Canonical Allele Identifier: CA391367648
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28111765A>C , CM000677.2:g.28111765A>C GRCh38
NC_000015.9:g.28356911A>C , CM000677.1:g.28356911A>C GRCh37
NC_000015.8:g.26030506A>C NCBI36
NG_016355.1:g.215385T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.14503T>G MANE Select ENSP00000261609.8:p.Ter4835Glu
ENST00000650509.1:c.5982T>G ENSP00000496936.1:n.5982T>G
ENST00000261609.11:c.14503T>G ENSP00000261609.7:p.Ter4835Glu
ENST00000562136.1:n.629T>G
ENST00000566635.5:n.1628T>G
NM_004667.5:c.14503T>G NP_004658.3:p.Ter4835Glu
XM_005268276.3:c.14389T>G XP_005268333.1:p.Ter4797Glu
XM_005268277.3:c.14389T>G XP_005268334.1:p.Ter4797Glu
XM_006720726.2:c.14488T>G XP_006720789.1:p.Ter4830Glu
XM_006720727.2:c.14245T>G XP_006720790.1:p.Ter4749Glu
XM_011522131.1:c.14020T>G XP_011520433.1:p.Ter4674Glu
XM_011522132.1:c.12019T>G XP_011520434.1:p.Ter4007Glu
XM_011522133.1:c.11248T>G XP_011520435.1:p.Ter3750Glu
XM_011522134.1:c.8620T>G XP_011520436.1:p.Ter2874Glu
XM_005268276.5:c.14389T>G XP_005268333.1:p.Ter4797Glu
XM_006720726.3:c.14488T>G XP_006720789.1:p.Ter4830Glu
XM_006720727.3:c.14245T>G XP_006720790.1:p.Ter4749Glu
XM_017022695.1:c.14389T>G XP_016878184.1:p.Ter4797Glu
XM_017022696.1:c.14389T>G XP_016878185.1:p.Ter4797Glu
XM_017022697.1:c.7669T>G XP_016878186.1:p.Ter2557Glu
XM_017022698.1:c.7669T>G XP_016878187.1:p.Ter2557Glu
NM_004667.6:c.14503T>G MANE Select NP_004658.3:p.Ter4835Glu