Canonical Allele Identifier: CA2778426128
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958559_150958561del , CM000669.2:g.150958559_150958561del GRCh38
NC_000007.13:g.150655647_150655649del , CM000669.1:g.150655647_150655649del GRCh37
NC_000007.12:g.150286580_150286582del NCBI36
NG_008916.1:g.24366_24368del , LRG_288:g.24366_24368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1306-59_1306-57del
ENST00000262186.10:c.473-59_473-57del MANE Select ENSP00000262186.5:n.473-59_473-57del
ENST00000262186.9:c.473-59_473-57del ENSP00000262186.5:n.473-59_473-57del
ENST00000430723.4:c.235-169_235-167del ENSP00000387657.4:n.235-169_235-167del
ENST00000532957.5:n.696-59_696-57del
NM_000238.3:c.473-59_473-57del , LRG_288t1:c.473-59_473-57del NP_000229.1:n.473-59_473-57del
NM_172056.2:c.473-59_473-57del , LRG_288t2:c.473-59_473-57del NP_742053.1:n.473-59_473-57del
XM_011516185.1:c.173-59_173-57del XP_011514487.1:n.173-59_173-57del
XM_011516186.1:c.473-59_473-57del XP_011514488.1:n.473-59_473-57del
XM_011516185.2:c.173-59_173-57del XP_011514487.1:n.173-59_173-57del
XM_011516186.3:c.473-59_473-57del XP_011514488.1:n.473-59_473-57del
XM_017012195.1:c.323-59_323-57del XP_016867684.1:n.323-59_323-57del
XM_017012196.1:c.296-59_296-57del XP_016867685.1:n.296-59_296-57del
NM_000238.4:c.473-59_473-57del MANE Select NP_000229.1:n.473-59_473-57del