Canonical Allele Identifier: CA1752433228
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950152_150950153delinsGC , CM000669.2:g.150950152_150950153delinsGC GRCh38
NC_000007.13:g.150647240_150647241delinsGC , CM000669.1:g.150647240_150647241delinsGC GRCh37
NC_000007.12:g.150278173_150278174delinsGC NCBI36
NG_008916.1:g.32774_32775delinsGC , LRG_288:g.32774_32775delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1711_1712delinsGC
ENST00000684241.1:n.3231+15_3231+16delinsGC
ENST00000262186.10:c.2398+15_2398+16delinsGC MANE Select ENSP00000262186.5:n.2398+15_2398+16delinsGC
ENST00000330883.9:c.1378+15_1378+16delinsGC ENSP00000328531.4:n.1378+15_1378+16delinsGC
ENST00000262186.9:c.2398+15_2398+16delinsGC ENSP00000262186.5:n.2398+15_2398+16delinsGC
ENST00000330883.8:c.1378+15_1378+16delinsGC ENSP00000328531.4:n.1378+15_1378+16delinsGC
ENST00000430723.4:c.2065_2066delinsGC ENSP00000387657.4:p.Ala689=
ENST00000461280.1:n.1700_1701delinsGC
ENST00000473610.5:n.2045_2046delinsGC
ENST00000532957.5:n.2636_2637delinsGC
NM_000238.3:c.2398+15_2398+16delinsGC , LRG_288t1:c.2398+15_2398+16delinsGC NP_000229.1:n.2398+15_2398+16delinsGC
NM_001204798.1:c.1393_1394delinsGC NP_001191727.1:p.Ala465=
NM_172056.2:c.2413_2414delinsGC , LRG_288t2:c.2413_2414delinsGC NP_742053.1:p.Ala805=
NM_172057.2:c.1378+15_1378+16delinsGC , LRG_288t3:c.1378+15_1378+16delinsGC NP_742054.1:n.1378+15_1378+16delinsGC
XM_011516185.1:c.2098+15_2098+16delinsGC XP_011514487.1:n.2098+15_2098+16delinsGC
XM_011516186.1:c.2398+15_2398+16delinsGC XP_011514488.1:n.2398+15_2398+16delinsGC
XM_011516185.2:c.2098+15_2098+16delinsGC XP_011514487.1:n.2098+15_2098+16delinsGC
XM_011516186.3:c.2398+15_2398+16delinsGC XP_011514488.1:n.2398+15_2398+16delinsGC
XM_017012195.1:c.2248+15_2248+16delinsGC XP_016867684.1:n.2248+15_2248+16delinsGC
XM_017012196.1:c.2221+15_2221+16delinsGC XP_016867685.1:n.2221+15_2221+16delinsGC
NM_000238.4:c.2398+15_2398+16delinsGC MANE Select NP_000229.1:n.2398+15_2398+16delinsGC
NM_001204798.2:c.1393_1394delinsGC NP_001191727.1:p.Ala465=
NM_172057.3:c.1378+15_1378+16delinsGC NP_742054.1:n.1378+15_1378+16delinsGC