Canonical Allele Identifier: CA1752431250

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948445_150948446delinsCT , CM000669.2:g.150948445_150948446delinsCT	GRCh38
NC_000007.13:g.150645533_150645534delinsCT , CM000669.1:g.150645533_150645534delinsCT	GRCh37
NC_000007.12:g.150276466_150276467delinsCT	NCBI36
NG_008916.1:g.34481_34482delinsAG , LRG_288:g.34481_34482delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3523_3524delinsAG
ENST00000262186.10:c.2690_2691delinsAG MANE Select	ENSP00000262186.5:p.Lys897=
ENST00000330883.9:c.1670_1671delinsAG	ENSP00000328531.4:p.Lys557=
ENST00000262186.9:c.2690_2691delinsAG	ENSP00000262186.5:p.Lys897=
ENST00000330883.8:c.1670_1671delinsAG	ENSP00000328531.4:p.Lys557=
NM_000238.3:c.2690_2691delinsAG , LRG_288t1:c.2690_2691delinsAG	NP_000229.1:p.Lys897=
NM_172057.2:c.1670_1671delinsAG , LRG_288t3:c.1670_1671delinsAG	NP_742054.1:p.Lys557=
XM_011516185.1:c.2390_2391delinsAG	XP_011514487.1:p.Lys797=
XM_011516186.1:c.2690_2691delinsAG	XP_011514488.1:p.Lys897=
XM_011516185.2:c.2390_2391delinsAG	XP_011514487.1:p.Lys797=
XM_011516186.3:c.2690_2691delinsAG	XP_011514488.1:p.Lys897=
XM_017012195.1:c.2540_2541delinsAG	XP_016867684.1:p.Lys847=
XM_017012196.1:c.2513_2514delinsAG	XP_016867685.1:p.Lys838=
NM_000238.4:c.2690_2691delinsAG MANE Select	NP_000229.1:p.Lys897=
NM_172057.3:c.1670_1671delinsAG	NP_742054.1:p.Lys557=