Canonical Allele Identifier: CA2739278689

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2919924
• ClinVar RCV Id: RCV003649142

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948445_150948446delinsGG , CM000669.2:g.150948445_150948446delinsGG	GRCh38
NC_000007.13:g.150645533_150645534delinsGG , CM000669.1:g.150645533_150645534delinsGG	GRCh37
NC_000007.12:g.150276466_150276467delinsGG	NCBI36
NG_008916.1:g.34481_34482delinsCC , LRG_288:g.34481_34482delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3523_3524delinsCC
ENST00000262186.10:c.2690_2691delinsCC MANE Select	ENSP00000262186.5:p.Lys897Thr
ENST00000330883.9:c.1670_1671delinsCC	ENSP00000328531.4:p.Lys557Thr
ENST00000262186.9:c.2690_2691delinsCC	ENSP00000262186.5:p.Lys897Thr
ENST00000330883.8:c.1670_1671delinsCC	ENSP00000328531.4:p.Lys557Thr
NM_000238.3:c.2690_2691delinsCC , LRG_288t1:c.2690_2691delinsCC	NP_000229.1:p.Lys897Thr
NM_172057.2:c.1670_1671delinsCC , LRG_288t3:c.1670_1671delinsCC	NP_742054.1:p.Lys557Thr
XM_011516185.1:c.2390_2391delinsCC	XP_011514487.1:p.Lys797Thr
XM_011516186.1:c.2690_2691delinsCC	XP_011514488.1:p.Lys897Thr
XM_011516185.2:c.2390_2391delinsCC	XP_011514487.1:p.Lys797Thr
XM_011516186.3:c.2690_2691delinsCC	XP_011514488.1:p.Lys897Thr
XM_017012195.1:c.2540_2541delinsCC	XP_016867684.1:p.Lys847Thr
XM_017012196.1:c.2513_2514delinsCC	XP_016867685.1:p.Lys838Thr
NM_000238.4:c.2690_2691delinsCC MANE Select	NP_000229.1:p.Lys897Thr
NM_172057.3:c.1670_1671delinsCC	NP_742054.1:p.Lys557Thr