Canonical Allele Identifier: CA2685601886
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950146_150950147insGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGG , CM000669.2:g.150950146_150950147insGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGG GRCh38
NC_000007.13:g.150647234_150647235insGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGG , CM000669.1:g.150647234_150647235insGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGG GRCh37
NC_000007.12:g.150278167_150278168insGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGG NCBI36
NG_008916.1:g.32781_32782insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC , LRG_288:g.32781_32782insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1718_1719insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC
ENST00000684241.1:n.3231+22_3231+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC
ENST00000262186.10:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC MANE Select ENSP00000262186.5:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCC...
ENST00000330883.9:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC ENSP00000328531.4:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCCCGCC...
ENST00000262186.9:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC ENSP00000262186.5:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCC...
ENST00000330883.8:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC ENSP00000328531.4:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCCCGCC...
ENST00000430723.4:c.2072_2073insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC ENSP00000387657.4:p.Thr691_Gly692insProProProProProProArgProP...
ENST00000461280.1:n.1707_1708insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC
ENST00000473610.5:n.2052_2053insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC
ENST00000532957.5:n.2643_2644insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC
NM_000238.3:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC , LRG_288t1:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC NP_000229.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCC...
NM_001204798.1:c.1400_1401insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC NP_001191727.1:p.Thr467_Gly468insProProProProProProArgProProP...
NM_172056.2:c.2420_2421insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC , LRG_288t2:c.2420_2421insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC NP_742053.1:p.Thr807_Gly808insProProProProProProArgProProProP...
NM_172057.2:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC , LRG_288t3:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC NP_742054.1:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCC...
XM_011516185.1:c.2098+22_2098+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC XP_011514487.1:n.2098+22_2098+23insCCCCCCCCCCCCCCCCCCCCGCCCCC...
XM_011516186.1:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC XP_011514488.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCC...
XM_011516185.2:c.2098+22_2098+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC XP_011514487.1:n.2098+22_2098+23insCCCCCCCCCCCCCCCCCCCCGCCCCC...
XM_011516186.3:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC XP_011514488.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCC...
XM_017012195.1:c.2248+22_2248+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC XP_016867684.1:n.2248+22_2248+23insCCCCCCCCCCCCCCCCCCCCGCCCCC...
XM_017012196.1:c.2221+22_2221+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC XP_016867685.1:n.2221+22_2221+23insCCCCCCCCCCCCCCCCCCCCGCCCCC...
NM_000238.4:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC MANE Select NP_000229.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCC...
NM_001204798.2:c.1400_1401insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC NP_001191727.1:p.Thr467_Gly468insProProProProProProArgProProP...
NM_172057.3:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCCCCCCCCC NP_742054.1:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCCCGCCCCCCCC...