Canonical Allele Identifier: CA2685602711

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955253-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955254_150955255insGG , CM000669.2:g.150955254_150955255insGG	GRCh38
NC_000007.13:g.150652342_150652343insGG , CM000669.1:g.150652342_150652343insGG	GRCh37
NC_000007.12:g.150283275_150283276insGG	NCBI36
NG_008916.1:g.27673_27674insCC , LRG_288:g.27673_27674insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.426+142_426+143insCC
ENST00000684241.1:n.1961+2037_1961+2038insCC
ENST00000262186.10:c.1128+2037_1128+2038insCC MANE Select	ENSP00000262186.5:n.1128+2037_1128+2038insCC
ENST00000330883.9:c.108+142_108+143insCC	ENSP00000328531.4:n.108+142_108+143insCC
ENST00000262186.9:c.1128+2037_1128+2038insCC	ENSP00000262186.5:n.1128+2037_1128+2038insCC
ENST00000330883.8:c.108+142_108+143insCC	ENSP00000328531.4:n.108+142_108+143insCC
ENST00000430723.4:c.780+2037_780+2038insCC	ENSP00000387657.4:n.780+2037_780+2038insCC
ENST00000461280.1:n.415+142_415+143insCC
ENST00000473610.5:n.433+142_433+143insCC
ENST00000532957.5:n.1351+2037_1351+2038insCC
NM_000238.3:c.1128+2037_1128+2038insCC , LRG_288t1:c.1128+2037_1128+2038insCC	NP_000229.1:n.1128+2037_1128+2038insCC
NM_001204798.1:c.108+142_108+143insCC	NP_001191727.1:n.108+142_108+143insCC
NM_172056.2:c.1128+2037_1128+2038insCC , LRG_288t2:c.1128+2037_1128+2038insCC	NP_742053.1:n.1128+2037_1128+2038insCC
NM_172057.2:c.108+142_108+143insCC , LRG_288t3:c.108+142_108+143insCC	NP_742054.1:n.108+142_108+143insCC
XM_011516185.1:c.828+2037_828+2038insCC	XP_011514487.1:n.828+2037_828+2038insCC
XM_011516186.1:c.1128+2037_1128+2038insCC	XP_011514488.1:n.1128+2037_1128+2038insCC
XM_011516185.2:c.828+2037_828+2038insCC	XP_011514487.1:n.828+2037_828+2038insCC
XM_011516186.3:c.1128+2037_1128+2038insCC	XP_011514488.1:n.1128+2037_1128+2038insCC
XM_017012195.1:c.978+2037_978+2038insCC	XP_016867684.1:n.978+2037_978+2038insCC
XM_017012196.1:c.951+2037_951+2038insCC	XP_016867685.1:n.951+2037_951+2038insCC
NM_000238.4:c.1128+2037_1128+2038insCC MANE Select	NP_000229.1:n.1128+2037_1128+2038insCC
NM_001204798.2:c.108+142_108+143insCC	NP_001191727.1:n.108+142_108+143insCC
NM_172057.3:c.108+142_108+143insCC	NP_742054.1:n.108+142_108+143insCC