Canonical Allele Identifier: CA918162372
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1584849775

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150949989_150949990del , CM000669.2:g.150949989_150949990del GRCh38
NC_000007.13:g.150647077_150647078del , CM000669.1:g.150647077_150647078del GRCh37
NC_000007.12:g.150278010_150278011del NCBI36
NG_008916.1:g.32937_32938del , LRG_288:g.32937_32938del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1874_1875del
ENST00000684241.1:n.3231+178_3231+179del
ENST00000262186.10:c.2398+178_2398+179del MANE Select ENSP00000262186.5:n.2398+178_2398+179del
ENST00000330883.9:c.1378+178_1378+179del ENSP00000328531.4:n.1378+178_1378+179del
ENST00000262186.9:c.2398+178_2398+179del ENSP00000262186.5:n.2398+178_2398+179del
ENST00000330883.8:c.1378+178_1378+179del ENSP00000328531.4:n.1378+178_1378+179del
ENST00000430723.4:c.2228_2229del ENSP00000387657.4:p.Thr743MetfsTer3
ENST00000461280.1:n.1863_1864del
ENST00000473610.5:n.2208_2209del
ENST00000532957.5:n.2799_2800del
NM_000238.3:c.2398+178_2398+179del , LRG_288t1:c.2398+178_2398+179del NP_000229.1:n.2398+178_2398+179del
NM_001204798.1:c.1556_1557del NP_001191727.1:p.Thr519MetfsTer3
NM_172056.2:c.2576_2577del , LRG_288t2:c.2576_2577del NP_742053.1:p.Thr859MetfsTer3
NM_172057.2:c.1378+178_1378+179del , LRG_288t3:c.1378+178_1378+179del NP_742054.1:n.1378+178_1378+179del
XM_011516185.1:c.2098+178_2098+179del XP_011514487.1:n.2098+178_2098+179del
XM_011516186.1:c.2398+178_2398+179del XP_011514488.1:n.2398+178_2398+179del
XM_011516185.2:c.2098+178_2098+179del XP_011514487.1:n.2098+178_2098+179del
XM_011516186.3:c.2398+178_2398+179del XP_011514488.1:n.2398+178_2398+179del
XM_017012195.1:c.2248+178_2248+179del XP_016867684.1:n.2248+178_2248+179del
XM_017012196.1:c.2221+178_2221+179del XP_016867685.1:n.2221+178_2221+179del
NM_000238.4:c.2398+178_2398+179del MANE Select NP_000229.1:n.2398+178_2398+179del
NM_001204798.2:c.1556_1557del NP_001191727.1:p.Thr519MetfsTer3
NM_172057.3:c.1378+178_1378+179del NP_742054.1:n.1378+178_1378+179del