Canonical Allele Identifier: CA391381986
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141812C>G , CM000677.2:g.28141812C>G GRCh38
NC_000015.9:g.28386958C>G , CM000677.1:g.28386958C>G GRCh37
NC_000015.8:g.26060553C>G NCBI36
NG_016355.1:g.185338G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11735G>C MANE Select ENSP00000261609.8:p.Ser3912Thr
ENST00000650509.1:c.3446G>C ENSP00000496936.1:p.Ser1149Thr
ENST00000261609.11:c.11735G>C ENSP00000261609.7:p.Ser3912Thr
ENST00000564519.1:n.250G>C
NM_004667.5:c.11735G>C NP_004658.3:p.Ser3912Thr
XM_005268276.3:c.11621G>C XP_005268333.1:p.Ser3874Thr
XM_005268277.3:c.11621G>C XP_005268334.1:p.Ser3874Thr
XM_006720726.2:c.11720G>C XP_006720789.1:p.Ser3907Thr
XM_006720727.2:c.11477G>C XP_006720790.1:p.Ser3826Thr
XM_011522131.1:c.11252G>C XP_011520433.1:p.Ser3751Thr
XM_011522132.1:c.9251G>C XP_011520434.1:p.Ser3084Thr
XM_011522133.1:c.8480G>C XP_011520435.1:p.Ser2827Thr
XM_011522134.1:c.5852G>C XP_011520436.1:p.Ser1951Thr
XM_005268276.5:c.11621G>C XP_005268333.1:p.Ser3874Thr
XM_006720726.3:c.11720G>C XP_006720789.1:p.Ser3907Thr
XM_006720727.3:c.11477G>C XP_006720790.1:p.Ser3826Thr
XM_017022695.1:c.11621G>C XP_016878184.1:p.Ser3874Thr
XM_017022696.1:c.11621G>C XP_016878185.1:p.Ser3874Thr
XM_017022697.1:c.4901G>C XP_016878186.1:p.Ser1634Thr
XM_017022698.1:c.4901G>C XP_016878187.1:p.Ser1634Thr
NM_004667.6:c.11735G>C MANE Select NP_004658.3:p.Ser3912Thr