Canonical Allele Identifier: CA488961161
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28130164A>G , CM000677.2:g.28130164A>G GRCh38
NC_000015.9:g.28375310A>G , CM000677.1:g.28375310A>G GRCh37
NC_000015.8:g.26048905A>G NCBI36
NG_016355.1:g.196986T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.12801T>C MANE Select ENSP00000261609.8:p.Asp4267=
ENST00000650509.1:c.4281+1936T>C ENSP00000496936.1:n.4281+1936T>C
ENST00000261609.11:c.12801T>C ENSP00000261609.7:p.Asp4267=
NM_004667.5:c.12801T>C NP_004658.3:p.Asp4267=
XM_005268276.3:c.12687T>C XP_005268333.1:p.Asp4229=
XM_005268277.3:c.12687T>C XP_005268334.1:p.Asp4229=
XM_006720726.2:c.12786T>C XP_006720789.1:p.Asp4262=
XM_006720727.2:c.12543T>C XP_006720790.1:p.Asp4181=
XM_011522131.1:c.12318T>C XP_011520433.1:p.Asp4106=
XM_011522132.1:c.10317T>C XP_011520434.1:p.Asp3439=
XM_011522133.1:c.9546T>C XP_011520435.1:p.Asp3182=
XM_011522134.1:c.6918T>C XP_011520436.1:p.Asp2306=
XM_005268276.5:c.12687T>C XP_005268333.1:p.Asp4229=
XM_006720726.3:c.12786T>C XP_006720789.1:p.Asp4262=
XM_006720727.3:c.12543T>C XP_006720790.1:p.Asp4181=
XM_017022695.1:c.12687T>C XP_016878184.1:p.Asp4229=
XM_017022696.1:c.12687T>C XP_016878185.1:p.Asp4229=
XM_017022697.1:c.5967T>C XP_016878186.1:p.Asp1989=
XM_017022698.1:c.5967T>C XP_016878187.1:p.Asp1989=
NM_004667.6:c.12801T>C MANE Select NP_004658.3:p.Asp4267=