Canonical Allele Identifier: CA2685601780
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150949992_150949993insA , CM000669.2:g.150949992_150949993insA GRCh38
NC_000007.13:g.150647080_150647081insA , CM000669.1:g.150647080_150647081insA GRCh37
NC_000007.12:g.150278013_150278014insA NCBI36
NG_008916.1:g.32934_32935insT , LRG_288:g.32934_32935insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1871_1872insT
ENST00000684241.1:n.3231+175_3231+176insT
ENST00000262186.10:c.2398+175_2398+176insT MANE Select ENSP00000262186.5:n.2398+175_2398+176insT
ENST00000330883.9:c.1378+175_1378+176insT ENSP00000328531.4:n.1378+175_1378+176insT
ENST00000262186.9:c.2398+175_2398+176insT ENSP00000262186.5:n.2398+175_2398+176insT
ENST00000330883.8:c.1378+175_1378+176insT ENSP00000328531.4:n.1378+175_1378+176insT
ENST00000430723.4:c.2225_2226insT ENSP00000387657.4:p.Thr743HisfsTer4
ENST00000461280.1:n.1860_1861insT
ENST00000473610.5:n.2205_2206insT
ENST00000532957.5:n.2796_2797insT
NM_000238.3:c.2398+175_2398+176insT , LRG_288t1:c.2398+175_2398+176insT NP_000229.1:n.2398+175_2398+176insT
NM_001204798.1:c.1553_1554insT NP_001191727.1:p.Thr519HisfsTer4
NM_172056.2:c.2573_2574insT , LRG_288t2:c.2573_2574insT NP_742053.1:p.Thr859HisfsTer4
NM_172057.2:c.1378+175_1378+176insT , LRG_288t3:c.1378+175_1378+176insT NP_742054.1:n.1378+175_1378+176insT
XM_011516185.1:c.2098+175_2098+176insT XP_011514487.1:n.2098+175_2098+176insT
XM_011516186.1:c.2398+175_2398+176insT XP_011514488.1:n.2398+175_2398+176insT
XM_011516185.2:c.2098+175_2098+176insT XP_011514487.1:n.2098+175_2098+176insT
XM_011516186.3:c.2398+175_2398+176insT XP_011514488.1:n.2398+175_2398+176insT
XM_017012195.1:c.2248+175_2248+176insT XP_016867684.1:n.2248+175_2248+176insT
XM_017012196.1:c.2221+175_2221+176insT XP_016867685.1:n.2221+175_2221+176insT
NM_000238.4:c.2398+175_2398+176insT MANE Select NP_000229.1:n.2398+175_2398+176insT
NM_001204798.2:c.1553_1554insT NP_001191727.1:p.Thr519HisfsTer4
NM_172057.3:c.1378+175_1378+176insT NP_742054.1:n.1378+175_1378+176insT