Canonical Allele Identifier: CA391381281
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141515G>T , CM000677.2:g.28141515G>T GRCh38
NC_000015.9:g.28386661G>T , CM000677.1:g.28386661G>T GRCh37
NC_000015.8:g.26060256G>T NCBI36
NG_016355.1:g.185635C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11932C>A MANE Select ENSP00000261609.8:p.Pro3978Thr
ENST00000650509.1:c.3643C>A ENSP00000496936.1:p.Pro1215Thr
ENST00000261609.11:c.11932C>A ENSP00000261609.7:p.Pro3978Thr
NM_004667.5:c.11932C>A NP_004658.3:p.Pro3978Thr
XM_005268276.3:c.11818C>A XP_005268333.1:p.Pro3940Thr
XM_005268277.3:c.11818C>A XP_005268334.1:p.Pro3940Thr
XM_006720726.2:c.11917C>A XP_006720789.1:p.Pro3973Thr
XM_006720727.2:c.11674C>A XP_006720790.1:p.Pro3892Thr
XM_011522131.1:c.11449C>A XP_011520433.1:p.Pro3817Thr
XM_011522132.1:c.9448C>A XP_011520434.1:p.Pro3150Thr
XM_011522133.1:c.8677C>A XP_011520435.1:p.Pro2893Thr
XM_011522134.1:c.6049C>A XP_011520436.1:p.Pro2017Thr
XM_005268276.5:c.11818C>A XP_005268333.1:p.Pro3940Thr
XM_006720726.3:c.11917C>A XP_006720789.1:p.Pro3973Thr
XM_006720727.3:c.11674C>A XP_006720790.1:p.Pro3892Thr
XM_017022695.1:c.11818C>A XP_016878184.1:p.Pro3940Thr
XM_017022696.1:c.11818C>A XP_016878185.1:p.Pro3940Thr
XM_017022697.1:c.5098C>A XP_016878186.1:p.Pro1700Thr
XM_017022698.1:c.5098C>A XP_016878187.1:p.Pro1700Thr
NM_004667.6:c.11932C>A MANE Select NP_004658.3:p.Pro3978Thr