Canonical Allele Identifier: CA2685601827
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950144_150950145insGGGGGGGGGGCG , CM000669.2:g.150950144_150950145insGGGGGGGGGGCG GRCh38
NC_000007.13:g.150647232_150647233insGGGGGGGGGGCG , CM000669.1:g.150647232_150647233insGGGGGGGGGGCG GRCh37
NC_000007.12:g.150278165_150278166insGGGGGGGGGGCG NCBI36
NG_008916.1:g.32782_32783insCGCCCCCCCCCC , LRG_288:g.32782_32783insCGCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1719_1720insCGCCCCCCCCCC
ENST00000684241.1:n.3231+23_3231+24insCGCCCCCCCCCC
ENST00000262186.10:c.2398+23_2398+24insCGCCCCCCCCCC MANE Select ENSP00000262186.5:n.2398+23_2398+24insCGC...
ENST00000330883.9:c.1378+23_1378+24insCGCCCCCCCCCC ENSP00000328531.4:n.1378+23_1378+24insCGC...
ENST00000262186.9:c.2398+23_2398+24insCGCCCCCCCCCC ENSP00000262186.5:n.2398+23_2398+24insCGC...
ENST00000330883.8:c.1378+23_1378+24insCGCCCCCCCCCC ENSP00000328531.4:n.1378+23_1378+24insCGC...
ENST00000430723.4:c.2073_2074insCGCCCCCCCCCC ENSP00000387657.4:p.Thr691_Gly692insArgPr...
ENST00000461280.1:n.1708_1709insCGCCCCCCCCCC
ENST00000473610.5:n.2053_2054insCGCCCCCCCCCC
ENST00000532957.5:n.2644_2645insCGCCCCCCCCCC
NM_000238.3:c.2398+23_2398+24insCGCCCCCCCCCC , LRG_288t1:c.2398+23_2398+24insCGCCCCCCCCCC NP_000229.1:n.2398+23_2398+24insCGCCCCCCC...
NM_001204798.1:c.1401_1402insCGCCCCCCCCCC NP_001191727.1:p.Thr467_Gly468insArgProPr...
NM_172056.2:c.2421_2422insCGCCCCCCCCCC , LRG_288t2:c.2421_2422insCGCCCCCCCCCC NP_742053.1:p.Thr807_Gly808insArgProProPr...
NM_172057.2:c.1378+23_1378+24insCGCCCCCCCCCC , LRG_288t3:c.1378+23_1378+24insCGCCCCCCCCCC NP_742054.1:n.1378+23_1378+24insCGCCCCCCC...
XM_011516185.1:c.2098+23_2098+24insCGCCCCCCCCCC XP_011514487.1:n.2098+23_2098+24insCGCCCC...
XM_011516186.1:c.2398+23_2398+24insCGCCCCCCCCCC XP_011514488.1:n.2398+23_2398+24insCGCCCC...
XM_011516185.2:c.2098+23_2098+24insCGCCCCCCCCCC XP_011514487.1:n.2098+23_2098+24insCGCCCC...
XM_011516186.3:c.2398+23_2398+24insCGCCCCCCCCCC XP_011514488.1:n.2398+23_2398+24insCGCCCC...
XM_017012195.1:c.2248+23_2248+24insCGCCCCCCCCCC XP_016867684.1:n.2248+23_2248+24insCGCCCC...
XM_017012196.1:c.2221+23_2221+24insCGCCCCCCCCCC XP_016867685.1:n.2221+23_2221+24insCGCCCC...
NM_000238.4:c.2398+23_2398+24insCGCCCCCCCCCC MANE Select NP_000229.1:n.2398+23_2398+24insCGCCCCCCC...
NM_001204798.2:c.1401_1402insCGCCCCCCCCCC NP_001191727.1:p.Thr467_Gly468insArgProPr...
NM_172057.3:c.1378+23_1378+24insCGCCCCCCCCCC NP_742054.1:n.1378+23_1378+24insCGCCCCCCC...