Canonical Allele Identifier: CA391381479
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141567A>T , CM000677.2:g.28141567A>T GRCh38
NC_000015.9:g.28386713A>T , CM000677.1:g.28386713A>T GRCh37
NC_000015.8:g.26060308A>T NCBI36
NG_016355.1:g.185583T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11880T>A MANE Select ENSP00000261609.8:p.Asn3960Lys
ENST00000650509.1:c.3591T>A ENSP00000496936.1:p.Asn1197Lys
ENST00000261609.11:c.11880T>A ENSP00000261609.7:p.Asn3960Lys
NM_004667.5:c.11880T>A NP_004658.3:p.Asn3960Lys
XM_005268276.3:c.11766T>A XP_005268333.1:p.Asn3922Lys
XM_005268277.3:c.11766T>A XP_005268334.1:p.Asn3922Lys
XM_006720726.2:c.11865T>A XP_006720789.1:p.Asn3955Lys
XM_006720727.2:c.11622T>A XP_006720790.1:p.Asn3874Lys
XM_011522131.1:c.11397T>A XP_011520433.1:p.Asn3799Lys
XM_011522132.1:c.9396T>A XP_011520434.1:p.Asn3132Lys
XM_011522133.1:c.8625T>A XP_011520435.1:p.Asn2875Lys
XM_011522134.1:c.5997T>A XP_011520436.1:p.Asn1999Lys
XM_005268276.5:c.11766T>A XP_005268333.1:p.Asn3922Lys
XM_006720726.3:c.11865T>A XP_006720789.1:p.Asn3955Lys
XM_006720727.3:c.11622T>A XP_006720790.1:p.Asn3874Lys
XM_017022695.1:c.11766T>A XP_016878184.1:p.Asn3922Lys
XM_017022696.1:c.11766T>A XP_016878185.1:p.Asn3922Lys
XM_017022697.1:c.5046T>A XP_016878186.1:p.Asn1682Lys
XM_017022698.1:c.5046T>A XP_016878187.1:p.Asn1682Lys
NM_004667.6:c.11880T>A MANE Select NP_004658.3:p.Asn3960Lys