Canonical Allele Identifier: CA1139660320

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 934348
• ClinVar RCV Id: RCV001202715
• dbSNP Id: rs1801437299

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958072del , CM000669.2:g.150958072del	GRCh38
NC_000007.13:g.150655160del , CM000669.1:g.150655160del	GRCh37
NC_000007.12:g.150286093del	NCBI36
NG_008916.1:g.24856del , LRG_288:g.24856del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1737del
ENST00000262186.10:c.904del MANE Select	ENSP00000262186.5:p.His302ThrfsTer?
ENST00000262186.9:c.904del	ENSP00000262186.5:p.His302ThrfsTer?
ENST00000430723.4:c.556del	ENSP00000387657.4:p.His186ThrfsTer?
ENST00000532957.5:n.1127del
NM_000238.3:c.904del , LRG_288t1:c.904del	NP_000229.1:p.His302ThrfsTer?
NM_172056.2:c.904del , LRG_288t2:c.904del	NP_742053.1:p.His302ThrfsTer?
XM_011516185.1:c.604del	XP_011514487.1:p.His202ThrfsTer?
XM_011516186.1:c.904del	XP_011514488.1:p.His302ThrfsTer?
XM_011516185.2:c.604del	XP_011514487.1:p.His202ThrfsTer?
XM_011516186.3:c.904del	XP_011514488.1:p.His302ThrfsTer?
XM_017012195.1:c.754del	XP_016867684.1:p.His252ThrfsTer?
XM_017012196.1:c.727del	XP_016867685.1:p.His243ThrfsTer?
NM_000238.4:c.904del MANE Select	NP_000229.1:p.His302ThrfsTer?