Canonical Allele Identifier: CA2685602040
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950148_150950149insGGGGGGGCGGGGGGGGGGGGGGGGGGGGGG , CM000669.2:g.150950148_150950149insGGGGGGGCGGGGGGGGGGGGGGGGGGGGGG GRCh38
NC_000007.13:g.150647236_150647237insGGGGGGGCGGGGGGGGGGGGGGGGGGGGGG , CM000669.1:g.150647236_150647237insGGGGGGGCGGGGGGGGGGGGGGGGGGGGGG GRCh37
NC_000007.12:g.150278169_150278170insGGGGGGGCGGGGGGGGGGGGGGGGGGGGGG NCBI36
NG_008916.1:g.32779_32780insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC , LRG_288:g.32779_32780insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1716_1717insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC
ENST00000684241.1:n.3231+20_3231+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC
ENST00000262186.10:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC MANE Select ENSP00000262186.5:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGC...
ENST00000330883.9:c.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC ENSP00000328531.4:n.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCGC...
ENST00000262186.9:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC ENSP00000262186.5:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGC...
ENST00000330883.8:c.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC ENSP00000328531.4:n.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCGC...
ENST00000430723.4:c.2070_2071insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC ENSP00000387657.4:p.Gly690_Thr691insProProProProProProProAlaP...
ENST00000461280.1:n.1705_1706insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC
ENST00000473610.5:n.2050_2051insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC
ENST00000532957.5:n.2641_2642insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC
NM_000238.3:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC , LRG_288t1:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC NP_000229.1:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCC...
NM_001204798.1:c.1398_1399insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC NP_001191727.1:p.Gly466_Thr467insProProProProProProProAlaProP...
NM_172056.2:c.2418_2419insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC , LRG_288t2:c.2418_2419insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC NP_742053.1:p.Gly806_Thr807insProProProProProProProAlaProPro
NM_172057.2:c.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC , LRG_288t3:c.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC NP_742054.1:n.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCC...
XM_011516185.1:c.2098+20_2098+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC XP_011514487.1:n.2098+20_2098+21insCCCCCCCCCCCCCCCCCCCCCGCCCC...
XM_011516186.1:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC XP_011514488.1:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCC...
XM_011516185.2:c.2098+20_2098+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC XP_011514487.1:n.2098+20_2098+21insCCCCCCCCCCCCCCCCCCCCCGCCCC...
XM_011516186.3:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC XP_011514488.1:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCC...
XM_017012195.1:c.2248+20_2248+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC XP_016867684.1:n.2248+20_2248+21insCCCCCCCCCCCCCCCCCCCCCGCCCC...
XM_017012196.1:c.2221+20_2221+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC XP_016867685.1:n.2221+20_2221+21insCCCCCCCCCCCCCCCCCCCCCGCCCC...
NM_000238.4:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC MANE Select NP_000229.1:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCC...
NM_001204798.2:c.1398_1399insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC NP_001191727.1:p.Gly466_Thr467insProProProProProProProAlaProP...
NM_172057.3:c.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCCC NP_742054.1:n.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCGCCCCCCC...