Canonical Allele Identifier: CA1752434720
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951256G= , CM000669.2:g.150951256G= GRCh38
NC_000007.13:g.150648344G= , CM000669.1:g.150648344G= GRCh37
NC_000007.12:g.150279277G= NCBI36
NG_008916.1:g.31671C= , LRG_288:g.31671C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1244-136C=
ENST00000683359.1:n.70-136C=
ENST00000684241.1:n.2779-136C=
ENST00000262186.10:c.1946-136C= MANE Select ENSP00000262186.5:n.1946-136C=
ENST00000330883.9:c.926-136C= ENSP00000328531.4:n.926-136C=
ENST00000262186.9:c.1946-136C= ENSP00000262186.5:n.1946-136C=
ENST00000330883.8:c.926-136C= ENSP00000328531.4:n.926-136C=
ENST00000430723.4:c.1598-136C= ENSP00000387657.4:n.1598-136C=
ENST00000461280.1:n.1233-136C=
ENST00000473610.5:n.1442C=
ENST00000532957.5:n.2169-136C=
NM_000238.3:c.1946-136C= , LRG_288t1:c.1946-136C= NP_000229.1:n.1946-136C=
NM_001204798.1:c.926-136C= NP_001191727.1:n.926-136C=
NM_172056.2:c.1946-136C= , LRG_288t2:c.1946-136C= NP_742053.1:n.1946-136C=
NM_172057.2:c.926-136C= , LRG_288t3:c.926-136C= NP_742054.1:n.926-136C=
XM_011516185.1:c.1646-136C= XP_011514487.1:n.1646-136C=
XM_011516186.1:c.1946-136C= XP_011514488.1:n.1946-136C=
XM_011516185.2:c.1646-136C= XP_011514487.1:n.1646-136C=
XM_011516186.3:c.1946-136C= XP_011514488.1:n.1946-136C=
XM_017012195.1:c.1796-136C= XP_016867684.1:n.1796-136C=
XM_017012196.1:c.1769-136C= XP_016867685.1:n.1769-136C=
NM_000238.4:c.1946-136C= MANE Select NP_000229.1:n.1946-136C=
NM_001204798.2:c.926-136C= NP_001191727.1:n.926-136C=
NM_172057.3:c.926-136C= NP_742054.1:n.926-136C=