Canonical Allele Identifier: CA7440418
Gene: HERC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1703455
ClinVar RCV Id: RCV002280577
dbSNP Id: rs372578918

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141445G>A , CM000677.2:g.28141445G>A GRCh38
NC_000015.9:g.28386591G>A , CM000677.1:g.28386591G>A GRCh37
NC_000015.8:g.26060186G>A NCBI36
NG_016355.1:g.185705C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.12002C>T MANE Select ENSP00000261609.8:p.Thr4001Met
ENST00000650509.1:c.3713C>T ENSP00000496936.1:p.Thr1238Met
ENST00000261609.11:c.12002C>T ENSP00000261609.7:p.Thr4001Met
NM_004667.5:c.12002C>T NP_004658.3:p.Thr4001Met
XM_005268276.3:c.11888C>T XP_005268333.1:p.Thr3963Met
XM_005268277.3:c.11888C>T XP_005268334.1:p.Thr3963Met
XM_006720726.2:c.11987C>T XP_006720789.1:p.Thr3996Met
XM_006720727.2:c.11744C>T XP_006720790.1:p.Thr3915Met
XM_011522131.1:c.11519C>T XP_011520433.1:p.Thr3840Met
XM_011522132.1:c.9518C>T XP_011520434.1:p.Thr3173Met
XM_011522133.1:c.8747C>T XP_011520435.1:p.Thr2916Met
XM_011522134.1:c.6119C>T XP_011520436.1:p.Thr2040Met
XM_005268276.5:c.11888C>T XP_005268333.1:p.Thr3963Met
XM_006720726.3:c.11987C>T XP_006720789.1:p.Thr3996Met
XM_006720727.3:c.11744C>T XP_006720790.1:p.Thr3915Met
XM_017022695.1:c.11888C>T XP_016878184.1:p.Thr3963Met
XM_017022696.1:c.11888C>T XP_016878185.1:p.Thr3963Met
XM_017022697.1:c.5168C>T XP_016878186.1:p.Thr1723Met
XM_017022698.1:c.5168C>T XP_016878187.1:p.Thr1723Met
NM_004667.6:c.12002C>T MANE Select NP_004658.3:p.Thr4001Met