Canonical Allele Identifier: CA391381893
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141773A>G , CM000677.2:g.28141773A>G GRCh38
NC_000015.9:g.28386919A>G , CM000677.1:g.28386919A>G GRCh37
NC_000015.8:g.26060514A>G NCBI36
NG_016355.1:g.185377T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11774T>C MANE Select ENSP00000261609.8:p.Phe3925Ser
ENST00000650509.1:c.3485T>C ENSP00000496936.1:p.Phe1162Ser
ENST00000261609.11:c.11774T>C ENSP00000261609.7:p.Phe3925Ser
ENST00000564519.1:n.289T>C
NM_004667.5:c.11774T>C NP_004658.3:p.Phe3925Ser
XM_005268276.3:c.11660T>C XP_005268333.1:p.Phe3887Ser
XM_005268277.3:c.11660T>C XP_005268334.1:p.Phe3887Ser
XM_006720726.2:c.11759T>C XP_006720789.1:p.Phe3920Ser
XM_006720727.2:c.11516T>C XP_006720790.1:p.Phe3839Ser
XM_011522131.1:c.11291T>C XP_011520433.1:p.Phe3764Ser
XM_011522132.1:c.9290T>C XP_011520434.1:p.Phe3097Ser
XM_011522133.1:c.8519T>C XP_011520435.1:p.Phe2840Ser
XM_011522134.1:c.5891T>C XP_011520436.1:p.Phe1964Ser
XM_005268276.5:c.11660T>C XP_005268333.1:p.Phe3887Ser
XM_006720726.3:c.11759T>C XP_006720789.1:p.Phe3920Ser
XM_006720727.3:c.11516T>C XP_006720790.1:p.Phe3839Ser
XM_017022695.1:c.11660T>C XP_016878184.1:p.Phe3887Ser
XM_017022696.1:c.11660T>C XP_016878185.1:p.Phe3887Ser
XM_017022697.1:c.4940T>C XP_016878186.1:p.Phe1647Ser
XM_017022698.1:c.4940T>C XP_016878187.1:p.Phe1647Ser
NM_004667.6:c.11774T>C MANE Select NP_004658.3:p.Phe3925Ser