Canonical Allele Identifier: CA2685601924

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950146-G-GGGGGGGGGGGGGGGGGGGGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950146_150950147insGGGGGGGGGGGGGGGGGGGGGGGC , CM000669.2:g.150950146_150950147insGGGGGGGGGGGGGGGGGGGGGGGC	GRCh38
NC_000007.13:g.150647234_150647235insGGGGGGGGGGGGGGGGGGGGGGGC , CM000669.1:g.150647234_150647235insGGGGGGGGGGGGGGGGGGGGGGGC	GRCh37
NC_000007.12:g.150278167_150278168insGGGGGGGGGGGGGGGGGGGGGGGC	NCBI36
NG_008916.1:g.32780_32781insGCCCCCCCCCCCCCCCCCCCCCCC , LRG_288:g.32780_32781insGCCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1717_1718insGCCCCCCCCCCCCCCCCCCCCCCC
ENST00000684241.1:n.3231+21_3231+22insGCCCCCCCCCCCCCCCCCCCCCCC
ENST00000262186.10:c.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000262186.5:n.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCC...
ENST00000330883.9:c.1378+21_1378+22insGCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+21_1378+22insGCCCCCCCCCCCCCCCCCCCCCC...
ENST00000262186.9:c.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000262186.5:n.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCC...
ENST00000330883.8:c.1378+21_1378+22insGCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+21_1378+22insGCCCCCCCCCCCCCCCCCCCCCC...
ENST00000430723.4:c.2071_2072insGCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000387657.4:p.Thr691delinsSerProProProProProProProPro
ENST00000461280.1:n.1706_1707insGCCCCCCCCCCCCCCCCCCCCCCC
ENST00000473610.5:n.2051_2052insGCCCCCCCCCCCCCCCCCCCCCCC
ENST00000532957.5:n.2642_2643insGCCCCCCCCCCCCCCCCCCCCCCC
NM_000238.3:c.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t1:c.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC	NP_000229.1:n.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC
NM_001204798.1:c.1399_1400insGCCCCCCCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Thr467delinsSerProProProProProProProPro
NM_172056.2:c.2419_2420insGCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t2:c.2419_2420insGCCCCCCCCCCCCCCCCCCCCCCC	NP_742053.1:p.Thr807delinsSerProProProProProProProPro
NM_172057.2:c.1378+21_1378+22insGCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t3:c.1378+21_1378+22insGCCCCCCCCCCCCCCCCCCCCCCC	NP_742054.1:n.1378+21_1378+22insGCCCCCCCCCCCCCCCCCCCCCCC
XM_011516185.1:c.2098+21_2098+22insGCCCCCCCCCCCCCCCCCCCCCCC	XP_011514487.1:n.2098+21_2098+22insGCCCCCCCCCCCCCCCCCCCCCCC
XM_011516186.1:c.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC
XM_011516185.2:c.2098+21_2098+22insGCCCCCCCCCCCCCCCCCCCCCCC	XP_011514487.1:n.2098+21_2098+22insGCCCCCCCCCCCCCCCCCCCCCCC
XM_011516186.3:c.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC
XM_017012195.1:c.2248+21_2248+22insGCCCCCCCCCCCCCCCCCCCCCCC	XP_016867684.1:n.2248+21_2248+22insGCCCCCCCCCCCCCCCCCCCCCCC
XM_017012196.1:c.2221+21_2221+22insGCCCCCCCCCCCCCCCCCCCCCCC	XP_016867685.1:n.2221+21_2221+22insGCCCCCCCCCCCCCCCCCCCCCCC
NM_000238.4:c.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC MANE Select	NP_000229.1:n.2398+21_2398+22insGCCCCCCCCCCCCCCCCCCCCCCC
NM_001204798.2:c.1399_1400insGCCCCCCCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Thr467delinsSerProProProProProProProPro
NM_172057.3:c.1378+21_1378+22insGCCCCCCCCCCCCCCCCCCCCCCC	NP_742054.1:n.1378+21_1378+22insGCCCCCCCCCCCCCCCCCCCCCCC