Canonical Allele Identifier: CA1752420038

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959682_150959683delinsGC , CM000669.2:g.150959682_150959683delinsGC	GRCh38
NC_000007.13:g.150656770_150656771delinsGC , CM000669.1:g.150656770_150656771delinsGC	GRCh37
NC_000007.12:g.150287703_150287704delinsGC	NCBI36
NG_008916.1:g.23244_23245delinsGC , LRG_288:g.23244_23245delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1194_1195delinsGC
ENST00000262186.10:c.361_362delinsGC MANE Select	ENSP00000262186.5:p.Ala121=
ENST00000262186.9:c.361_362delinsGC	ENSP00000262186.5:p.Ala121=
ENST00000430723.4:c.184_185delinsGC	ENSP00000387657.4:p.Ala62=
ENST00000532957.5:n.584_585delinsGC
NM_000238.3:c.361_362delinsGC , LRG_288t1:c.361_362delinsGC	NP_000229.1:p.Ala121=
NM_172056.2:c.361_362delinsGC , LRG_288t2:c.361_362delinsGC	NP_742053.1:p.Ala121=
XM_011516185.1:c.61_62delinsGC	XP_011514487.1:p.Ala21=
XM_011516186.1:c.361_362delinsGC	XP_011514488.1:p.Ala121=
XM_011516185.2:c.61_62delinsGC	XP_011514487.1:p.Ala21=
XM_011516186.3:c.361_362delinsGC	XP_011514488.1:p.Ala121=
XM_017012195.1:c.211_212delinsGC	XP_016867684.1:p.Ala71=
XM_017012196.1:c.184_185delinsGC	XP_016867685.1:p.Ala62=
NM_000238.4:c.361_362delinsGC MANE Select	NP_000229.1:p.Ala121=