Canonical Allele Identifier: CA1752433295
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950170_150950171delinsAG , CM000669.2:g.150950170_150950171delinsAG GRCh38
NC_000007.13:g.150647258_150647259delinsAG , CM000669.1:g.150647258_150647259delinsAG GRCh37
NC_000007.12:g.150278191_150278192delinsAG NCBI36
NG_008916.1:g.32756_32757delinsCT , LRG_288:g.32756_32757delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1693_1694delinsCT
ENST00000684241.1:n.3228_3229delinsCT
ENST00000262186.10:c.2395_2396delinsCT MANE Select ENSP00000262186.5:p.Leu799=
ENST00000330883.9:c.1375_1376delinsCT ENSP00000328531.4:p.Leu459=
ENST00000262186.9:c.2395_2396delinsCT ENSP00000262186.5:p.Leu799=
ENST00000330883.8:c.1375_1376delinsCT ENSP00000328531.4:p.Leu459=
ENST00000430723.4:c.2047_2048delinsCT ENSP00000387657.4:p.Leu683=
ENST00000461280.1:n.1682_1683delinsCT
ENST00000473610.5:n.2027_2028delinsCT
ENST00000532957.5:n.2618_2619delinsCT
NM_000238.3:c.2395_2396delinsCT , LRG_288t1:c.2395_2396delinsCT NP_000229.1:p.Leu799=
NM_001204798.1:c.1375_1376delinsCT NP_001191727.1:p.Leu459=
NM_172056.2:c.2395_2396delinsCT , LRG_288t2:c.2395_2396delinsCT NP_742053.1:p.Leu799=
NM_172057.2:c.1375_1376delinsCT , LRG_288t3:c.1375_1376delinsCT NP_742054.1:p.Leu459=
XM_011516185.1:c.2095_2096delinsCT XP_011514487.1:p.Leu699=
XM_011516186.1:c.2395_2396delinsCT XP_011514488.1:p.Leu799=
XM_011516185.2:c.2095_2096delinsCT XP_011514487.1:p.Leu699=
XM_011516186.3:c.2395_2396delinsCT XP_011514488.1:p.Leu799=
XM_017012195.1:c.2245_2246delinsCT XP_016867684.1:p.Leu749=
XM_017012196.1:c.2218_2219delinsCT XP_016867685.1:p.Leu740=
NM_000238.4:c.2395_2396delinsCT MANE Select NP_000229.1:p.Leu799=
NM_001204798.2:c.1375_1376delinsCT NP_001191727.1:p.Leu459=
NM_172057.3:c.1375_1376delinsCT NP_742054.1:p.Leu459=