Canonical Allele Identifier: CA2579062593

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948465_150948466insCTT , CM000669.2:g.150948465_150948466insCTT	GRCh38
NC_000007.13:g.150645553_150645554insCTT , CM000669.1:g.150645553_150645554insCTT	GRCh37
NC_000007.12:g.150276486_150276487insCTT	NCBI36
NG_008916.1:g.34461_34462insAAG , LRG_288:g.34461_34462insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3503_3504insAAG
ENST00000262186.10:c.2670_2671insAAG MANE Select	ENSP00000262186.5:p.Ser890_Phe891insLys
ENST00000330883.9:c.1650_1651insAAG	ENSP00000328531.4:p.Ser550_Phe551insLys
ENST00000262186.9:c.2670_2671insAAG	ENSP00000262186.5:p.Ser890_Phe891insLys
ENST00000330883.8:c.1650_1651insAAG	ENSP00000328531.4:p.Ser550_Phe551insLys
NM_000238.3:c.2670_2671insAAG , LRG_288t1:c.2670_2671insAAG	NP_000229.1:p.Ser890_Phe891insLys
NM_172057.2:c.1650_1651insAAG , LRG_288t3:c.1650_1651insAAG	NP_742054.1:p.Ser550_Phe551insLys
XM_011516185.1:c.2370_2371insAAG	XP_011514487.1:p.Ser790_Phe791insLys
XM_011516186.1:c.2670_2671insAAG	XP_011514488.1:p.Ser890_Phe891insLys
XM_011516185.2:c.2370_2371insAAG	XP_011514487.1:p.Ser790_Phe791insLys
XM_011516186.3:c.2670_2671insAAG	XP_011514488.1:p.Ser890_Phe891insLys
XM_017012195.1:c.2520_2521insAAG	XP_016867684.1:p.Ser840_Phe841insLys
XM_017012196.1:c.2493_2494insAAG	XP_016867685.1:p.Ser831_Phe832insLys
NM_000238.4:c.2670_2671insAAG MANE Select	NP_000229.1:p.Ser890_Phe891insLys
NM_172057.3:c.1650_1651insAAG	NP_742054.1:p.Ser550_Phe551insLys