Canonical Allele Identifier: CA1752418356

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958296_150958297delinsGC , CM000669.2:g.150958296_150958297delinsGC	GRCh38
NC_000007.13:g.150655384_150655385delinsGC , CM000669.1:g.150655384_150655385delinsGC	GRCh37
NC_000007.12:g.150286317_150286318delinsGC	NCBI36
NG_008916.1:g.24630_24631delinsGC , LRG_288:g.24630_24631delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1511_1512delinsGC
ENST00000262186.10:c.678_679delinsGC MANE Select	ENSP00000262186.5:p.Gly226=
ENST00000262186.9:c.678_679delinsGC	ENSP00000262186.5:p.Gly226=
ENST00000430723.4:c.330_331delinsGC	ENSP00000387657.4:p.Gly110=
ENST00000532957.5:n.901_902delinsGC
NM_000238.3:c.678_679delinsGC , LRG_288t1:c.678_679delinsGC	NP_000229.1:p.Gly226=
NM_172056.2:c.678_679delinsGC , LRG_288t2:c.678_679delinsGC	NP_742053.1:p.Gly226=
XM_011516185.1:c.378_379delinsGC	XP_011514487.1:p.Gly126=
XM_011516186.1:c.678_679delinsGC	XP_011514488.1:p.Gly226=
XM_011516185.2:c.378_379delinsGC	XP_011514487.1:p.Gly126=
XM_011516186.3:c.678_679delinsGC	XP_011514488.1:p.Gly226=
XM_017012195.1:c.528_529delinsGC	XP_016867684.1:p.Gly176=
XM_017012196.1:c.501_502delinsGC	XP_016867685.1:p.Gly167=
NM_000238.4:c.678_679delinsGC MANE Select	NP_000229.1:p.Gly226=