Canonical Allele Identifier: CA391367651
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28111766G>C , CM000677.2:g.28111766G>C GRCh38
NC_000015.9:g.28356912G>C , CM000677.1:g.28356912G>C GRCh37
NC_000015.8:g.26030507G>C NCBI36
NG_016355.1:g.215384C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.14502C>G MANE Select ENSP00000261609.8:p.His4834Gln
ENST00000650509.1:c.5981C>G ENSP00000496936.1:n.5981C>G
ENST00000261609.11:c.14502C>G ENSP00000261609.7:p.His4834Gln
ENST00000562136.1:n.628C>G
ENST00000566635.5:n.1627C>G
NM_004667.5:c.14502C>G NP_004658.3:p.His4834Gln
XM_005268276.3:c.14388C>G XP_005268333.1:p.His4796Gln
XM_005268277.3:c.14388C>G XP_005268334.1:p.His4796Gln
XM_006720726.2:c.14487C>G XP_006720789.1:p.His4829Gln
XM_006720727.2:c.14244C>G XP_006720790.1:p.His4748Gln
XM_011522131.1:c.14019C>G XP_011520433.1:p.His4673Gln
XM_011522132.1:c.12018C>G XP_011520434.1:p.His4006Gln
XM_011522133.1:c.11247C>G XP_011520435.1:p.His3749Gln
XM_011522134.1:c.8619C>G XP_011520436.1:p.His2873Gln
XM_005268276.5:c.14388C>G XP_005268333.1:p.His4796Gln
XM_006720726.3:c.14487C>G XP_006720789.1:p.His4829Gln
XM_006720727.3:c.14244C>G XP_006720790.1:p.His4748Gln
XM_017022695.1:c.14388C>G XP_016878184.1:p.His4796Gln
XM_017022696.1:c.14388C>G XP_016878185.1:p.His4796Gln
XM_017022697.1:c.7668C>G XP_016878186.1:p.His2556Gln
XM_017022698.1:c.7668C>G XP_016878187.1:p.His2556Gln
NM_004667.6:c.14502C>G MANE Select NP_004658.3:p.His4834Gln