Canonical Allele Identifier: CA391380812
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141436C>G , CM000677.2:g.28141436C>G GRCh38
NC_000015.9:g.28386582C>G , CM000677.1:g.28386582C>G GRCh37
NC_000015.8:g.26060177C>G NCBI36
NG_016355.1:g.185714G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.12011G>C MANE Select ENSP00000261609.8:p.Gly4004Ala
ENST00000650509.1:c.3722G>C ENSP00000496936.1:p.Gly1241Ala
ENST00000261609.11:c.12011G>C ENSP00000261609.7:p.Gly4004Ala
NM_004667.5:c.12011G>C NP_004658.3:p.Gly4004Ala
XM_005268276.3:c.11897G>C XP_005268333.1:p.Gly3966Ala
XM_005268277.3:c.11897G>C XP_005268334.1:p.Gly3966Ala
XM_006720726.2:c.11996G>C XP_006720789.1:p.Gly3999Ala
XM_006720727.2:c.11753G>C XP_006720790.1:p.Gly3918Ala
XM_011522131.1:c.11528G>C XP_011520433.1:p.Gly3843Ala
XM_011522132.1:c.9527G>C XP_011520434.1:p.Gly3176Ala
XM_011522133.1:c.8756G>C XP_011520435.1:p.Gly2919Ala
XM_011522134.1:c.6128G>C XP_011520436.1:p.Gly2043Ala
XM_005268276.5:c.11897G>C XP_005268333.1:p.Gly3966Ala
XM_006720726.3:c.11996G>C XP_006720789.1:p.Gly3999Ala
XM_006720727.3:c.11753G>C XP_006720790.1:p.Gly3918Ala
XM_017022695.1:c.11897G>C XP_016878184.1:p.Gly3966Ala
XM_017022696.1:c.11897G>C XP_016878185.1:p.Gly3966Ala
XM_017022697.1:c.5177G>C XP_016878186.1:p.Gly1726Ala
XM_017022698.1:c.5177G>C XP_016878187.1:p.Gly1726Ala
NM_004667.6:c.12011G>C MANE Select NP_004658.3:p.Gly4004Ala