Canonical Allele Identifier: CA658761328

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950385_150950402dup , CM000669.2:g.150950385_150950402dup	GRCh38
NC_000007.13:g.150647473_150647490dup , CM000669.1:g.150647473_150647490dup	GRCh37
NC_000007.12:g.150278406_150278423dup	NCBI36
NG_008916.1:g.32525_32542dup , LRG_288:g.32525_32542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1462_1479dup
ENST00000684241.1:n.2997_3014dup
ENST00000262186.10:c.2164_2181dup MANE Select	ENSP00000262186.5:p.Asp727_Ile728insGluCysLeuGlnAlaAsp
ENST00000330883.9:c.1144_1161dup	ENSP00000328531.4:p.Asp387_Ile388insGluCysLeuGlnAlaAsp
ENST00000262186.9:c.2164_2181dup	ENSP00000262186.5:p.Asp727_Ile728insGluCysLeuGlnAlaAsp
ENST00000330883.8:c.1144_1161dup	ENSP00000328531.4:p.Asp387_Ile388insGluCysLeuGlnAlaAsp
ENST00000430723.4:c.1816_1833dup	ENSP00000387657.4:p.Asp611_Ile612insGluCysLeuGlnAlaAsp
ENST00000461280.1:n.1451_1468dup
ENST00000473610.5:n.1796_1813dup
ENST00000532957.5:n.2387_2404dup
NM_000238.3:c.2164_2181dup , LRG_288t1:c.2164_2181dup	NP_000229.1:p.Asp727_Ile728insGluCysLeuGlnAlaAsp
NM_001204798.1:c.1144_1161dup	NP_001191727.1:p.Asp387_Ile388insGluCysLeuGlnAlaAsp
NM_172056.2:c.2164_2181dup , LRG_288t2:c.2164_2181dup	NP_742053.1:p.Asp727_Ile728insGluCysLeuGlnAlaAsp
NM_172057.2:c.1144_1161dup , LRG_288t3:c.1144_1161dup	NP_742054.1:p.Asp387_Ile388insGluCysLeuGlnAlaAsp
XM_011516185.1:c.1864_1881dup	XP_011514487.1:p.Asp627_Ile628insGluCysLeuGlnAlaAsp
XM_011516186.1:c.2164_2181dup	XP_011514488.1:p.Asp727_Ile728insGluCysLeuGlnAlaAsp
XM_011516185.2:c.1864_1881dup	XP_011514487.1:p.Asp627_Ile628insGluCysLeuGlnAlaAsp
XM_011516186.3:c.2164_2181dup	XP_011514488.1:p.Asp727_Ile728insGluCysLeuGlnAlaAsp
XM_017012195.1:c.2014_2031dup	XP_016867684.1:p.Asp677_Ile678insGluCysLeuGlnAlaAsp
XM_017012196.1:c.1987_2004dup	XP_016867685.1:p.Asp668_Ile669insGluCysLeuGlnAlaAsp
NM_000238.4:c.2164_2181dup MANE Select	NP_000229.1:p.Asp727_Ile728insGluCysLeuGlnAlaAsp
NM_001204798.2:c.1144_1161dup	NP_001191727.1:p.Asp387_Ile388insGluCysLeuGlnAlaAsp
NM_172057.3:c.1144_1161dup	NP_742054.1:p.Asp387_Ile388insGluCysLeuGlnAlaAsp