Canonical Allele Identifier: CA2685604160

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950187-GTCGCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950188_150950194del , CM000669.2:g.150950188_150950194del	GRCh38
NC_000007.13:g.150647276_150647282del , CM000669.1:g.150647276_150647282del	GRCh37
NC_000007.12:g.150278209_150278215del	NCBI36
NG_008916.1:g.32733_32739del , LRG_288:g.32733_32739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1670_1676del
ENST00000684241.1:n.3205_3211del
ENST00000262186.10:c.2372_2378del MANE Select	ENSP00000262186.5:p.Arg791ProfsTer17
ENST00000330883.9:c.1352_1358del	ENSP00000328531.4:p.Arg451ProfsTer17
ENST00000262186.9:c.2372_2378del	ENSP00000262186.5:p.Arg791ProfsTer17
ENST00000330883.8:c.1352_1358del	ENSP00000328531.4:p.Arg451ProfsTer17
ENST00000430723.4:c.2024_2030del	ENSP00000387657.4:p.Arg675ProfsTer30
ENST00000461280.1:n.1659_1665del
ENST00000473610.5:n.2004_2010del
ENST00000532957.5:n.2595_2601del
NM_000238.3:c.2372_2378del , LRG_288t1:c.2372_2378del	NP_000229.1:p.Arg791ProfsTer17
NM_001204798.1:c.1352_1358del	NP_001191727.1:p.Arg451ProfsTer30
NM_172056.2:c.2372_2378del , LRG_288t2:c.2372_2378del	NP_742053.1:p.Arg791ProfsTer30
NM_172057.2:c.1352_1358del , LRG_288t3:c.1352_1358del	NP_742054.1:p.Arg451ProfsTer17
XM_011516185.1:c.2072_2078del	XP_011514487.1:p.Arg691ProfsTer17
XM_011516186.1:c.2372_2378del	XP_011514488.1:p.Arg791ProfsTer17
XM_011516185.2:c.2072_2078del	XP_011514487.1:p.Arg691ProfsTer17
XM_011516186.3:c.2372_2378del	XP_011514488.1:p.Arg791ProfsTer17
XM_017012195.1:c.2222_2228del	XP_016867684.1:p.Arg741ProfsTer17
XM_017012196.1:c.2195_2201del	XP_016867685.1:p.Arg732ProfsTer17
NM_000238.4:c.2372_2378del MANE Select	NP_000229.1:p.Arg791ProfsTer17
NM_001204798.2:c.1352_1358del	NP_001191727.1:p.Arg451ProfsTer30
NM_172057.3:c.1352_1358del	NP_742054.1:p.Arg451ProfsTer17