Canonical Allele Identifier: CA391381579
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141590T>A , CM000677.2:g.28141590T>A GRCh38
NC_000015.9:g.28386736T>A , CM000677.1:g.28386736T>A GRCh37
NC_000015.8:g.26060331T>A NCBI36
NG_016355.1:g.185560A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11857A>T MANE Select ENSP00000261609.8:p.Thr3953Ser
ENST00000650509.1:c.3568A>T ENSP00000496936.1:p.Thr1190Ser
ENST00000261609.11:c.11857A>T ENSP00000261609.7:p.Thr3953Ser
NM_004667.5:c.11857A>T NP_004658.3:p.Thr3953Ser
XM_005268276.3:c.11743A>T XP_005268333.1:p.Thr3915Ser
XM_005268277.3:c.11743A>T XP_005268334.1:p.Thr3915Ser
XM_006720726.2:c.11842A>T XP_006720789.1:p.Thr3948Ser
XM_006720727.2:c.11599A>T XP_006720790.1:p.Thr3867Ser
XM_011522131.1:c.11374A>T XP_011520433.1:p.Thr3792Ser
XM_011522132.1:c.9373A>T XP_011520434.1:p.Thr3125Ser
XM_011522133.1:c.8602A>T XP_011520435.1:p.Thr2868Ser
XM_011522134.1:c.5974A>T XP_011520436.1:p.Thr1992Ser
XM_005268276.5:c.11743A>T XP_005268333.1:p.Thr3915Ser
XM_006720726.3:c.11842A>T XP_006720789.1:p.Thr3948Ser
XM_006720727.3:c.11599A>T XP_006720790.1:p.Thr3867Ser
XM_017022695.1:c.11743A>T XP_016878184.1:p.Thr3915Ser
XM_017022696.1:c.11743A>T XP_016878185.1:p.Thr3915Ser
XM_017022697.1:c.5023A>T XP_016878186.1:p.Thr1675Ser
XM_017022698.1:c.5023A>T XP_016878187.1:p.Thr1675Ser
NM_004667.6:c.11857A>T MANE Select NP_004658.3:p.Thr3953Ser