Canonical Allele Identifier: CA1752434165

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950950_150950951delinsAC , CM000669.2:g.150950950_150950951delinsAC	GRCh38
NC_000007.13:g.150648038_150648039delinsAC , CM000669.1:g.150648038_150648039delinsAC	GRCh37
NC_000007.12:g.150278971_150278972delinsAC	NCBI36
NG_008916.1:g.31976_31977delinsGT , LRG_288:g.31976_31977delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1413_1414delinsGT
ENST00000683359.1:n.239_240delinsGT
ENST00000684241.1:n.2948_2949delinsGT
ENST00000262186.10:c.2115_2116delinsGT MANE Select	ENSP00000262186.5:p.Trp705=
ENST00000330883.9:c.1095_1096delinsGT	ENSP00000328531.4:p.Trp365=
ENST00000262186.9:c.2115_2116delinsGT	ENSP00000262186.5:p.Trp705=
ENST00000330883.8:c.1095_1096delinsGT	ENSP00000328531.4:p.Trp365=
ENST00000430723.4:c.1767_1768delinsGT	ENSP00000387657.4:p.Trp589=
ENST00000461280.1:n.1402_1403delinsGT
ENST00000473610.5:n.1747_1748delinsGT
ENST00000532957.5:n.2338_2339delinsGT
NM_000238.3:c.2115_2116delinsGT , LRG_288t1:c.2115_2116delinsGT	NP_000229.1:p.Trp705=
NM_001204798.1:c.1095_1096delinsGT	NP_001191727.1:p.Trp365=
NM_172056.2:c.2115_2116delinsGT , LRG_288t2:c.2115_2116delinsGT	NP_742053.1:p.Trp705=
NM_172057.2:c.1095_1096delinsGT , LRG_288t3:c.1095_1096delinsGT	NP_742054.1:p.Trp365=
XM_011516185.1:c.1815_1816delinsGT	XP_011514487.1:p.Trp605=
XM_011516186.1:c.2115_2116delinsGT	XP_011514488.1:p.Trp705=
XM_011516185.2:c.1815_1816delinsGT	XP_011514487.1:p.Trp605=
XM_011516186.3:c.2115_2116delinsGT	XP_011514488.1:p.Trp705=
XM_017012195.1:c.1965_1966delinsGT	XP_016867684.1:p.Trp655=
XM_017012196.1:c.1938_1939delinsGT	XP_016867685.1:p.Trp646=
NM_000238.4:c.2115_2116delinsGT MANE Select	NP_000229.1:p.Trp705=
NM_001204798.2:c.1095_1096delinsGT	NP_001191727.1:p.Trp365=
NM_172057.3:c.1095_1096delinsGT	NP_742054.1:p.Trp365=