Canonical Allele Identifier: CA2580617920

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2579645
• ClinVar RCV Id: RCV003328080

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957327del , CM000669.2:g.150957327del	GRCh38
NC_000007.13:g.150654415del , CM000669.1:g.150654415del	GRCh37
NC_000007.12:g.150285348del	NCBI36
NG_008916.1:g.25601del , LRG_288:g.25601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1926del
ENST00000262186.10:c.1093del MANE Select	ENSP00000262186.5:p.Glu365SerfsTer?
ENST00000262186.9:c.1093del	ENSP00000262186.5:p.Glu365SerfsTer?
ENST00000430723.4:c.745del	ENSP00000387657.4:p.Glu249SerfsTer?
ENST00000532957.5:n.1316del
NM_000238.3:c.1093del , LRG_288t1:c.1093del	NP_000229.1:p.Glu365SerfsTer?
NM_172056.2:c.1093del , LRG_288t2:c.1093del	NP_742053.1:p.Glu365SerfsTer?
XM_011516185.1:c.793del	XP_011514487.1:p.Glu265SerfsTer?
XM_011516186.1:c.1093del	XP_011514488.1:p.Glu365SerfsTer?
XM_011516185.2:c.793del	XP_011514487.1:p.Glu265SerfsTer?
XM_011516186.3:c.1093del	XP_011514488.1:p.Glu365SerfsTer?
XM_017012195.1:c.943del	XP_016867684.1:p.Glu315SerfsTer?
XM_017012196.1:c.916del	XP_016867685.1:p.Glu306SerfsTer?
NM_000238.4:c.1093del MANE Select	NP_000229.1:p.Glu365SerfsTer?