Canonical Allele Identifier: CA391381408
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141550C>G , CM000677.2:g.28141550C>G GRCh38
NC_000015.9:g.28386696C>G , CM000677.1:g.28386696C>G GRCh37
NC_000015.8:g.26060291C>G NCBI36
NG_016355.1:g.185600G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11897G>C MANE Select ENSP00000261609.8:p.Gly3966Ala
ENST00000650509.1:c.3608G>C ENSP00000496936.1:p.Gly1203Ala
ENST00000261609.11:c.11897G>C ENSP00000261609.7:p.Gly3966Ala
NM_004667.5:c.11897G>C NP_004658.3:p.Gly3966Ala
XM_005268276.3:c.11783G>C XP_005268333.1:p.Gly3928Ala
XM_005268277.3:c.11783G>C XP_005268334.1:p.Gly3928Ala
XM_006720726.2:c.11882G>C XP_006720789.1:p.Gly3961Ala
XM_006720727.2:c.11639G>C XP_006720790.1:p.Gly3880Ala
XM_011522131.1:c.11414G>C XP_011520433.1:p.Gly3805Ala
XM_011522132.1:c.9413G>C XP_011520434.1:p.Gly3138Ala
XM_011522133.1:c.8642G>C XP_011520435.1:p.Gly2881Ala
XM_011522134.1:c.6014G>C XP_011520436.1:p.Gly2005Ala
XM_005268276.5:c.11783G>C XP_005268333.1:p.Gly3928Ala
XM_006720726.3:c.11882G>C XP_006720789.1:p.Gly3961Ala
XM_006720727.3:c.11639G>C XP_006720790.1:p.Gly3880Ala
XM_017022695.1:c.11783G>C XP_016878184.1:p.Gly3928Ala
XM_017022696.1:c.11783G>C XP_016878185.1:p.Gly3928Ala
XM_017022697.1:c.5063G>C XP_016878186.1:p.Gly1688Ala
XM_017022698.1:c.5063G>C XP_016878187.1:p.Gly1688Ala
NM_004667.6:c.11897G>C MANE Select NP_004658.3:p.Gly3966Ala