Canonical Allele Identifier: CA2685601891

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950145-A-AGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950146_150950147insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGG , CM000669.2:g.150950146_150950147insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000007.13:g.150647234_150647235insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGG , CM000669.1:g.150647234_150647235insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000007.12:g.150278167_150278168insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGG	NCBI36
NG_008916.1:g.32781_32782insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC , LRG_288:g.32781_32782insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1718_1719insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC
ENST00000684241.1:n.3231+22_3231+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC
ENST00000262186.10:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC MANE Select	ENSP00000262186.5:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCC...
ENST00000330883.9:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	ENSP00000328531.4:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCGCCCC...
ENST00000262186.9:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	ENSP00000262186.5:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCC...
ENST00000330883.8:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	ENSP00000328531.4:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCGCCCC...
ENST00000430723.4:c.2072_2073insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	ENSP00000387657.4:p.Gly692ProfsTer?
ENST00000461280.1:n.1707_1708insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC
ENST00000473610.5:n.2052_2053insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC
ENST00000532957.5:n.2643_2644insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC
NM_000238.3:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC , LRG_288t1:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	NP_000229.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCC...
NM_001204798.1:c.1400_1401insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	NP_001191727.1:p.Gly468ProfsTer?
NM_172056.2:c.2420_2421insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC , LRG_288t2:c.2420_2421insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	NP_742053.1:p.Gly808ProfsTer?
NM_172057.2:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC , LRG_288t3:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	NP_742054.1:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCC...
XM_011516185.1:c.2098+22_2098+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	XP_011514487.1:n.2098+22_2098+23insCCCCCCCCCCCCCCCCCCGCCCCCCC...
XM_011516186.1:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	XP_011514488.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCC...
XM_011516185.2:c.2098+22_2098+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	XP_011514487.1:n.2098+22_2098+23insCCCCCCCCCCCCCCCCCCGCCCCCCC...
XM_011516186.3:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	XP_011514488.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCC...
XM_017012195.1:c.2248+22_2248+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	XP_016867684.1:n.2248+22_2248+23insCCCCCCCCCCCCCCCCCCGCCCCCCC...
XM_017012196.1:c.2221+22_2221+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	XP_016867685.1:n.2221+22_2221+23insCCCCCCCCCCCCCCCCCCGCCCCCCC...
NM_000238.4:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC MANE Select	NP_000229.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCC...
NM_001204798.2:c.1400_1401insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	NP_001191727.1:p.Gly468ProfsTer?
NM_172057.3:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCC	NP_742054.1:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCGCCCCCCCCCC...