Canonical Allele Identifier: CA2838499819

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950283dup , CM000669.2:g.150950283dup	GRCh38
NC_000007.13:g.150647371dup , CM000669.1:g.150647371dup	GRCh37
NC_000007.12:g.150278304dup	NCBI36
NG_008916.1:g.32644dup , LRG_288:g.32644dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1581dup
ENST00000684241.1:n.3116dup
ENST00000262186.10:c.2283dup MANE Select	ENSP00000262186.5:p.His762ThrfsTer?
ENST00000330883.9:c.1263dup	ENSP00000328531.4:p.His422ThrfsTer?
ENST00000262186.9:c.2283dup	ENSP00000262186.5:p.His762ThrfsTer?
ENST00000330883.8:c.1263dup	ENSP00000328531.4:p.His422ThrfsTer?
ENST00000430723.4:c.1935dup	ENSP00000387657.4:p.His646ThrfsTer?
ENST00000461280.1:n.1570dup
ENST00000473610.5:n.1915dup
ENST00000532957.5:n.2506dup
NM_000238.3:c.2283dup , LRG_288t1:c.2283dup	NP_000229.1:p.His762ThrfsTer?
NM_001204798.1:c.1263dup	NP_001191727.1:p.His422ThrfsTer?
NM_172056.2:c.2283dup , LRG_288t2:c.2283dup	NP_742053.1:p.His762ThrfsTer?
NM_172057.2:c.1263dup , LRG_288t3:c.1263dup	NP_742054.1:p.His422ThrfsTer?
XM_011516185.1:c.1983dup	XP_011514487.1:p.His662ThrfsTer?
XM_011516186.1:c.2283dup	XP_011514488.1:p.His762ThrfsTer?
XM_011516185.2:c.1983dup	XP_011514487.1:p.His662ThrfsTer?
XM_011516186.3:c.2283dup	XP_011514488.1:p.His762ThrfsTer?
XM_017012195.1:c.2133dup	XP_016867684.1:p.His712ThrfsTer?
XM_017012196.1:c.2106dup	XP_016867685.1:p.His703ThrfsTer?
NM_000238.4:c.2283dup MANE Select	NP_000229.1:p.His762ThrfsTer?
NM_001204798.2:c.1263dup	NP_001191727.1:p.His422ThrfsTer?
NM_172057.3:c.1263dup	NP_742054.1:p.His422ThrfsTer?