Canonical Allele Identifier: CA2695208707

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950396_150950397dup , CM000669.2:g.150950396_150950397dup	GRCh38
NC_000007.13:g.150647484_150647485dup , CM000669.1:g.150647484_150647485dup	GRCh37
NC_000007.12:g.150278417_150278418dup	NCBI36
NG_008916.1:g.32530_32531dup , LRG_288:g.32530_32531dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1467_1468dup
ENST00000684241.1:n.3002_3003dup
ENST00000262186.10:c.2169_2170dup MANE Select	ENSP00000262186.5:p.Leu724ProfsTer10
ENST00000330883.9:c.1149_1150dup	ENSP00000328531.4:p.Leu384ProfsTer10
ENST00000262186.9:c.2169_2170dup	ENSP00000262186.5:p.Leu724ProfsTer10
ENST00000330883.8:c.1149_1150dup	ENSP00000328531.4:p.Leu384ProfsTer10
ENST00000430723.4:c.1821_1822dup	ENSP00000387657.4:p.Leu608ProfsTer10
ENST00000461280.1:n.1456_1457dup
ENST00000473610.5:n.1801_1802dup
ENST00000532957.5:n.2392_2393dup
NM_000238.3:c.2169_2170dup , LRG_288t1:c.2169_2170dup	NP_000229.1:p.Leu724ProfsTer10
NM_001204798.1:c.1149_1150dup	NP_001191727.1:p.Leu384ProfsTer10
NM_172056.2:c.2169_2170dup , LRG_288t2:c.2169_2170dup	NP_742053.1:p.Leu724ProfsTer10
NM_172057.2:c.1149_1150dup , LRG_288t3:c.1149_1150dup	NP_742054.1:p.Leu384ProfsTer10
XM_011516185.1:c.1869_1870dup	XP_011514487.1:p.Leu624ProfsTer10
XM_011516186.1:c.2169_2170dup	XP_011514488.1:p.Leu724ProfsTer10
XM_011516185.2:c.1869_1870dup	XP_011514487.1:p.Leu624ProfsTer10
XM_011516186.3:c.2169_2170dup	XP_011514488.1:p.Leu724ProfsTer10
XM_017012195.1:c.2019_2020dup	XP_016867684.1:p.Leu674ProfsTer10
XM_017012196.1:c.1992_1993dup	XP_016867685.1:p.Leu665ProfsTer10
NM_000238.4:c.2169_2170dup MANE Select	NP_000229.1:p.Leu724ProfsTer10
NM_001204798.2:c.1149_1150dup	NP_001191727.1:p.Leu384ProfsTer10
NM_172057.3:c.1149_1150dup	NP_742054.1:p.Leu384ProfsTer10