Canonical Allele Identifier: CA1752418163

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958242_150958243delinsGC , CM000669.2:g.150958242_150958243delinsGC	GRCh38
NC_000007.13:g.150655330_150655331delinsGC , CM000669.1:g.150655330_150655331delinsGC	GRCh37
NC_000007.12:g.150286263_150286264delinsGC	NCBI36
NG_008916.1:g.24684_24685delinsGC , LRG_288:g.24684_24685delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1565_1566delinsGC
ENST00000262186.10:c.732_733delinsGC MANE Select	ENSP00000262186.5:p.Ala244=
ENST00000262186.9:c.732_733delinsGC	ENSP00000262186.5:p.Ala244=
ENST00000430723.4:c.384_385delinsGC	ENSP00000387657.4:p.Ala128=
ENST00000532957.5:n.955_956delinsGC
NM_000238.3:c.732_733delinsGC , LRG_288t1:c.732_733delinsGC	NP_000229.1:p.Ala244=
NM_172056.2:c.732_733delinsGC , LRG_288t2:c.732_733delinsGC	NP_742053.1:p.Ala244=
XM_011516185.1:c.432_433delinsGC	XP_011514487.1:p.Ala144=
XM_011516186.1:c.732_733delinsGC	XP_011514488.1:p.Ala244=
XM_011516185.2:c.432_433delinsGC	XP_011514487.1:p.Ala144=
XM_011516186.3:c.732_733delinsGC	XP_011514488.1:p.Ala244=
XM_017012195.1:c.582_583delinsGC	XP_016867684.1:p.Ala194=
XM_017012196.1:c.555_556delinsGC	XP_016867685.1:p.Ala185=
NM_000238.4:c.732_733delinsGC MANE Select	NP_000229.1:p.Ala244=