Canonical Allele Identifier: CA2580077779

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1708604
• ClinVar RCV Id: RCV002290913 ; RCV002427757 ; RCV004005590

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948466_150948468delinsCTTGCG , CM000669.2:g.150948466_150948468delinsCTTGCG	GRCh38
NC_000007.13:g.150645554_150645556delinsCTTGCG , CM000669.1:g.150645554_150645556delinsCTTGCG	GRCh37
NC_000007.12:g.150276487_150276489delinsCTTGCG	NCBI36
NG_008916.1:g.34459_34461delinsCGCAAG , LRG_288:g.34459_34461delinsCGCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3501_3503delinsCGCAAG
ENST00000262186.10:c.2668_2670delinsCGCAAG MANE Select	ENSP00000262186.5:p.Ser890delinsArgLys
ENST00000330883.9:c.1648_1650delinsCGCAAG	ENSP00000328531.4:p.Ser550delinsArgLys
ENST00000262186.9:c.2668_2670delinsCGCAAG	ENSP00000262186.5:p.Ser890delinsArgLys
ENST00000330883.8:c.1648_1650delinsCGCAAG	ENSP00000328531.4:p.Ser550delinsArgLys
NM_000238.3:c.2668_2670delinsCGCAAG , LRG_288t1:c.2668_2670delinsCGCAAG	NP_000229.1:p.Ser890delinsArgLys
NM_172057.2:c.1648_1650delinsCGCAAG , LRG_288t3:c.1648_1650delinsCGCAAG	NP_742054.1:p.Ser550delinsArgLys
XM_011516185.1:c.2368_2370delinsCGCAAG	XP_011514487.1:p.Ser790delinsArgLys
XM_011516186.1:c.2668_2670delinsCGCAAG	XP_011514488.1:p.Ser890delinsArgLys
XM_011516185.2:c.2368_2370delinsCGCAAG	XP_011514487.1:p.Ser790delinsArgLys
XM_011516186.3:c.2668_2670delinsCGCAAG	XP_011514488.1:p.Ser890delinsArgLys
XM_017012195.1:c.2518_2520delinsCGCAAG	XP_016867684.1:p.Ser840delinsArgLys
XM_017012196.1:c.2491_2493delinsCGCAAG	XP_016867685.1:p.Ser831delinsArgLys
NM_000238.4:c.2668_2670delinsCGCAAG MANE Select	NP_000229.1:p.Ser890delinsArgLys
NM_172057.3:c.1648_1650delinsCGCAAG	NP_742054.1:p.Ser550delinsArgLys