Canonical Allele Identifier: CA2778425828

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950167_150950168insA , CM000669.2:g.150950167_150950168insA	GRCh38
NC_000007.13:g.150647255_150647256insA , CM000669.1:g.150647255_150647256insA	GRCh37
NC_000007.12:g.150278188_150278189insA	NCBI36
NG_008916.1:g.32759_32760insT , LRG_288:g.32759_32760insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1696_1697insT
ENST00000684241.1:n.3231_3231+1insT
ENST00000262186.10:c.2398_2398+1insT MANE Select	ENSP00000262186.5:n.2398_2398+1insT
ENST00000330883.9:c.1378_1378+1insT	ENSP00000328531.4:n.1378_1378+1insT
ENST00000262186.9:c.2398_2398+1insT	ENSP00000262186.5:n.2398_2398+1insT
ENST00000330883.8:c.1378_1378+1insT	ENSP00000328531.4:n.1378_1378+1insT
ENST00000430723.4:c.2050_2051insT	ENSP00000387657.4:p.Gly684ValfsTer?
ENST00000461280.1:n.1685_1686insT
ENST00000473610.5:n.2030_2031insT
ENST00000532957.5:n.2621_2622insT
NM_000238.3:c.2398_2398+1insT , LRG_288t1:c.2398_2398+1insT	NP_000229.1:n.2398_2398+1insT
NM_001204798.1:c.1378_1379insT	NP_001191727.1:p.Gly460ValfsTer?
NM_172056.2:c.2398_2399insT , LRG_288t2:c.2398_2399insT	NP_742053.1:p.Gly800ValfsTer?
NM_172057.2:c.1378_1378+1insT , LRG_288t3:c.1378_1378+1insT	NP_742054.1:n.1378_1378+1insT
XM_011516185.1:c.2098_2098+1insT	XP_011514487.1:n.2098_2098+1insT
XM_011516186.1:c.2398_2398+1insT	XP_011514488.1:n.2398_2398+1insT
XM_011516185.2:c.2098_2098+1insT	XP_011514487.1:n.2098_2098+1insT
XM_011516186.3:c.2398_2398+1insT	XP_011514488.1:n.2398_2398+1insT
XM_017012195.1:c.2248_2248+1insT	XP_016867684.1:n.2248_2248+1insT
XM_017012196.1:c.2221_2221+1insT	XP_016867685.1:n.2221_2221+1insT
NM_000238.4:c.2398_2398+1insT MANE Select	NP_000229.1:n.2398_2398+1insT
NM_001204798.2:c.1378_1379insT	NP_001191727.1:p.Gly460ValfsTer?
NM_172057.3:c.1378_1378+1insT	NP_742054.1:n.1378_1378+1insT