Canonical Allele Identifier: CA1752417912
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958133C= , CM000669.2:g.150958133C= GRCh38
NC_000007.13:g.150655221C= , CM000669.1:g.150655221C= GRCh37
NC_000007.12:g.150286154C= NCBI36
NG_008916.1:g.24794G= , LRG_288:g.24794G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1675G=
ENST00000262186.10:c.842G= MANE Select ENSP00000262186.5:p.Arg281=
ENST00000262186.9:c.842G= ENSP00000262186.5:p.Arg281=
ENST00000430723.4:c.494G= ENSP00000387657.4:p.Arg165=
ENST00000532957.5:n.1065G=
NM_000238.3:c.842G= , LRG_288t1:c.842G= NP_000229.1:p.Arg281=
NM_172056.2:c.842G= , LRG_288t2:c.842G= NP_742053.1:p.Arg281=
XM_011516185.1:c.542G= XP_011514487.1:p.Arg181=
XM_011516186.1:c.842G= XP_011514488.1:p.Arg281=
XM_011516185.2:c.542G= XP_011514487.1:p.Arg181=
XM_011516186.3:c.842G= XP_011514488.1:p.Arg281=
XM_017012195.1:c.692G= XP_016867684.1:p.Arg231=
XM_017012196.1:c.665G= XP_016867685.1:p.Arg222=
NM_000238.4:c.842G= MANE Select NP_000229.1:p.Arg281=