Canonical Allele Identifier: CA2685601791

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950080-AGCCCCAGTGACTGCATATTCAGAAGGCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950083_150950111del , CM000669.2:g.150950083_150950111del	GRCh38
NC_000007.13:g.150647171_150647199del , CM000669.1:g.150647171_150647199del	GRCh37
NC_000007.12:g.150278104_150278132del	NCBI36
NG_008916.1:g.32818_32846del , LRG_288:g.32818_32846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1755_1783del
ENST00000684241.1:n.3231+59_3231+87del
ENST00000262186.10:c.2398+59_2398+87del MANE Select	ENSP00000262186.5:n.2398+59_2398+87del
ENST00000330883.9:c.1378+59_1378+87del	ENSP00000328531.4:n.1378+59_1378+87del
ENST00000262186.9:c.2398+59_2398+87del	ENSP00000262186.5:n.2398+59_2398+87del
ENST00000330883.8:c.1378+59_1378+87del	ENSP00000328531.4:n.1378+59_1378+87del
ENST00000430723.4:c.2109_2137del	ENSP00000387657.4:p.Ser704ValfsTer?
ENST00000461280.1:n.1744_1772del
ENST00000473610.5:n.2089_2117del
ENST00000532957.5:n.2680_2708del
NM_000238.3:c.2398+59_2398+87del , LRG_288t1:c.2398+59_2398+87del	NP_000229.1:n.2398+59_2398+87del
NM_001204798.1:c.1437_1465del	NP_001191727.1:p.Ser480ValfsTer?
NM_172056.2:c.2457_2485del , LRG_288t2:c.2457_2485del	NP_742053.1:p.Ser820ValfsTer?
NM_172057.2:c.1378+59_1378+87del , LRG_288t3:c.1378+59_1378+87del	NP_742054.1:n.1378+59_1378+87del
XM_011516185.1:c.2098+59_2098+87del	XP_011514487.1:n.2098+59_2098+87del
XM_011516186.1:c.2398+59_2398+87del	XP_011514488.1:n.2398+59_2398+87del
XM_011516185.2:c.2098+59_2098+87del	XP_011514487.1:n.2098+59_2098+87del
XM_011516186.3:c.2398+59_2398+87del	XP_011514488.1:n.2398+59_2398+87del
XM_017012195.1:c.2248+59_2248+87del	XP_016867684.1:n.2248+59_2248+87del
XM_017012196.1:c.2221+59_2221+87del	XP_016867685.1:n.2221+59_2221+87del
NM_000238.4:c.2398+59_2398+87del MANE Select	NP_000229.1:n.2398+59_2398+87del
NM_001204798.2:c.1437_1465del	NP_001191727.1:p.Ser480ValfsTer?
NM_172057.3:c.1378+59_1378+87del	NP_742054.1:n.1378+59_1378+87del