Canonical Allele Identifier: CA391381452
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141562C>G , CM000677.2:g.28141562C>G GRCh38
NC_000015.9:g.28386708C>G , CM000677.1:g.28386708C>G GRCh37
NC_000015.8:g.26060303C>G NCBI36
NG_016355.1:g.185588G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11885G>C MANE Select ENSP00000261609.8:p.Arg3962Thr
ENST00000650509.1:c.3596G>C ENSP00000496936.1:p.Arg1199Thr
ENST00000261609.11:c.11885G>C ENSP00000261609.7:p.Arg3962Thr
NM_004667.5:c.11885G>C NP_004658.3:p.Arg3962Thr
XM_005268276.3:c.11771G>C XP_005268333.1:p.Arg3924Thr
XM_005268277.3:c.11771G>C XP_005268334.1:p.Arg3924Thr
XM_006720726.2:c.11870G>C XP_006720789.1:p.Arg3957Thr
XM_006720727.2:c.11627G>C XP_006720790.1:p.Arg3876Thr
XM_011522131.1:c.11402G>C XP_011520433.1:p.Arg3801Thr
XM_011522132.1:c.9401G>C XP_011520434.1:p.Arg3134Thr
XM_011522133.1:c.8630G>C XP_011520435.1:p.Arg2877Thr
XM_011522134.1:c.6002G>C XP_011520436.1:p.Arg2001Thr
XM_005268276.5:c.11771G>C XP_005268333.1:p.Arg3924Thr
XM_006720726.3:c.11870G>C XP_006720789.1:p.Arg3957Thr
XM_006720727.3:c.11627G>C XP_006720790.1:p.Arg3876Thr
XM_017022695.1:c.11771G>C XP_016878184.1:p.Arg3924Thr
XM_017022696.1:c.11771G>C XP_016878185.1:p.Arg3924Thr
XM_017022697.1:c.5051G>C XP_016878186.1:p.Arg1684Thr
XM_017022698.1:c.5051G>C XP_016878187.1:p.Arg1684Thr
NM_004667.6:c.11885G>C MANE Select NP_004658.3:p.Arg3962Thr