Canonical Allele Identifier: CA2685601871

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950145-A-AGGGGGGGGGGGGGGGGGGGGGGGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950146_150950147insGGGGGGGGGGGGGGGGGGGGGGGTGGG , CM000669.2:g.150950146_150950147insGGGGGGGGGGGGGGGGGGGGGGGTGGG	GRCh38
NC_000007.13:g.150647234_150647235insGGGGGGGGGGGGGGGGGGGGGGGTGGG , CM000669.1:g.150647234_150647235insGGGGGGGGGGGGGGGGGGGGGGGTGGG	GRCh37
NC_000007.12:g.150278167_150278168insGGGGGGGGGGGGGGGGGGGGGGGTGGG	NCBI36
NG_008916.1:g.32781_32782insCCACCCCCCCCCCCCCCCCCCCCCCCC , LRG_288:g.32781_32782insCCACCCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1718_1719insCCACCCCCCCCCCCCCCCCCCCCCCCC
ENST00000684241.1:n.3231+22_3231+23insCCACCCCCCCCCCCCCCCCCCCCCCCC
ENST00000262186.10:c.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000262186.5:n.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCC...
ENST00000330883.9:c.1378+22_1378+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+22_1378+23insCCACCCCCCCCCCCCCCCCCCCC...
ENST00000262186.9:c.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000262186.5:n.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCC...
ENST00000330883.8:c.1378+22_1378+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+22_1378+23insCCACCCCCCCCCCCCCCCCCCCC...
ENST00000430723.4:c.2072_2073insCCACCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000387657.4:p.Thr691_Gly692insHisProProProProProProProP...
ENST00000461280.1:n.1707_1708insCCACCCCCCCCCCCCCCCCCCCCCCCC
ENST00000473610.5:n.2052_2053insCCACCCCCCCCCCCCCCCCCCCCCCCC
ENST00000532957.5:n.2643_2644insCCACCCCCCCCCCCCCCCCCCCCCCCC
NM_000238.3:c.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t1:c.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	NP_000229.1:n.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCCC
NM_001204798.1:c.1400_1401insCCACCCCCCCCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Thr467_Gly468insHisProProProProProProProPro
NM_172056.2:c.2420_2421insCCACCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t2:c.2420_2421insCCACCCCCCCCCCCCCCCCCCCCCCCC	NP_742053.1:p.Thr807_Gly808insHisProProProProProProProPro
NM_172057.2:c.1378+22_1378+23insCCACCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t3:c.1378+22_1378+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	NP_742054.1:n.1378+22_1378+23insCCACCCCCCCCCCCCCCCCCCCCCCCC
XM_011516185.1:c.2098+22_2098+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	XP_011514487.1:n.2098+22_2098+23insCCACCCCCCCCCCCCCCCCCCCCCCC...
XM_011516186.1:c.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCC...
XM_011516185.2:c.2098+22_2098+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	XP_011514487.1:n.2098+22_2098+23insCCACCCCCCCCCCCCCCCCCCCCCCC...
XM_011516186.3:c.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCC...
XM_017012195.1:c.2248+22_2248+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	XP_016867684.1:n.2248+22_2248+23insCCACCCCCCCCCCCCCCCCCCCCCCC...
XM_017012196.1:c.2221+22_2221+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	XP_016867685.1:n.2221+22_2221+23insCCACCCCCCCCCCCCCCCCCCCCCCC...
NM_000238.4:c.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCCC MANE Select	NP_000229.1:n.2398+22_2398+23insCCACCCCCCCCCCCCCCCCCCCCCCCC
NM_001204798.2:c.1400_1401insCCACCCCCCCCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Thr467_Gly468insHisProProProProProProProPro
NM_172057.3:c.1378+22_1378+23insCCACCCCCCCCCCCCCCCCCCCCCCCC	NP_742054.1:n.1378+22_1378+23insCCACCCCCCCCCCCCCCCCCCCCCCCC