Canonical Allele Identifier: CA2778425830

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950178del , CM000669.2:g.150950178del	GRCh38
NC_000007.13:g.150647266del , CM000669.1:g.150647266del	GRCh37
NC_000007.12:g.150278199del	NCBI36
NG_008916.1:g.32750del , LRG_288:g.32750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1687del
ENST00000684241.1:n.3222del
ENST00000262186.10:c.2389del MANE Select	ENSP00000262186.5:p.Ala797ProfsTer13
ENST00000330883.9:c.1369del	ENSP00000328531.4:p.Ala457ProfsTer13
ENST00000262186.9:c.2389del	ENSP00000262186.5:p.Ala797ProfsTer13
ENST00000330883.8:c.1369del	ENSP00000328531.4:p.Ala457ProfsTer13
ENST00000430723.4:c.2041del	ENSP00000387657.4:p.Ala681ProfsTer26
ENST00000461280.1:n.1676del
ENST00000473610.5:n.2021del
ENST00000532957.5:n.2612del
NM_000238.3:c.2389del , LRG_288t1:c.2389del	NP_000229.1:p.Ala797ProfsTer13
NM_001204798.1:c.1369del	NP_001191727.1:p.Ala457ProfsTer26
NM_172056.2:c.2389del , LRG_288t2:c.2389del	NP_742053.1:p.Ala797ProfsTer26
NM_172057.2:c.1369del , LRG_288t3:c.1369del	NP_742054.1:p.Ala457ProfsTer13
XM_011516185.1:c.2089del	XP_011514487.1:p.Ala697ProfsTer13
XM_011516186.1:c.2389del	XP_011514488.1:p.Ala797ProfsTer13
XM_011516185.2:c.2089del	XP_011514487.1:p.Ala697ProfsTer13
XM_011516186.3:c.2389del	XP_011514488.1:p.Ala797ProfsTer13
XM_017012195.1:c.2239del	XP_016867684.1:p.Ala747ProfsTer13
XM_017012196.1:c.2212del	XP_016867685.1:p.Ala738ProfsTer13
NM_000238.4:c.2389del MANE Select	NP_000229.1:p.Ala797ProfsTer13
NM_001204798.2:c.1369del	NP_001191727.1:p.Ala457ProfsTer26
NM_172057.3:c.1369del	NP_742054.1:p.Ala457ProfsTer13