Canonical Allele Identifier: CA2967120577

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950234_150950235del , CM000669.2:g.150950234_150950235del	GRCh38
NC_000007.13:g.150647322_150647323del , CM000669.1:g.150647322_150647323del	GRCh37
NC_000007.12:g.150278255_150278256del	NCBI36
NG_008916.1:g.32693_32694del , LRG_288:g.32693_32694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1630_1631del
ENST00000684241.1:n.3165_3166del
ENST00000262186.10:c.2332_2333del MANE Select	ENSP00000262186.5:p.Ala778ProfsTer25
ENST00000330883.9:c.1312_1313del	ENSP00000328531.4:p.Ala438ProfsTer25
ENST00000262186.9:c.2332_2333del	ENSP00000262186.5:p.Ala778ProfsTer25
ENST00000330883.8:c.1312_1313del	ENSP00000328531.4:p.Ala438ProfsTer25
ENST00000430723.4:c.1984_1985del	ENSP00000387657.4:p.Ala662ProfsTer?
ENST00000461280.1:n.1619_1620del
ENST00000473610.5:n.1964_1965del
ENST00000532957.5:n.2555_2556del
NM_000238.3:c.2332_2333del , LRG_288t1:c.2332_2333del	NP_000229.1:p.Ala778ProfsTer25
NM_001204798.1:c.1312_1313del	NP_001191727.1:p.Ala438ProfsTer?
NM_172056.2:c.2332_2333del , LRG_288t2:c.2332_2333del	NP_742053.1:p.Ala778ProfsTer?
NM_172057.2:c.1312_1313del , LRG_288t3:c.1312_1313del	NP_742054.1:p.Ala438ProfsTer25
XM_011516185.1:c.2032_2033del	XP_011514487.1:p.Ala678ProfsTer25
XM_011516186.1:c.2332_2333del	XP_011514488.1:p.Ala778ProfsTer25
XM_011516185.2:c.2032_2033del	XP_011514487.1:p.Ala678ProfsTer25
XM_011516186.3:c.2332_2333del	XP_011514488.1:p.Ala778ProfsTer25
XM_017012195.1:c.2182_2183del	XP_016867684.1:p.Ala728ProfsTer25
XM_017012196.1:c.2155_2156del	XP_016867685.1:p.Ala719ProfsTer25
NM_000238.4:c.2332_2333del MANE Select	NP_000229.1:p.Ala778ProfsTer25
NM_001204798.2:c.1312_1313del	NP_001191727.1:p.Ala438ProfsTer?
NM_172057.3:c.1312_1313del	NP_742054.1:p.Ala438ProfsTer25