Canonical Allele Identifier: CA2580077793

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2071298
• ClinVar RCV Id: RCV002975472

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950408dup , CM000669.2:g.150950408dup	GRCh38
NC_000007.13:g.150647496dup , CM000669.1:g.150647496dup	GRCh37
NC_000007.12:g.150278429dup	NCBI36
NG_008916.1:g.32520dup , LRG_288:g.32520dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1457dup
ENST00000684241.1:n.2992dup
ENST00000262186.10:c.2159dup MANE Select	ENSP00000262186.5:p.Glu722Ter
ENST00000330883.9:c.1139dup	ENSP00000328531.4:p.Glu382Ter
ENST00000262186.9:c.2159dup	ENSP00000262186.5:p.Glu722Ter
ENST00000330883.8:c.1139dup	ENSP00000328531.4:p.Glu382Ter
ENST00000430723.4:c.1811dup	ENSP00000387657.4:p.Glu606Ter
ENST00000461280.1:n.1446dup
ENST00000473610.5:n.1791dup
ENST00000532957.5:n.2382dup
NM_000238.3:c.2159dup , LRG_288t1:c.2159dup	NP_000229.1:p.Glu722Ter
NM_001204798.1:c.1139dup	NP_001191727.1:p.Glu382Ter
NM_172056.2:c.2159dup , LRG_288t2:c.2159dup	NP_742053.1:p.Glu722Ter
NM_172057.2:c.1139dup , LRG_288t3:c.1139dup	NP_742054.1:p.Glu382Ter
XM_011516185.1:c.1859dup	XP_011514487.1:p.Glu622Ter
XM_011516186.1:c.2159dup	XP_011514488.1:p.Glu722Ter
XM_011516185.2:c.1859dup	XP_011514487.1:p.Glu622Ter
XM_011516186.3:c.2159dup	XP_011514488.1:p.Glu722Ter
XM_017012195.1:c.2009dup	XP_016867684.1:p.Glu672Ter
XM_017012196.1:c.1982dup	XP_016867685.1:p.Glu663Ter
NM_000238.4:c.2159dup MANE Select	NP_000229.1:p.Glu722Ter
NM_001204798.2:c.1139dup	NP_001191727.1:p.Glu382Ter
NM_172057.3:c.1139dup	NP_742054.1:p.Glu382Ter