Canonical Allele Identifier: CA2552432152

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949976del , CM000669.2:g.150949976del	GRCh38
NC_000007.13:g.150647064del , CM000669.1:g.150647064del	GRCh37
NC_000007.12:g.150277997del	NCBI36
NG_008916.1:g.32951del , LRG_288:g.32951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1888del
ENST00000684241.1:n.3231+192del
ENST00000262186.10:c.2398+192del MANE Select	ENSP00000262186.5:n.2398+192del
ENST00000330883.9:c.1378+192del	ENSP00000328531.4:n.1378+192del
ENST00000262186.9:c.2398+192del	ENSP00000262186.5:n.2398+192del
ENST00000330883.8:c.1378+192del	ENSP00000328531.4:n.1378+192del
ENST00000430723.4:c.2242del	ENSP00000387657.4:p.Ala748LeufsTer24
ENST00000461280.1:n.1877del
ENST00000473610.5:n.2222del
ENST00000532957.5:n.2813del
NM_000238.3:c.2398+192del , LRG_288t1:c.2398+192del	NP_000229.1:n.2398+192del
NM_001204798.1:c.1570del	NP_001191727.1:p.Ala524LeufsTer24
NM_172056.2:c.2590del , LRG_288t2:c.2590del	NP_742053.1:p.Ala864LeufsTer24
NM_172057.2:c.1378+192del , LRG_288t3:c.1378+192del	NP_742054.1:n.1378+192del
XM_011516185.1:c.2098+192del	XP_011514487.1:n.2098+192del
XM_011516186.1:c.2398+192del	XP_011514488.1:n.2398+192del
XM_011516185.2:c.2098+192del	XP_011514487.1:n.2098+192del
XM_011516186.3:c.2398+192del	XP_011514488.1:n.2398+192del
XM_017012195.1:c.2248+192del	XP_016867684.1:n.2248+192del
XM_017012196.1:c.2221+192del	XP_016867685.1:n.2221+192del
NM_000238.4:c.2398+192del MANE Select	NP_000229.1:n.2398+192del
NM_001204798.2:c.1570del	NP_001191727.1:p.Ala524LeufsTer24
NM_172057.3:c.1378+192del	NP_742054.1:n.1378+192del