Canonical Allele Identifier: CA2563154916

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959683_150959684insG , CM000669.2:g.150959683_150959684insG	GRCh38
NC_000007.13:g.150656771_150656772insG , CM000669.1:g.150656771_150656772insG	GRCh37
NC_000007.12:g.150287704_150287705insG	NCBI36
NG_008916.1:g.23243_23244insC , LRG_288:g.23243_23244insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1193_1194insC
ENST00000262186.10:c.360_361insC MANE Select	ENSP00000262186.5:p.Ala121ArgfsTer24
ENST00000262186.9:c.360_361insC	ENSP00000262186.5:p.Ala121ArgfsTer24
ENST00000430723.4:c.183_184insC	ENSP00000387657.4:p.Ala62ArgfsTer?
ENST00000532957.5:n.583_584insC
NM_000238.3:c.360_361insC , LRG_288t1:c.360_361insC	NP_000229.1:p.Ala121ArgfsTer24
NM_172056.2:c.360_361insC , LRG_288t2:c.360_361insC	NP_742053.1:p.Ala121ArgfsTer24
XM_011516185.1:c.60_61insC	XP_011514487.1:p.Ala21ArgfsTer24
XM_011516186.1:c.360_361insC	XP_011514488.1:p.Ala121ArgfsTer24
XM_011516185.2:c.60_61insC	XP_011514487.1:p.Ala21ArgfsTer24
XM_011516186.3:c.360_361insC	XP_011514488.1:p.Ala121ArgfsTer24
XM_017012195.1:c.210_211insC	XP_016867684.1:p.Ala71ArgfsTer24
XM_017012196.1:c.183_184insC	XP_016867685.1:p.Ala62ArgfsTer24
NM_000238.4:c.360_361insC MANE Select	NP_000229.1:p.Ala121ArgfsTer24