Canonical Allele Identifier: CA2573141864

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1563160
• ClinVar RCV Id: RCV002206897
• dbSNP Id: rs2116953868

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950905_150950906delinsAA , CM000669.2:g.150950905_150950906delinsAA	GRCh38
NC_000007.13:g.150647993_150647994delinsAA , CM000669.1:g.150647993_150647994delinsAA	GRCh37
NC_000007.12:g.150278926_150278927delinsAA	NCBI36
NG_008916.1:g.32021_32022delinsTT , LRG_288:g.32021_32022delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1443+15_1443+16delinsTT
ENST00000683359.1:n.284_285delinsTT
ENST00000684241.1:n.2978+15_2978+16delinsTT
ENST00000262186.10:c.2145+15_2145+16delinsTT MANE Select	ENSP00000262186.5:n.2145+15_2145+16delins...
ENST00000330883.9:c.1125+15_1125+16delinsTT	ENSP00000328531.4:n.1125+15_1125+16delins...
ENST00000262186.9:c.2145+15_2145+16delinsTT	ENSP00000262186.5:n.2145+15_2145+16delins...
ENST00000330883.8:c.1125+15_1125+16delinsTT	ENSP00000328531.4:n.1125+15_1125+16delins...
ENST00000430723.4:c.1797+15_1797+16delinsTT	ENSP00000387657.4:n.1797+15_1797+16delins...
ENST00000461280.1:n.1432+15_1432+16delinsTT
ENST00000473610.5:n.1777+15_1777+16delinsTT
ENST00000532957.5:n.2368+15_2368+16delinsTT
NM_000238.3:c.2145+15_2145+16delinsTT , LRG_288t1:c.2145+15_2145+16delinsTT	NP_000229.1:n.2145+15_2145+16delinsTT
NM_001204798.1:c.1125+15_1125+16delinsTT	NP_001191727.1:n.1125+15_1125+16delinsTT
NM_172056.2:c.2145+15_2145+16delinsTT , LRG_288t2:c.2145+15_2145+16delinsTT	NP_742053.1:n.2145+15_2145+16delinsTT
NM_172057.2:c.1125+15_1125+16delinsTT , LRG_288t3:c.1125+15_1125+16delinsTT	NP_742054.1:n.1125+15_1125+16delinsTT
XM_011516185.1:c.1845+15_1845+16delinsTT	XP_011514487.1:n.1845+15_1845+16delinsTT
XM_011516186.1:c.2145+15_2145+16delinsTT	XP_011514488.1:n.2145+15_2145+16delinsTT
XM_011516185.2:c.1845+15_1845+16delinsTT	XP_011514487.1:n.1845+15_1845+16delinsTT
XM_011516186.3:c.2145+15_2145+16delinsTT	XP_011514488.1:n.2145+15_2145+16delinsTT
XM_017012195.1:c.1995+15_1995+16delinsTT	XP_016867684.1:n.1995+15_1995+16delinsTT
XM_017012196.1:c.1968+15_1968+16delinsTT	XP_016867685.1:n.1968+15_1968+16delinsTT
NM_000238.4:c.2145+15_2145+16delinsTT MANE Select	NP_000229.1:n.2145+15_2145+16delinsTT
NM_001204798.2:c.1125+15_1125+16delinsTT	NP_001191727.1:n.1125+15_1125+16delinsTT
NM_172057.3:c.1125+15_1125+16delinsTT	NP_742054.1:n.1125+15_1125+16delinsTT