Canonical Allele Identifier: CA1752441090

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974863_150974864delinsCA , CM000669.2:g.150974863_150974864delinsCA	GRCh38
NC_000007.13:g.150671951_150671952delinsCA , CM000669.1:g.150671951_150671952delinsCA	GRCh37
NC_000007.12:g.150302884_150302885delinsCA	NCBI36
NG_008916.1:g.8063_8064delinsTG , LRG_288:g.8063_8064delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.154_155delinsTG MANE Select	ENSP00000262186.5:p.Cys52=
ENST00000262186.9:c.154_155delinsTG	ENSP00000262186.5:p.Cys52=
ENST00000430723.4:c.-24_-23delinsTG	ENSP00000387657.4:n.-24_-23delinsTG
ENST00000532957.5:n.377_378delinsTG
NM_000238.3:c.154_155delinsTG , LRG_288t1:c.154_155delinsTG	NP_000229.1:p.Cys52=
NM_172056.2:c.154_155delinsTG , LRG_288t2:c.154_155delinsTG	NP_742053.1:p.Cys52=
XM_011516186.1:c.154_155delinsTG	XP_011514488.1:p.Cys52=
XM_011516186.3:c.154_155delinsTG	XP_011514488.1:p.Cys52=
XM_017012196.1:c.-24_-23delinsTG	XP_016867685.1:n.-24_-23delinsTG
NM_000238.4:c.154_155delinsTG MANE Select	NP_000229.1:p.Cys52=