Canonical Allele Identifier: CA1752461242

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974549_150974551delinsAGG , CM000669.2:g.150974549_150974551delinsAGG	GRCh38
NC_000007.13:g.150671637_150671639delinsAGG , CM000669.1:g.150671637_150671639delinsAGG	GRCh37
NC_000007.12:g.150302570_150302572delinsAGG	NCBI36
NG_008916.1:g.8376_8378delinsCCT , LRG_288:g.8376_8378delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+160_307+162delinsCCT MANE Select	ENSP00000262186.5:n.307+160_307+162delinsCCT
ENST00000262186.9:c.307+160_307+162delinsCCT	ENSP00000262186.5:n.307+160_307+162delinsCCT
ENST00000430723.4:c.130+160_130+162delinsCCT	ENSP00000387657.4:n.130+160_130+162delinsCCT
ENST00000532957.5:n.530+160_530+162delinsCCT
NM_000238.3:c.307+160_307+162delinsCCT , LRG_288t1:c.307+160_307+162delinsCCT	NP_000229.1:n.307+160_307+162delinsCCT
NM_172056.2:c.307+160_307+162delinsCCT , LRG_288t2:c.307+160_307+162delinsCCT	NP_742053.1:n.307+160_307+162delinsCCT
XM_011516186.1:c.307+160_307+162delinsCCT	XP_011514488.1:n.307+160_307+162delinsCCT
XM_011516186.3:c.307+160_307+162delinsCCT	XP_011514488.1:n.307+160_307+162delinsCCT
XM_017012196.1:c.130+160_130+162delinsCCT	XP_016867685.1:n.130+160_130+162delinsCCT
NM_000238.4:c.307+160_307+162delinsCCT MANE Select	NP_000229.1:n.307+160_307+162delinsCCT