Canonical Allele Identifier: CA391381453
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11885G>A MANE Select ENSP00000261609.8:p.Arg3962Lys
ENST00000650509.1:c.3596G>A ENSP00000496936.1:p.Arg1199Lys
ENST00000261609.11:c.11885G>A ENSP00000261609.7:p.Arg3962Lys
NM_004667.5:c.11885G>A NP_004658.3:p.Arg3962Lys
XM_005268276.3:c.11771G>A XP_005268333.1:p.Arg3924Lys
XM_005268277.3:c.11771G>A XP_005268334.1:p.Arg3924Lys
XM_006720726.2:c.11870G>A XP_006720789.1:p.Arg3957Lys
XM_006720727.2:c.11627G>A XP_006720790.1:p.Arg3876Lys
XM_011522131.1:c.11402G>A XP_011520433.1:p.Arg3801Lys
XM_011522132.1:c.9401G>A XP_011520434.1:p.Arg3134Lys
XM_011522133.1:c.8630G>A XP_011520435.1:p.Arg2877Lys
XM_011522134.1:c.6002G>A XP_011520436.1:p.Arg2001Lys
XM_005268276.5:c.11771G>A XP_005268333.1:p.Arg3924Lys
XM_006720726.3:c.11870G>A XP_006720789.1:p.Arg3957Lys
XM_006720727.3:c.11627G>A XP_006720790.1:p.Arg3876Lys
XM_017022695.1:c.11771G>A XP_016878184.1:p.Arg3924Lys
XM_017022696.1:c.11771G>A XP_016878185.1:p.Arg3924Lys
XM_017022697.1:c.5051G>A XP_016878186.1:p.Arg1684Lys
XM_017022698.1:c.5051G>A XP_016878187.1:p.Arg1684Lys
NM_004667.6:c.11885G>A MANE Select NP_004658.3:p.Arg3962Lys