Canonical Allele Identifier: CA2580077789

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1790360
• ClinVar RCV Id: RCV002457824

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950190dup , CM000669.2:g.150950190dup	GRCh38
NC_000007.13:g.150647278dup , CM000669.1:g.150647278dup	GRCh37
NC_000007.12:g.150278211dup	NCBI36
NG_008916.1:g.32737dup , LRG_288:g.32737dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1674dup
ENST00000684241.1:n.3209dup
ENST00000262186.10:c.2376dup MANE Select	ENSP00000262186.5:p.Asp793ArgfsTer11
ENST00000330883.9:c.1356dup	ENSP00000328531.4:p.Asp453ArgfsTer11
ENST00000262186.9:c.2376dup	ENSP00000262186.5:p.Asp793ArgfsTer11
ENST00000330883.8:c.1356dup	ENSP00000328531.4:p.Asp453ArgfsTer11
ENST00000430723.4:c.2028dup	ENSP00000387657.4:p.Asp677ArgfsTer?
ENST00000461280.1:n.1663dup
ENST00000473610.5:n.2008dup
ENST00000532957.5:n.2599dup
NM_000238.3:c.2376dup , LRG_288t1:c.2376dup	NP_000229.1:p.Asp793ArgfsTer11
NM_001204798.1:c.1356dup	NP_001191727.1:p.Asp453ArgfsTer?
NM_172056.2:c.2376dup , LRG_288t2:c.2376dup	NP_742053.1:p.Asp793ArgfsTer?
NM_172057.2:c.1356dup , LRG_288t3:c.1356dup	NP_742054.1:p.Asp453ArgfsTer11
XM_011516185.1:c.2076dup	XP_011514487.1:p.Asp693ArgfsTer11
XM_011516186.1:c.2376dup	XP_011514488.1:p.Asp793ArgfsTer11
XM_011516185.2:c.2076dup	XP_011514487.1:p.Asp693ArgfsTer11
XM_011516186.3:c.2376dup	XP_011514488.1:p.Asp793ArgfsTer11
XM_017012195.1:c.2226dup	XP_016867684.1:p.Asp743ArgfsTer11
XM_017012196.1:c.2199dup	XP_016867685.1:p.Asp734ArgfsTer11
NM_000238.4:c.2376dup MANE Select	NP_000229.1:p.Asp793ArgfsTer11
NM_001204798.2:c.1356dup	NP_001191727.1:p.Asp453ArgfsTer?
NM_172057.3:c.1356dup	NP_742054.1:p.Asp453ArgfsTer11