Canonical Allele Identifier: CA1752418488
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958346A= , CM000669.2:g.150958346A= GRCh38
NC_000007.13:g.150655434A= , CM000669.1:g.150655434A= GRCh37
NC_000007.12:g.150286367A= NCBI36
NG_008916.1:g.24581T= , LRG_288:g.24581T=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1462T=
ENST00000262186.10:c.629T= MANE Select ENSP00000262186.5:p.Leu210=
ENST00000262186.9:c.629T= ENSP00000262186.5:p.Leu210=
ENST00000430723.4:c.281T= ENSP00000387657.4:p.Leu94=
ENST00000532957.5:n.852T=
NM_000238.3:c.629T= , LRG_288t1:c.629T= NP_000229.1:p.Leu210=
NM_172056.2:c.629T= , LRG_288t2:c.629T= NP_742053.1:p.Leu210=
XM_011516185.1:c.329T= XP_011514487.1:p.Leu110=
XM_011516186.1:c.629T= XP_011514488.1:p.Leu210=
XM_011516185.2:c.329T= XP_011514487.1:p.Leu110=
XM_011516186.3:c.629T= XP_011514488.1:p.Leu210=
XM_017012195.1:c.479T= XP_016867684.1:p.Leu160=
XM_017012196.1:c.452T= XP_016867685.1:p.Leu151=
NM_000238.4:c.629T= MANE Select NP_000229.1:p.Leu210=