Canonical Allele Identifier: CA391381440
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141559C>A , CM000677.2:g.28141559C>A GRCh38
NC_000015.9:g.28386705C>A , CM000677.1:g.28386705C>A GRCh37
NC_000015.8:g.26060300C>A NCBI36
NG_016355.1:g.185591G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11888G>T MANE Select ENSP00000261609.8:p.Gly3963Val
ENST00000650509.1:c.3599G>T ENSP00000496936.1:p.Gly1200Val
ENST00000261609.11:c.11888G>T ENSP00000261609.7:p.Gly3963Val
NM_004667.5:c.11888G>T NP_004658.3:p.Gly3963Val
XM_005268276.3:c.11774G>T XP_005268333.1:p.Gly3925Val
XM_005268277.3:c.11774G>T XP_005268334.1:p.Gly3925Val
XM_006720726.2:c.11873G>T XP_006720789.1:p.Gly3958Val
XM_006720727.2:c.11630G>T XP_006720790.1:p.Gly3877Val
XM_011522131.1:c.11405G>T XP_011520433.1:p.Gly3802Val
XM_011522132.1:c.9404G>T XP_011520434.1:p.Gly3135Val
XM_011522133.1:c.8633G>T XP_011520435.1:p.Gly2878Val
XM_011522134.1:c.6005G>T XP_011520436.1:p.Gly2002Val
XM_005268276.5:c.11774G>T XP_005268333.1:p.Gly3925Val
XM_006720726.3:c.11873G>T XP_006720789.1:p.Gly3958Val
XM_006720727.3:c.11630G>T XP_006720790.1:p.Gly3877Val
XM_017022695.1:c.11774G>T XP_016878184.1:p.Gly3925Val
XM_017022696.1:c.11774G>T XP_016878185.1:p.Gly3925Val
XM_017022697.1:c.5054G>T XP_016878186.1:p.Gly1685Val
XM_017022698.1:c.5054G>T XP_016878187.1:p.Gly1685Val
NM_004667.6:c.11888G>T MANE Select NP_004658.3:p.Gly3963Val