Canonical Allele Identifier: CA2605591227

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116948906
• gnomAD v3: 7-150950199-GATCTC-G
• gnomAD v4: 7-150950199-GATCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950200_150950204del , CM000669.2:g.150950200_150950204del	GRCh38
NC_000007.13:g.150647288_150647292del , CM000669.1:g.150647288_150647292del	GRCh37
NC_000007.12:g.150278221_150278225del	NCBI36
NG_008916.1:g.32723_32727del , LRG_288:g.32723_32727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1660_1664del
ENST00000684241.1:n.3195_3199del
ENST00000262186.10:c.2362_2366del MANE Select	ENSP00000262186.5:p.Glu788ProfsTer14
ENST00000330883.9:c.1342_1346del	ENSP00000328531.4:p.Glu448ProfsTer14
ENST00000262186.9:c.2362_2366del	ENSP00000262186.5:p.Glu788ProfsTer14
ENST00000330883.8:c.1342_1346del	ENSP00000328531.4:p.Glu448ProfsTer14
ENST00000430723.4:c.2014_2018del	ENSP00000387657.4:p.Glu672ProfsTer?
ENST00000461280.1:n.1649_1653del
ENST00000473610.5:n.1994_1998del
ENST00000532957.5:n.2585_2589del
NM_000238.3:c.2362_2366del , LRG_288t1:c.2362_2366del	NP_000229.1:p.Glu788ProfsTer14
NM_001204798.1:c.1342_1346del	NP_001191727.1:p.Glu448ProfsTer?
NM_172056.2:c.2362_2366del , LRG_288t2:c.2362_2366del	NP_742053.1:p.Glu788ProfsTer?
NM_172057.2:c.1342_1346del , LRG_288t3:c.1342_1346del	NP_742054.1:p.Glu448ProfsTer14
XM_011516185.1:c.2062_2066del	XP_011514487.1:p.Glu688ProfsTer14
XM_011516186.1:c.2362_2366del	XP_011514488.1:p.Glu788ProfsTer14
XM_011516185.2:c.2062_2066del	XP_011514487.1:p.Glu688ProfsTer14
XM_011516186.3:c.2362_2366del	XP_011514488.1:p.Glu788ProfsTer14
XM_017012195.1:c.2212_2216del	XP_016867684.1:p.Glu738ProfsTer14
XM_017012196.1:c.2185_2189del	XP_016867685.1:p.Glu729ProfsTer14
NM_000238.4:c.2362_2366del MANE Select	NP_000229.1:p.Glu788ProfsTer14
NM_001204798.2:c.1342_1346del	NP_001191727.1:p.Glu448ProfsTer?
NM_172057.3:c.1342_1346del	NP_742054.1:p.Glu448ProfsTer14