Canonical Allele Identifier: CA391381390
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141544A>T , CM000677.2:g.28141544A>T GRCh38
NC_000015.9:g.28386690A>T , CM000677.1:g.28386690A>T GRCh37
NC_000015.8:g.26060285A>T NCBI36
NG_016355.1:g.185606T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11903T>A MANE Select ENSP00000261609.8:p.Ile3968Asn
ENST00000650509.1:c.3614T>A ENSP00000496936.1:p.Ile1205Asn
ENST00000261609.11:c.11903T>A ENSP00000261609.7:p.Ile3968Asn
NM_004667.5:c.11903T>A NP_004658.3:p.Ile3968Asn
XM_005268276.3:c.11789T>A XP_005268333.1:p.Ile3930Asn
XM_005268277.3:c.11789T>A XP_005268334.1:p.Ile3930Asn
XM_006720726.2:c.11888T>A XP_006720789.1:p.Ile3963Asn
XM_006720727.2:c.11645T>A XP_006720790.1:p.Ile3882Asn
XM_011522131.1:c.11420T>A XP_011520433.1:p.Ile3807Asn
XM_011522132.1:c.9419T>A XP_011520434.1:p.Ile3140Asn
XM_011522133.1:c.8648T>A XP_011520435.1:p.Ile2883Asn
XM_011522134.1:c.6020T>A XP_011520436.1:p.Ile2007Asn
XM_005268276.5:c.11789T>A XP_005268333.1:p.Ile3930Asn
XM_006720726.3:c.11888T>A XP_006720789.1:p.Ile3963Asn
XM_006720727.3:c.11645T>A XP_006720790.1:p.Ile3882Asn
XM_017022695.1:c.11789T>A XP_016878184.1:p.Ile3930Asn
XM_017022696.1:c.11789T>A XP_016878185.1:p.Ile3930Asn
XM_017022697.1:c.5069T>A XP_016878186.1:p.Ile1690Asn
XM_017022698.1:c.5069T>A XP_016878187.1:p.Ile1690Asn
NM_004667.6:c.11903T>A MANE Select NP_004658.3:p.Ile3968Asn