Canonical Allele Identifier: CA391381374
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141541T>A , CM000677.2:g.28141541T>A GRCh38
NC_000015.9:g.28386687T>A , CM000677.1:g.28386687T>A GRCh37
NC_000015.8:g.26060282T>A NCBI36
NG_016355.1:g.185609A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11906A>T MANE Select ENSP00000261609.8:p.Glu3969Val
ENST00000650509.1:c.3617A>T ENSP00000496936.1:p.Glu1206Val
ENST00000261609.11:c.11906A>T ENSP00000261609.7:p.Glu3969Val
NM_004667.5:c.11906A>T NP_004658.3:p.Glu3969Val
XM_005268276.3:c.11792A>T XP_005268333.1:p.Glu3931Val
XM_005268277.3:c.11792A>T XP_005268334.1:p.Glu3931Val
XM_006720726.2:c.11891A>T XP_006720789.1:p.Glu3964Val
XM_006720727.2:c.11648A>T XP_006720790.1:p.Glu3883Val
XM_011522131.1:c.11423A>T XP_011520433.1:p.Glu3808Val
XM_011522132.1:c.9422A>T XP_011520434.1:p.Glu3141Val
XM_011522133.1:c.8651A>T XP_011520435.1:p.Glu2884Val
XM_011522134.1:c.6023A>T XP_011520436.1:p.Glu2008Val
XM_005268276.5:c.11792A>T XP_005268333.1:p.Glu3931Val
XM_006720726.3:c.11891A>T XP_006720789.1:p.Glu3964Val
XM_006720727.3:c.11648A>T XP_006720790.1:p.Glu3883Val
XM_017022695.1:c.11792A>T XP_016878184.1:p.Glu3931Val
XM_017022696.1:c.11792A>T XP_016878185.1:p.Glu3931Val
XM_017022697.1:c.5072A>T XP_016878186.1:p.Glu1691Val
XM_017022698.1:c.5072A>T XP_016878187.1:p.Glu1691Val
NM_004667.6:c.11906A>T MANE Select NP_004658.3:p.Glu3969Val