Canonical Allele Identifier: CA2580077792

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1701539
• ClinVar RCV Id: RCV002276181
• dbSNP Id: rs2116950615

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950367_150950368insCTGG , CM000669.2:g.150950367_150950368insCTGG	GRCh38
NC_000007.13:g.150647455_150647456insCTGG , CM000669.1:g.150647455_150647456insCTGG	GRCh37
NC_000007.12:g.150278388_150278389insCTGG	NCBI36
NG_008916.1:g.32561_32562insAGCC , LRG_288:g.32561_32562insAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1498_1499insAGCC
ENST00000684241.1:n.3033_3034insAGCC
ENST00000262186.10:c.2200_2201insAGCC MANE Select	ENSP00000262186.5:p.Arg734GlnfsTer?
ENST00000330883.9:c.1180_1181insAGCC	ENSP00000328531.4:p.Arg394GlnfsTer?
ENST00000262186.9:c.2200_2201insAGCC	ENSP00000262186.5:p.Arg734GlnfsTer?
ENST00000330883.8:c.1180_1181insAGCC	ENSP00000328531.4:p.Arg394GlnfsTer?
ENST00000430723.4:c.1852_1853insAGCC	ENSP00000387657.4:p.Arg618GlnfsTer?
ENST00000461280.1:n.1487_1488insAGCC
ENST00000473610.5:n.1832_1833insAGCC
ENST00000532957.5:n.2423_2424insAGCC
NM_000238.3:c.2200_2201insAGCC , LRG_288t1:c.2200_2201insAGCC	NP_000229.1:p.Arg734GlnfsTer?
NM_001204798.1:c.1180_1181insAGCC	NP_001191727.1:p.Arg394GlnfsTer?
NM_172056.2:c.2200_2201insAGCC , LRG_288t2:c.2200_2201insAGCC	NP_742053.1:p.Arg734GlnfsTer?
NM_172057.2:c.1180_1181insAGCC , LRG_288t3:c.1180_1181insAGCC	NP_742054.1:p.Arg394GlnfsTer?
XM_011516185.1:c.1900_1901insAGCC	XP_011514487.1:p.Arg634GlnfsTer?
XM_011516186.1:c.2200_2201insAGCC	XP_011514488.1:p.Arg734GlnfsTer?
XM_011516185.2:c.1900_1901insAGCC	XP_011514487.1:p.Arg634GlnfsTer?
XM_011516186.3:c.2200_2201insAGCC	XP_011514488.1:p.Arg734GlnfsTer?
XM_017012195.1:c.2050_2051insAGCC	XP_016867684.1:p.Arg684GlnfsTer?
XM_017012196.1:c.2023_2024insAGCC	XP_016867685.1:p.Arg675GlnfsTer?
NM_000238.4:c.2200_2201insAGCC MANE Select	NP_000229.1:p.Arg734GlnfsTer?
NM_001204798.2:c.1180_1181insAGCC	NP_001191727.1:p.Arg394GlnfsTer?
NM_172057.3:c.1180_1181insAGCC	NP_742054.1:p.Arg394GlnfsTer?