Canonical Allele Identifier: CA1752433669

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801094723

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950375dup , CM000669.2:g.150950375dup	GRCh38
NC_000007.13:g.150647463dup , CM000669.1:g.150647463dup	GRCh37
NC_000007.12:g.150278396dup	NCBI36
NG_008916.1:g.32552dup , LRG_288:g.32552dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1489dup
ENST00000684241.1:n.3024dup
ENST00000262186.10:c.2191dup MANE Select	ENSP00000262186.5:p.His731ProfsTer?
ENST00000330883.9:c.1171dup	ENSP00000328531.4:p.His391ProfsTer?
ENST00000262186.9:c.2191dup	ENSP00000262186.5:p.His731ProfsTer?
ENST00000330883.8:c.1171dup	ENSP00000328531.4:p.His391ProfsTer?
ENST00000430723.4:c.1843dup	ENSP00000387657.4:p.His615ProfsTer?
ENST00000461280.1:n.1478dup
ENST00000473610.5:n.1823dup
ENST00000532957.5:n.2414dup
NM_000238.3:c.2191dup , LRG_288t1:c.2191dup	NP_000229.1:p.His731ProfsTer?
NM_001204798.1:c.1171dup	NP_001191727.1:p.His391ProfsTer?
NM_172056.2:c.2191dup , LRG_288t2:c.2191dup	NP_742053.1:p.His731ProfsTer?
NM_172057.2:c.1171dup , LRG_288t3:c.1171dup	NP_742054.1:p.His391ProfsTer?
XM_011516185.1:c.1891dup	XP_011514487.1:p.His631ProfsTer?
XM_011516186.1:c.2191dup	XP_011514488.1:p.His731ProfsTer?
XM_011516185.2:c.1891dup	XP_011514487.1:p.His631ProfsTer?
XM_011516186.3:c.2191dup	XP_011514488.1:p.His731ProfsTer?
XM_017012195.1:c.2041dup	XP_016867684.1:p.His681ProfsTer?
XM_017012196.1:c.2014dup	XP_016867685.1:p.His672ProfsTer?
NM_000238.4:c.2191dup MANE Select	NP_000229.1:p.His731ProfsTer?
NM_001204798.2:c.1171dup	NP_001191727.1:p.His391ProfsTer?
NM_172057.3:c.1171dup	NP_742054.1:p.His391ProfsTer?