Canonical Allele Identifier: CA2695208726

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951647_150951661del , CM000669.2:g.150951647_150951661del	GRCh38
NC_000007.13:g.150648735_150648749del , CM000669.1:g.150648735_150648749del	GRCh37
NC_000007.12:g.150279668_150279682del	NCBI36
NG_008916.1:g.31266_31280del , LRG_288:g.31266_31280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1030_1044del
ENST00000684241.1:n.2565_2579del
ENST00000262186.10:c.1732_1746del MANE Select	ENSP00000262186.5:p.His578_Arg582del
ENST00000330883.9:c.712_726del	ENSP00000328531.4:p.His238_Arg242del
ENST00000262186.9:c.1732_1746del	ENSP00000262186.5:p.His578_Arg582del
ENST00000330883.8:c.712_726del	ENSP00000328531.4:p.His238_Arg242del
ENST00000430723.4:c.1384_1398del	ENSP00000387657.4:p.His462_Arg466del
ENST00000461280.1:n.1019_1033del
ENST00000473610.5:n.1037_1051del
ENST00000532957.5:n.1955_1969del
NM_000238.3:c.1732_1746del , LRG_288t1:c.1732_1746del	NP_000229.1:p.His578_Arg582del
NM_001204798.1:c.712_726del	NP_001191727.1:p.His238_Arg242del
NM_172056.2:c.1732_1746del , LRG_288t2:c.1732_1746del	NP_742053.1:p.His578_Arg582del
NM_172057.2:c.712_726del , LRG_288t3:c.712_726del	NP_742054.1:p.His238_Arg242del
XM_011516185.1:c.1432_1446del	XP_011514487.1:p.His478_Arg482del
XM_011516186.1:c.1732_1746del	XP_011514488.1:p.His578_Arg582del
XM_011516185.2:c.1432_1446del	XP_011514487.1:p.His478_Arg482del
XM_011516186.3:c.1732_1746del	XP_011514488.1:p.His578_Arg582del
XM_017012195.1:c.1582_1596del	XP_016867684.1:p.His528_Arg532del
XM_017012196.1:c.1555_1569del	XP_016867685.1:p.His519_Arg523del
NM_000238.4:c.1732_1746del MANE Select	NP_000229.1:p.His578_Arg582del
NM_001204798.2:c.712_726del	NP_001191727.1:p.His238_Arg242del
NM_172057.3:c.712_726del	NP_742054.1:p.His238_Arg242del