Canonical Allele Identifier: CA391381035
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141473C>A , CM000677.2:g.28141473C>A GRCh38
NC_000015.9:g.28386619C>A , CM000677.1:g.28386619C>A GRCh37
NC_000015.8:g.26060214C>A NCBI36
NG_016355.1:g.185677G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11974G>T MANE Select ENSP00000261609.8:p.Gly3992Ter
ENST00000650509.1:c.3685G>T ENSP00000496936.1:p.Gly1229Ter
ENST00000261609.11:c.11974G>T ENSP00000261609.7:p.Gly3992Ter
NM_004667.5:c.11974G>T NP_004658.3:p.Gly3992Ter
XM_005268276.3:c.11860G>T XP_005268333.1:p.Gly3954Ter
XM_005268277.3:c.11860G>T XP_005268334.1:p.Gly3954Ter
XM_006720726.2:c.11959G>T XP_006720789.1:p.Gly3987Ter
XM_006720727.2:c.11716G>T XP_006720790.1:p.Gly3906Ter
XM_011522131.1:c.11491G>T XP_011520433.1:p.Gly3831Ter
XM_011522132.1:c.9490G>T XP_011520434.1:p.Gly3164Ter
XM_011522133.1:c.8719G>T XP_011520435.1:p.Gly2907Ter
XM_011522134.1:c.6091G>T XP_011520436.1:p.Gly2031Ter
XM_005268276.5:c.11860G>T XP_005268333.1:p.Gly3954Ter
XM_006720726.3:c.11959G>T XP_006720789.1:p.Gly3987Ter
XM_006720727.3:c.11716G>T XP_006720790.1:p.Gly3906Ter
XM_017022695.1:c.11860G>T XP_016878184.1:p.Gly3954Ter
XM_017022696.1:c.11860G>T XP_016878185.1:p.Gly3954Ter
XM_017022697.1:c.5140G>T XP_016878186.1:p.Gly1714Ter
XM_017022698.1:c.5140G>T XP_016878187.1:p.Gly1714Ter
NM_004667.6:c.11974G>T MANE Select NP_004658.3:p.Gly3992Ter