Canonical Allele Identifier: CA1752416808
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957428T= , CM000669.2:g.150957428T= GRCh38
NC_000007.13:g.150654516T= , CM000669.1:g.150654516T= GRCh37
NC_000007.12:g.150285449T= NCBI36
NG_008916.1:g.25499A= , LRG_288:g.25499A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1824A=
ENST00000262186.10:c.991A= MANE Select ENSP00000262186.5:p.Ser331=
ENST00000262186.9:c.991A= ENSP00000262186.5:p.Ser331=
ENST00000430723.4:c.643A= ENSP00000387657.4:p.Ser215=
ENST00000532957.5:n.1214A=
NM_000238.3:c.991A= , LRG_288t1:c.991A= NP_000229.1:p.Ser331=
NM_172056.2:c.991A= , LRG_288t2:c.991A= NP_742053.1:p.Ser331=
XM_011516185.1:c.691A= XP_011514487.1:p.Ser231=
XM_011516186.1:c.991A= XP_011514488.1:p.Ser331=
XM_011516185.2:c.691A= XP_011514487.1:p.Ser231=
XM_011516186.3:c.991A= XP_011514488.1:p.Ser331=
XM_017012195.1:c.841A= XP_016867684.1:p.Ser281=
XM_017012196.1:c.814A= XP_016867685.1:p.Ser272=
NM_000238.4:c.991A= MANE Select NP_000229.1:p.Ser331=