENST00000700202.2:c.8858A>G ENSP00000514856.2:p.Glu2953Gly
ENST00000700202.1:c.1325A>G ENSP00000514856.1:p.Glu442Gly
ENST00000700203.1:n.985A>G
ENST00000380152.8:c.8858A>G MANE Select ENSP00000369497.3:p.Glu2953Gly
ENST00000544455.6:c.8858A>G ENSP00000439902.1:p.Glu2953Gly
ENST00000614259.2:c.8866A>G ENSP00000506251.1:n.8866A>G
ENST00000665585.1:c.1736A>G
ENST00000680887.1:c.8858A>G ENSP00000505508.1:p.Glu2953Gly
ENST00000380152.7:c.8858A>G ENSP00000369497.3:p.Glu2953Gly
ENST00000528762.1:c.420A>G ENSP00000433168.1:n.420A>G
ENST00000544455.5:c.8858A>G ENSP00000439902.1:p.Glu2953Gly
NM_000059.3:c.8858A>G , LRG_293t1:c.8858A>G NP_000050.2:p.Glu2953Gly
XM_011535203.1:c.8858A>G XP_011533505.1:p.Glu2953Gly
XM_011535204.1:c.8762A>G XP_011533506.1:p.Glu2921Gly
XM_011535205.1:c.8755-330A>G XP_011533507.1:n.8755-330A>G
NM_000059.4:c.8858A>G MANE Select NP_000050.3:p.Glu2953Gly