Canonical Allele Identifier: CA1752410314

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951666_150951667delinsTG , CM000669.2:g.150951666_150951667delinsTG	GRCh38
NC_000007.13:g.150648754_150648755delinsTG , CM000669.1:g.150648754_150648755delinsTG	GRCh37
NC_000007.12:g.150279687_150279688delinsTG	NCBI36
NG_008916.1:g.31260_31261delinsCA , LRG_288:g.31260_31261delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1024_1025delinsCA
ENST00000684241.1:n.2559_2560delinsCA
ENST00000262186.10:c.1726_1727delinsCA MANE Select	ENSP00000262186.5:p.Gln576=
ENST00000330883.9:c.706_707delinsCA	ENSP00000328531.4:p.Gln236=
ENST00000262186.9:c.1726_1727delinsCA	ENSP00000262186.5:p.Gln576=
ENST00000330883.8:c.706_707delinsCA	ENSP00000328531.4:p.Gln236=
ENST00000430723.4:c.1378_1379delinsCA	ENSP00000387657.4:p.Gln460=
ENST00000461280.1:n.1013_1014delinsCA
ENST00000473610.5:n.1031_1032delinsCA
ENST00000532957.5:n.1949_1950delinsCA
NM_000238.3:c.1726_1727delinsCA , LRG_288t1:c.1726_1727delinsCA	NP_000229.1:p.Gln576=
NM_001204798.1:c.706_707delinsCA	NP_001191727.1:p.Gln236=
NM_172056.2:c.1726_1727delinsCA , LRG_288t2:c.1726_1727delinsCA	NP_742053.1:p.Gln576=
NM_172057.2:c.706_707delinsCA , LRG_288t3:c.706_707delinsCA	NP_742054.1:p.Gln236=
XM_011516185.1:c.1426_1427delinsCA	XP_011514487.1:p.Gln476=
XM_011516186.1:c.1726_1727delinsCA	XP_011514488.1:p.Gln576=
XM_011516185.2:c.1426_1427delinsCA	XP_011514487.1:p.Gln476=
XM_011516186.3:c.1726_1727delinsCA	XP_011514488.1:p.Gln576=
XM_017012195.1:c.1576_1577delinsCA	XP_016867684.1:p.Gln526=
XM_017012196.1:c.1549_1550delinsCA	XP_016867685.1:p.Gln517=
NM_000238.4:c.1726_1727delinsCA MANE Select	NP_000229.1:p.Gln576=
NM_001204798.2:c.706_707delinsCA	NP_001191727.1:p.Gln236=
NM_172057.3:c.706_707delinsCA	NP_742054.1:p.Gln236=