Canonical Allele Identifier: CA1752431235

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948444_150948446delinsCCT , CM000669.2:g.150948444_150948446delinsCCT	GRCh38
NC_000007.13:g.150645532_150645534delinsCCT , CM000669.1:g.150645532_150645534delinsCCT	GRCh37
NC_000007.12:g.150276465_150276467delinsCCT	NCBI36
NG_008916.1:g.34481_34483delinsAGG , LRG_288:g.34481_34483delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3523_3525delinsAGG
ENST00000262186.10:c.2690_2692delinsAGG MANE Select	ENSP00000262186.5:p.Lys897=
ENST00000330883.9:c.1670_1672delinsAGG	ENSP00000328531.4:p.Lys557=
ENST00000262186.9:c.2690_2692delinsAGG	ENSP00000262186.5:p.Lys897=
ENST00000330883.8:c.1670_1672delinsAGG	ENSP00000328531.4:p.Lys557=
NM_000238.3:c.2690_2692delinsAGG , LRG_288t1:c.2690_2692delinsAGG	NP_000229.1:p.Lys897=
NM_172057.2:c.1670_1672delinsAGG , LRG_288t3:c.1670_1672delinsAGG	NP_742054.1:p.Lys557=
XM_011516185.1:c.2390_2392delinsAGG	XP_011514487.1:p.Lys797=
XM_011516186.1:c.2690_2692delinsAGG	XP_011514488.1:p.Lys897=
XM_011516185.2:c.2390_2392delinsAGG	XP_011514487.1:p.Lys797=
XM_011516186.3:c.2690_2692delinsAGG	XP_011514488.1:p.Lys897=
XM_017012195.1:c.2540_2542delinsAGG	XP_016867684.1:p.Lys847=
XM_017012196.1:c.2513_2515delinsAGG	XP_016867685.1:p.Lys838=
NM_000238.4:c.2690_2692delinsAGG MANE Select	NP_000229.1:p.Lys897=
NM_172057.3:c.1670_1672delinsAGG	NP_742054.1:p.Lys557=