Canonical Allele Identifier: CA2695208721

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2735100
• ClinVar RCV Id: RCV003531548

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951518del , CM000669.2:g.150951518del	GRCh38
NC_000007.13:g.150648606del , CM000669.1:g.150648606del	GRCh37
NC_000007.12:g.150279539del	NCBI36
NG_008916.1:g.31411del , LRG_288:g.31411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1175del
ENST00000684241.1:n.2710del
ENST00000262186.10:c.1877del MANE Select	ENSP00000262186.5:p.Gly626AlafsTer?
ENST00000330883.9:c.857del	ENSP00000328531.4:p.Gly286AlafsTer?
ENST00000262186.9:c.1877del	ENSP00000262186.5:p.Gly626AlafsTer?
ENST00000330883.8:c.857del	ENSP00000328531.4:p.Gly286AlafsTer?
ENST00000430723.4:c.1529del	ENSP00000387657.4:p.Gly510AlafsTer?
ENST00000461280.1:n.1164del
ENST00000473610.5:n.1182del
ENST00000532957.5:n.2100del
NM_000238.3:c.1877del , LRG_288t1:c.1877del	NP_000229.1:p.Gly626AlafsTer?
NM_001204798.1:c.857del	NP_001191727.1:p.Gly286AlafsTer?
NM_172056.2:c.1877del , LRG_288t2:c.1877del	NP_742053.1:p.Gly626AlafsTer?
NM_172057.2:c.857del , LRG_288t3:c.857del	NP_742054.1:p.Gly286AlafsTer?
XM_011516185.1:c.1577del	XP_011514487.1:p.Gly526AlafsTer?
XM_011516186.1:c.1877del	XP_011514488.1:p.Gly626AlafsTer?
XM_011516185.2:c.1577del	XP_011514487.1:p.Gly526AlafsTer?
XM_011516186.3:c.1877del	XP_011514488.1:p.Gly626AlafsTer?
XM_017012195.1:c.1727del	XP_016867684.1:p.Gly576AlafsTer?
XM_017012196.1:c.1700del	XP_016867685.1:p.Gly567AlafsTer?
NM_000238.4:c.1877del MANE Select	NP_000229.1:p.Gly626AlafsTer?
NM_001204798.2:c.857del	NP_001191727.1:p.Gly286AlafsTer?
NM_172057.3:c.857del	NP_742054.1:p.Gly286AlafsTer?