Canonical Allele Identifier: CA391381900
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141776A>T , CM000677.2:g.28141776A>T GRCh38
NC_000015.9:g.28386922A>T , CM000677.1:g.28386922A>T GRCh37
NC_000015.8:g.26060517A>T NCBI36
NG_016355.1:g.185374T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11771T>A MANE Select ENSP00000261609.8:p.Ile3924Asn
ENST00000650509.1:c.3482T>A ENSP00000496936.1:p.Ile1161Asn
ENST00000261609.11:c.11771T>A ENSP00000261609.7:p.Ile3924Asn
ENST00000564519.1:n.286T>A
NM_004667.5:c.11771T>A NP_004658.3:p.Ile3924Asn
XM_005268276.3:c.11657T>A XP_005268333.1:p.Ile3886Asn
XM_005268277.3:c.11657T>A XP_005268334.1:p.Ile3886Asn
XM_006720726.2:c.11756T>A XP_006720789.1:p.Ile3919Asn
XM_006720727.2:c.11513T>A XP_006720790.1:p.Ile3838Asn
XM_011522131.1:c.11288T>A XP_011520433.1:p.Ile3763Asn
XM_011522132.1:c.9287T>A XP_011520434.1:p.Ile3096Asn
XM_011522133.1:c.8516T>A XP_011520435.1:p.Ile2839Asn
XM_011522134.1:c.5888T>A XP_011520436.1:p.Ile1963Asn
XM_005268276.5:c.11657T>A XP_005268333.1:p.Ile3886Asn
XM_006720726.3:c.11756T>A XP_006720789.1:p.Ile3919Asn
XM_006720727.3:c.11513T>A XP_006720790.1:p.Ile3838Asn
XM_017022695.1:c.11657T>A XP_016878184.1:p.Ile3886Asn
XM_017022696.1:c.11657T>A XP_016878185.1:p.Ile3886Asn
XM_017022697.1:c.4937T>A XP_016878186.1:p.Ile1646Asn
XM_017022698.1:c.4937T>A XP_016878187.1:p.Ile1646Asn
NM_004667.6:c.11771T>A MANE Select NP_004658.3:p.Ile3924Asn