Canonical Allele Identifier: CA1139770392

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958433_150958434insCCC , CM000669.2:g.150958433_150958434insCCC	GRCh38
NC_000007.13:g.150655521_150655522insCCC , CM000669.1:g.150655521_150655522insCCC	GRCh37
NC_000007.12:g.150286454_150286455insCCC	NCBI36
NG_008916.1:g.24495_24496insGGG , LRG_288:g.24495_24496insGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1376_1377insGGG
ENST00000262186.10:c.543_544insGGG MANE Select	ENSP00000262186.5:p.Arg181_Ser182insGly
ENST00000262186.9:c.543_544insGGG	ENSP00000262186.5:p.Arg181_Ser182insGly
ENST00000430723.4:c.235-40_235-39insGGG	ENSP00000387657.4:n.235-40_235-39insGGG
ENST00000532957.5:n.766_767insGGG
NM_000238.3:c.543_544insGGG , LRG_288t1:c.543_544insGGG	NP_000229.1:p.Arg181_Ser182insGly
NM_172056.2:c.543_544insGGG , LRG_288t2:c.543_544insGGG	NP_742053.1:p.Arg181_Ser182insGly
XM_011516185.1:c.243_244insGGG	XP_011514487.1:p.Arg81_Ser82insGly
XM_011516186.1:c.543_544insGGG	XP_011514488.1:p.Arg181_Ser182insGly
XM_011516185.2:c.243_244insGGG	XP_011514487.1:p.Arg81_Ser82insGly
XM_011516186.3:c.543_544insGGG	XP_011514488.1:p.Arg181_Ser182insGly
XM_017012195.1:c.393_394insGGG	XP_016867684.1:p.Arg131_Ser132insGly
XM_017012196.1:c.366_367insGGG	XP_016867685.1:p.Arg122_Ser123insGly
NM_000238.4:c.543_544insGGG MANE Select	NP_000229.1:p.Arg181_Ser182insGly