Canonical Allele Identifier: CA1752433993
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950809C= , CM000669.2:g.150950809C= GRCh38
NC_000007.13:g.150647897C= , CM000669.1:g.150647897C= GRCh37
NC_000007.12:g.150278830C= NCBI36
NG_008916.1:g.32118G= , LRG_288:g.32118G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1443+112G=
ENST00000683359.1:n.381G=
ENST00000684241.1:n.2978+112G=
ENST00000262186.10:c.2145+112G= MANE Select ENSP00000262186.5:n.2145+112G=
ENST00000330883.9:c.1125+112G= ENSP00000328531.4:n.1125+112G=
ENST00000262186.9:c.2145+112G= ENSP00000262186.5:n.2145+112G=
ENST00000330883.8:c.1125+112G= ENSP00000328531.4:n.1125+112G=
ENST00000430723.4:c.1797+112G= ENSP00000387657.4:n.1797+112G=
ENST00000461280.1:n.1432+112G=
ENST00000473610.5:n.1777+112G=
ENST00000532957.5:n.2368+112G=
NM_000238.3:c.2145+112G= , LRG_288t1:c.2145+112G= NP_000229.1:n.2145+112G=
NM_001204798.1:c.1125+112G= NP_001191727.1:n.1125+112G=
NM_172056.2:c.2145+112G= , LRG_288t2:c.2145+112G= NP_742053.1:n.2145+112G=
NM_172057.2:c.1125+112G= , LRG_288t3:c.1125+112G= NP_742054.1:n.1125+112G=
XM_011516185.1:c.1845+112G= XP_011514487.1:n.1845+112G=
XM_011516186.1:c.2145+112G= XP_011514488.1:n.2145+112G=
XM_011516185.2:c.1845+112G= XP_011514487.1:n.1845+112G=
XM_011516186.3:c.2145+112G= XP_011514488.1:n.2145+112G=
XM_017012195.1:c.1995+112G= XP_016867684.1:n.1995+112G=
XM_017012196.1:c.1968+112G= XP_016867685.1:n.1968+112G=
NM_000238.4:c.2145+112G= MANE Select NP_000229.1:n.2145+112G=
NM_001204798.2:c.1125+112G= NP_001191727.1:n.1125+112G=
NM_172057.3:c.1125+112G= NP_742054.1:n.1125+112G=