Canonical Allele Identifier: CA1752409829
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951556T= , CM000669.2:g.150951556T= GRCh38
NC_000007.13:g.150648644T= , CM000669.1:g.150648644T= GRCh37
NC_000007.12:g.150279577T= NCBI36
NG_008916.1:g.31371A= , LRG_288:g.31371A=

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1135A=
ENST00000684241.1:n.2670A=
ENST00000262186.10:c.1837A= MANE Select ENSP00000262186.5:p.Thr613=
ENST00000330883.9:c.817A= ENSP00000328531.4:p.Thr273=
ENST00000262186.9:c.1837A= ENSP00000262186.5:p.Thr613=
ENST00000330883.8:c.817A= ENSP00000328531.4:p.Thr273=
ENST00000430723.4:c.1489A= ENSP00000387657.4:p.Thr497=
ENST00000461280.1:n.1124A=
ENST00000473610.5:n.1142A=
ENST00000532957.5:n.2060A=
NM_000238.3:c.1837A= , LRG_288t1:c.1837A= NP_000229.1:p.Thr613=
NM_001204798.1:c.817A= NP_001191727.1:p.Thr273=
NM_172056.2:c.1837A= , LRG_288t2:c.1837A= NP_742053.1:p.Thr613=
NM_172057.2:c.817A= , LRG_288t3:c.817A= NP_742054.1:p.Thr273=
XM_011516185.1:c.1537A= XP_011514487.1:p.Thr513=
XM_011516186.1:c.1837A= XP_011514488.1:p.Thr613=
XM_011516185.2:c.1537A= XP_011514487.1:p.Thr513=
XM_011516186.3:c.1837A= XP_011514488.1:p.Thr613=
XM_017012195.1:c.1687A= XP_016867684.1:p.Thr563=
XM_017012196.1:c.1660A= XP_016867685.1:p.Thr554=
NM_000238.4:c.1837A= MANE Select NP_000229.1:p.Thr613=
NM_001204798.2:c.817A= NP_001191727.1:p.Thr273=
NM_172057.3:c.817A= NP_742054.1:p.Thr273=