Canonical Allele Identifier: CA2695208725

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951639del , CM000669.2:g.150951639del	GRCh38
NC_000007.13:g.150648727del , CM000669.1:g.150648727del	GRCh37
NC_000007.12:g.150279660del	NCBI36
NG_008916.1:g.31289del , LRG_288:g.31289del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1053del
ENST00000684241.1:n.2588del
ENST00000262186.10:c.1755del MANE Select	ENSP00000262186.5:p.Trp585CysfsTer9
ENST00000330883.9:c.735del	ENSP00000328531.4:p.Trp245CysfsTer9
ENST00000262186.9:c.1755del	ENSP00000262186.5:p.Trp585CysfsTer9
ENST00000330883.8:c.735del	ENSP00000328531.4:p.Trp245CysfsTer9
ENST00000430723.4:c.1407del	ENSP00000387657.4:p.Trp469CysfsTer9
ENST00000461280.1:n.1042del
ENST00000473610.5:n.1060del
ENST00000532957.5:n.1978del
NM_000238.3:c.1755del , LRG_288t1:c.1755del	NP_000229.1:p.Trp585CysfsTer9
NM_001204798.1:c.735del	NP_001191727.1:p.Trp245CysfsTer9
NM_172056.2:c.1755del , LRG_288t2:c.1755del	NP_742053.1:p.Trp585CysfsTer9
NM_172057.2:c.735del , LRG_288t3:c.735del	NP_742054.1:p.Trp245CysfsTer9
XM_011516185.1:c.1455del	XP_011514487.1:p.Trp485CysfsTer9
XM_011516186.1:c.1755del	XP_011514488.1:p.Trp585CysfsTer9
XM_011516185.2:c.1455del	XP_011514487.1:p.Trp485CysfsTer9
XM_011516186.3:c.1755del	XP_011514488.1:p.Trp585CysfsTer9
XM_017012195.1:c.1605del	XP_016867684.1:p.Trp535CysfsTer9
XM_017012196.1:c.1578del	XP_016867685.1:p.Trp526CysfsTer9
NM_000238.4:c.1755del MANE Select	NP_000229.1:p.Trp585CysfsTer9
NM_001204798.2:c.735del	NP_001191727.1:p.Trp245CysfsTer9
NM_172057.3:c.735del	NP_742054.1:p.Trp245CysfsTer9