Canonical Allele Identifier: CA1752417865
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958112A= , CM000669.2:g.150958112A= GRCh38
NC_000007.13:g.150655200A= , CM000669.1:g.150655200A= GRCh37
NC_000007.12:g.150286133A= NCBI36
NG_008916.1:g.24815T= , LRG_288:g.24815T=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1696T=
ENST00000262186.10:c.863T= MANE Select ENSP00000262186.5:p.Ile288=
ENST00000262186.9:c.863T= ENSP00000262186.5:p.Ile288=
ENST00000430723.4:c.515T= ENSP00000387657.4:p.Ile172=
ENST00000532957.5:n.1086T=
NM_000238.3:c.863T= , LRG_288t1:c.863T= NP_000229.1:p.Ile288=
NM_172056.2:c.863T= , LRG_288t2:c.863T= NP_742053.1:p.Ile288=
XM_011516185.1:c.563T= XP_011514487.1:p.Ile188=
XM_011516186.1:c.863T= XP_011514488.1:p.Ile288=
XM_011516185.2:c.563T= XP_011514487.1:p.Ile188=
XM_011516186.3:c.863T= XP_011514488.1:p.Ile288=
XM_017012195.1:c.713T= XP_016867684.1:p.Ile238=
XM_017012196.1:c.686T= XP_016867685.1:p.Ile229=
NM_000238.4:c.863T= MANE Select NP_000229.1:p.Ile288=