Canonical Allele Identifier: CA2685604281

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950199-GATCTCGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950200_150950207del , CM000669.2:g.150950200_150950207del	GRCh38
NC_000007.13:g.150647288_150647295del , CM000669.1:g.150647288_150647295del	GRCh37
NC_000007.12:g.150278221_150278228del	NCBI36
NG_008916.1:g.32720_32727del , LRG_288:g.32720_32727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1657_1664del
ENST00000684241.1:n.3192_3199del
ENST00000262186.10:c.2359_2366del MANE Select	ENSP00000262186.5:p.Ile787ProfsTer14
ENST00000330883.9:c.1339_1346del	ENSP00000328531.4:p.Ile447ProfsTer14
ENST00000262186.9:c.2359_2366del	ENSP00000262186.5:p.Ile787ProfsTer14
ENST00000330883.8:c.1339_1346del	ENSP00000328531.4:p.Ile447ProfsTer14
ENST00000430723.4:c.2011_2018del	ENSP00000387657.4:p.Ile671ProfsTer?
ENST00000461280.1:n.1646_1653del
ENST00000473610.5:n.1991_1998del
ENST00000532957.5:n.2582_2589del
NM_000238.3:c.2359_2366del , LRG_288t1:c.2359_2366del	NP_000229.1:p.Ile787ProfsTer14
NM_001204798.1:c.1339_1346del	NP_001191727.1:p.Ile447ProfsTer?
NM_172056.2:c.2359_2366del , LRG_288t2:c.2359_2366del	NP_742053.1:p.Ile787ProfsTer?
NM_172057.2:c.1339_1346del , LRG_288t3:c.1339_1346del	NP_742054.1:p.Ile447ProfsTer14
XM_011516185.1:c.2059_2066del	XP_011514487.1:p.Ile687ProfsTer14
XM_011516186.1:c.2359_2366del	XP_011514488.1:p.Ile787ProfsTer14
XM_011516185.2:c.2059_2066del	XP_011514487.1:p.Ile687ProfsTer14
XM_011516186.3:c.2359_2366del	XP_011514488.1:p.Ile787ProfsTer14
XM_017012195.1:c.2209_2216del	XP_016867684.1:p.Ile737ProfsTer14
XM_017012196.1:c.2182_2189del	XP_016867685.1:p.Ile728ProfsTer14
NM_000238.4:c.2359_2366del MANE Select	NP_000229.1:p.Ile787ProfsTer14
NM_001204798.2:c.1339_1346del	NP_001191727.1:p.Ile447ProfsTer?
NM_172057.3:c.1339_1346del	NP_742054.1:p.Ile447ProfsTer14