Canonical Allele Identifier: CA391381942
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141792G>T , CM000677.2:g.28141792G>T GRCh38
NC_000015.9:g.28386938G>T , CM000677.1:g.28386938G>T GRCh37
NC_000015.8:g.26060533G>T NCBI36
NG_016355.1:g.185358C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11755C>A MANE Select ENSP00000261609.8:p.His3919Asn
ENST00000650509.1:c.3466C>A ENSP00000496936.1:p.His1156Asn
ENST00000261609.11:c.11755C>A ENSP00000261609.7:p.His3919Asn
ENST00000564519.1:n.270C>A
NM_004667.5:c.11755C>A NP_004658.3:p.His3919Asn
XM_005268276.3:c.11641C>A XP_005268333.1:p.His3881Asn
XM_005268277.3:c.11641C>A XP_005268334.1:p.His3881Asn
XM_006720726.2:c.11740C>A XP_006720789.1:p.His3914Asn
XM_006720727.2:c.11497C>A XP_006720790.1:p.His3833Asn
XM_011522131.1:c.11272C>A XP_011520433.1:p.His3758Asn
XM_011522132.1:c.9271C>A XP_011520434.1:p.His3091Asn
XM_011522133.1:c.8500C>A XP_011520435.1:p.His2834Asn
XM_011522134.1:c.5872C>A XP_011520436.1:p.His1958Asn
XM_005268276.5:c.11641C>A XP_005268333.1:p.His3881Asn
XM_006720726.3:c.11740C>A XP_006720789.1:p.His3914Asn
XM_006720727.3:c.11497C>A XP_006720790.1:p.His3833Asn
XM_017022695.1:c.11641C>A XP_016878184.1:p.His3881Asn
XM_017022696.1:c.11641C>A XP_016878185.1:p.His3881Asn
XM_017022697.1:c.4921C>A XP_016878186.1:p.His1641Asn
XM_017022698.1:c.4921C>A XP_016878187.1:p.His1641Asn
NM_004667.6:c.11755C>A MANE Select NP_004658.3:p.His3919Asn