Canonical Allele Identifier: CA391382030
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141833A>T , CM000677.2:g.28141833A>T GRCh38
NC_000015.9:g.28386979A>T , CM000677.1:g.28386979A>T GRCh37
NC_000015.8:g.26060574A>T NCBI36
NG_016355.1:g.185317T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11714T>A MANE Select ENSP00000261609.8:p.Ile3905Asn
ENST00000650509.1:c.3425T>A ENSP00000496936.1:p.Ile1142Asn
ENST00000261609.11:c.11714T>A ENSP00000261609.7:p.Ile3905Asn
ENST00000564519.1:n.229T>A
NM_004667.5:c.11714T>A NP_004658.3:p.Ile3905Asn
XM_005268276.3:c.11600T>A XP_005268333.1:p.Ile3867Asn
XM_005268277.3:c.11600T>A XP_005268334.1:p.Ile3867Asn
XM_006720726.2:c.11699T>A XP_006720789.1:p.Ile3900Asn
XM_006720727.2:c.11456T>A XP_006720790.1:p.Ile3819Asn
XM_011522131.1:c.11231T>A XP_011520433.1:p.Ile3744Asn
XM_011522132.1:c.9230T>A XP_011520434.1:p.Ile3077Asn
XM_011522133.1:c.8459T>A XP_011520435.1:p.Ile2820Asn
XM_011522134.1:c.5831T>A XP_011520436.1:p.Ile1944Asn
XM_005268276.5:c.11600T>A XP_005268333.1:p.Ile3867Asn
XM_006720726.3:c.11699T>A XP_006720789.1:p.Ile3900Asn
XM_006720727.3:c.11456T>A XP_006720790.1:p.Ile3819Asn
XM_017022695.1:c.11600T>A XP_016878184.1:p.Ile3867Asn
XM_017022696.1:c.11600T>A XP_016878185.1:p.Ile3867Asn
XM_017022697.1:c.4880T>A XP_016878186.1:p.Ile1627Asn
XM_017022698.1:c.4880T>A XP_016878187.1:p.Ile1627Asn
NM_004667.6:c.11714T>A MANE Select NP_004658.3:p.Ile3905Asn