Canonical Allele Identifier: CA1752417972
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958156T= , CM000669.2:g.150958156T= GRCh38
NC_000007.13:g.150655244T= , CM000669.1:g.150655244T= GRCh37
NC_000007.12:g.150286177T= NCBI36
NG_008916.1:g.24771A= , LRG_288:g.24771A=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1652A=
ENST00000262186.10:c.819A= MANE Select ENSP00000262186.5:p.Arg273=
ENST00000262186.9:c.819A= ENSP00000262186.5:p.Arg273=
ENST00000430723.4:c.471A= ENSP00000387657.4:p.Arg157=
ENST00000532957.5:n.1042A=
NM_000238.3:c.819A= , LRG_288t1:c.819A= NP_000229.1:p.Arg273=
NM_172056.2:c.819A= , LRG_288t2:c.819A= NP_742053.1:p.Arg273=
XM_011516185.1:c.519A= XP_011514487.1:p.Arg173=
XM_011516186.1:c.819A= XP_011514488.1:p.Arg273=
XM_011516185.2:c.519A= XP_011514487.1:p.Arg173=
XM_011516186.3:c.819A= XP_011514488.1:p.Arg273=
XM_017012195.1:c.669A= XP_016867684.1:p.Arg223=
XM_017012196.1:c.642A= XP_016867685.1:p.Arg214=
NM_000238.4:c.819A= MANE Select NP_000229.1:p.Arg273=