Canonical Allele Identifier: CA1139660304

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 937182
• ClinVar RCV Id: RCV001206145
• dbSNP Id: rs1801088980

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950280_150950281del , CM000669.2:g.150950280_150950281del	GRCh38
NC_000007.13:g.150647368_150647369del , CM000669.1:g.150647368_150647369del	GRCh37
NC_000007.12:g.150278301_150278302del	NCBI36
NG_008916.1:g.32646_32647del , LRG_288:g.32646_32647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1583_1584del
ENST00000684241.1:n.3118_3119del
ENST00000262186.10:c.2285_2286del MANE Select	ENSP00000262186.5:p.His762ArgfsTer?
ENST00000330883.9:c.1265_1266del	ENSP00000328531.4:p.His422ArgfsTer?
ENST00000262186.9:c.2285_2286del	ENSP00000262186.5:p.His762ArgfsTer?
ENST00000330883.8:c.1265_1266del	ENSP00000328531.4:p.His422ArgfsTer?
ENST00000430723.4:c.1937_1938del	ENSP00000387657.4:p.His646ArgfsTer?
ENST00000461280.1:n.1572_1573del
ENST00000473610.5:n.1917_1918del
ENST00000532957.5:n.2508_2509del
NM_000238.3:c.2285_2286del , LRG_288t1:c.2285_2286del	NP_000229.1:p.His762ArgfsTer?
NM_001204798.1:c.1265_1266del	NP_001191727.1:p.His422ArgfsTer?
NM_172056.2:c.2285_2286del , LRG_288t2:c.2285_2286del	NP_742053.1:p.His762ArgfsTer?
NM_172057.2:c.1265_1266del , LRG_288t3:c.1265_1266del	NP_742054.1:p.His422ArgfsTer?
XM_011516185.1:c.1985_1986del	XP_011514487.1:p.His662ArgfsTer?
XM_011516186.1:c.2285_2286del	XP_011514488.1:p.His762ArgfsTer?
XM_011516185.2:c.1985_1986del	XP_011514487.1:p.His662ArgfsTer?
XM_011516186.3:c.2285_2286del	XP_011514488.1:p.His762ArgfsTer?
XM_017012195.1:c.2135_2136del	XP_016867684.1:p.His712ArgfsTer?
XM_017012196.1:c.2108_2109del	XP_016867685.1:p.His703ArgfsTer?
NM_000238.4:c.2285_2286del MANE Select	NP_000229.1:p.His762ArgfsTer?
NM_001204798.2:c.1265_1266del	NP_001191727.1:p.His422ArgfsTer?
NM_172057.3:c.1265_1266del	NP_742054.1:p.His422ArgfsTer?