Canonical Allele Identifier: CA2685602895

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955374-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955376_150955378del , CM000669.2:g.150955376_150955378del	GRCh38
NC_000007.13:g.150652464_150652466del , CM000669.1:g.150652464_150652466del	GRCh37
NC_000007.12:g.150283397_150283399del	NCBI36
NG_008916.1:g.27550_27552del , LRG_288:g.27550_27552del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.426+19_426+21del
ENST00000684241.1:n.1961+1914_1961+1916del
ENST00000262186.10:c.1128+1914_1128+1916del MANE Select	ENSP00000262186.5:n.1128+1914_1128+1916de...
ENST00000330883.9:c.108+19_108+21del	ENSP00000328531.4:n.108+19_108+21del
ENST00000262186.9:c.1128+1914_1128+1916del	ENSP00000262186.5:n.1128+1914_1128+1916de...
ENST00000330883.8:c.108+19_108+21del	ENSP00000328531.4:n.108+19_108+21del
ENST00000430723.4:c.780+1914_780+1916del	ENSP00000387657.4:n.780+1914_780+1916del
ENST00000461280.1:n.415+19_415+21del
ENST00000473610.5:n.433+19_433+21del
ENST00000532957.5:n.1351+1914_1351+1916del
NM_000238.3:c.1128+1914_1128+1916del , LRG_288t1:c.1128+1914_1128+1916del	NP_000229.1:n.1128+1914_1128+1916del
NM_001204798.1:c.108+19_108+21del	NP_001191727.1:n.108+19_108+21del
NM_172056.2:c.1128+1914_1128+1916del , LRG_288t2:c.1128+1914_1128+1916del	NP_742053.1:n.1128+1914_1128+1916del
NM_172057.2:c.108+19_108+21del , LRG_288t3:c.108+19_108+21del	NP_742054.1:n.108+19_108+21del
XM_011516185.1:c.828+1914_828+1916del	XP_011514487.1:n.828+1914_828+1916del
XM_011516186.1:c.1128+1914_1128+1916del	XP_011514488.1:n.1128+1914_1128+1916del
XM_011516185.2:c.828+1914_828+1916del	XP_011514487.1:n.828+1914_828+1916del
XM_011516186.3:c.1128+1914_1128+1916del	XP_011514488.1:n.1128+1914_1128+1916del
XM_017012195.1:c.978+1914_978+1916del	XP_016867684.1:n.978+1914_978+1916del
XM_017012196.1:c.951+1914_951+1916del	XP_016867685.1:n.951+1914_951+1916del
NM_000238.4:c.1128+1914_1128+1916del MANE Select	NP_000229.1:n.1128+1914_1128+1916del
NM_001204798.2:c.108+19_108+21del	NP_001191727.1:n.108+19_108+21del
NM_172057.3:c.108+19_108+21del	NP_742054.1:n.108+19_108+21del