Canonical Allele Identifier: CA1752434287
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951024C= , CM000669.2:g.150951024C= GRCh38
NC_000007.13:g.150648112C= , CM000669.1:g.150648112C= GRCh37
NC_000007.12:g.150279045C= NCBI36
NG_008916.1:g.31903G= , LRG_288:g.31903G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1340G=
ENST00000683359.1:n.166G=
ENST00000684241.1:n.2875G=
ENST00000262186.10:c.2042G= MANE Select ENSP00000262186.5:p.Arg681=
ENST00000330883.9:c.1022G= ENSP00000328531.4:p.Arg341=
ENST00000262186.9:c.2042G= ENSP00000262186.5:p.Arg681=
ENST00000330883.8:c.1022G= ENSP00000328531.4:p.Arg341=
ENST00000430723.4:c.1694G= ENSP00000387657.4:p.Arg565=
ENST00000461280.1:n.1329G=
ENST00000473610.5:n.1674G=
ENST00000532957.5:n.2265G=
NM_000238.3:c.2042G= , LRG_288t1:c.2042G= NP_000229.1:p.Arg681=
NM_001204798.1:c.1022G= NP_001191727.1:p.Arg341=
NM_172056.2:c.2042G= , LRG_288t2:c.2042G= NP_742053.1:p.Arg681=
NM_172057.2:c.1022G= , LRG_288t3:c.1022G= NP_742054.1:p.Arg341=
XM_011516185.1:c.1742G= XP_011514487.1:p.Arg581=
XM_011516186.1:c.2042G= XP_011514488.1:p.Arg681=
XM_011516185.2:c.1742G= XP_011514487.1:p.Arg581=
XM_011516186.3:c.2042G= XP_011514488.1:p.Arg681=
XM_017012195.1:c.1892G= XP_016867684.1:p.Arg631=
XM_017012196.1:c.1865G= XP_016867685.1:p.Arg622=
NM_000238.4:c.2042G= MANE Select NP_000229.1:p.Arg681=
NM_001204798.2:c.1022G= NP_001191727.1:p.Arg341=
NM_172057.3:c.1022G= NP_742054.1:p.Arg341=