Canonical Allele Identifier: CA391381368
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141539C>A , CM000677.2:g.28141539C>A GRCh38
NC_000015.9:g.28386685C>A , CM000677.1:g.28386685C>A GRCh37
NC_000015.8:g.26060280C>A NCBI36
NG_016355.1:g.185611G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11908G>T MANE Select ENSP00000261609.8:p.Gly3970Cys
ENST00000650509.1:c.3619G>T ENSP00000496936.1:p.Gly1207Cys
ENST00000261609.11:c.11908G>T ENSP00000261609.7:p.Gly3970Cys
NM_004667.5:c.11908G>T NP_004658.3:p.Gly3970Cys
XM_005268276.3:c.11794G>T XP_005268333.1:p.Gly3932Cys
XM_005268277.3:c.11794G>T XP_005268334.1:p.Gly3932Cys
XM_006720726.2:c.11893G>T XP_006720789.1:p.Gly3965Cys
XM_006720727.2:c.11650G>T XP_006720790.1:p.Gly3884Cys
XM_011522131.1:c.11425G>T XP_011520433.1:p.Gly3809Cys
XM_011522132.1:c.9424G>T XP_011520434.1:p.Gly3142Cys
XM_011522133.1:c.8653G>T XP_011520435.1:p.Gly2885Cys
XM_011522134.1:c.6025G>T XP_011520436.1:p.Gly2009Cys
XM_005268276.5:c.11794G>T XP_005268333.1:p.Gly3932Cys
XM_006720726.3:c.11893G>T XP_006720789.1:p.Gly3965Cys
XM_006720727.3:c.11650G>T XP_006720790.1:p.Gly3884Cys
XM_017022695.1:c.11794G>T XP_016878184.1:p.Gly3932Cys
XM_017022696.1:c.11794G>T XP_016878185.1:p.Gly3932Cys
XM_017022697.1:c.5074G>T XP_016878186.1:p.Gly1692Cys
XM_017022698.1:c.5074G>T XP_016878187.1:p.Gly1692Cys
NM_004667.6:c.11908G>T MANE Select NP_004658.3:p.Gly3970Cys