Canonical Allele Identifier: CA391381448
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141561C>A , CM000677.2:g.28141561C>A GRCh38
NC_000015.9:g.28386707C>A , CM000677.1:g.28386707C>A GRCh37
NC_000015.8:g.26060302C>A NCBI36
NG_016355.1:g.185589G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11886G>T MANE Select ENSP00000261609.8:p.Arg3962Ser
ENST00000650509.1:c.3597G>T ENSP00000496936.1:p.Arg1199Ser
ENST00000261609.11:c.11886G>T ENSP00000261609.7:p.Arg3962Ser
NM_004667.5:c.11886G>T NP_004658.3:p.Arg3962Ser
XM_005268276.3:c.11772G>T XP_005268333.1:p.Arg3924Ser
XM_005268277.3:c.11772G>T XP_005268334.1:p.Arg3924Ser
XM_006720726.2:c.11871G>T XP_006720789.1:p.Arg3957Ser
XM_006720727.2:c.11628G>T XP_006720790.1:p.Arg3876Ser
XM_011522131.1:c.11403G>T XP_011520433.1:p.Arg3801Ser
XM_011522132.1:c.9402G>T XP_011520434.1:p.Arg3134Ser
XM_011522133.1:c.8631G>T XP_011520435.1:p.Arg2877Ser
XM_011522134.1:c.6003G>T XP_011520436.1:p.Arg2001Ser
XM_005268276.5:c.11772G>T XP_005268333.1:p.Arg3924Ser
XM_006720726.3:c.11871G>T XP_006720789.1:p.Arg3957Ser
XM_006720727.3:c.11628G>T XP_006720790.1:p.Arg3876Ser
XM_017022695.1:c.11772G>T XP_016878184.1:p.Arg3924Ser
XM_017022696.1:c.11772G>T XP_016878185.1:p.Arg3924Ser
XM_017022697.1:c.5052G>T XP_016878186.1:p.Arg1684Ser
XM_017022698.1:c.5052G>T XP_016878187.1:p.Arg1684Ser
NM_004667.6:c.11886G>T MANE Select NP_004658.3:p.Arg3962Ser