Canonical Allele Identifier: CA1752412220
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952777T= , CM000669.2:g.150952777T= GRCh38
NC_000007.13:g.150649865T= , CM000669.1:g.150649865T= GRCh37
NC_000007.12:g.150280798T= NCBI36
NG_008916.1:g.30150A= , LRG_288:g.30150A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.503A=
ENST00000684116.1:n.98A=
ENST00000684241.1:n.2038A=
ENST00000262186.10:c.1205A= MANE Select ENSP00000262186.5:p.His402=
ENST00000330883.9:c.185A= ENSP00000328531.4:p.His62=
ENST00000262186.9:c.1205A= ENSP00000262186.5:p.His402=
ENST00000330883.8:c.185A= ENSP00000328531.4:p.His62=
ENST00000430723.4:c.857A= ENSP00000387657.4:p.His286=
ENST00000461280.1:n.492A=
ENST00000473610.5:n.510A=
ENST00000532957.5:n.1428A=
NM_000238.3:c.1205A= , LRG_288t1:c.1205A= NP_000229.1:p.His402=
NM_001204798.1:c.185A= NP_001191727.1:p.His62=
NM_172056.2:c.1205A= , LRG_288t2:c.1205A= NP_742053.1:p.His402=
NM_172057.2:c.185A= , LRG_288t3:c.185A= NP_742054.1:p.His62=
XM_011516185.1:c.905A= XP_011514487.1:p.His302=
XM_011516186.1:c.1205A= XP_011514488.1:p.His402=
XM_011516185.2:c.905A= XP_011514487.1:p.His302=
XM_011516186.3:c.1205A= XP_011514488.1:p.His402=
XM_017012195.1:c.1055A= XP_016867684.1:p.His352=
XM_017012196.1:c.1028A= XP_016867685.1:p.His343=
NM_000238.4:c.1205A= MANE Select NP_000229.1:p.His402=
NM_001204798.2:c.185A= NP_001191727.1:p.His62=
NM_172057.3:c.185A= NP_742054.1:p.His62=