Canonical Allele Identifier: CA1752418404
Community Standard Title: NM_000238.4(KCNH2):c.656A= (p.Asp219=)
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958319T= , CM000669.2:g.150958319T= GRCh38
NC_000007.13:g.150655407T= , CM000669.1:g.150655407T= GRCh37
NC_000007.12:g.150286340T= NCBI36
NG_008916.1:g.24608A= , LRG_288:g.24608A=

Transcript Alleles

HGVS Amino-acid Change
NM_000238.4:c.656A= MANE Select NP_000229.1:p.Asp219=
ENST00000262186.10:c.656A= MANE Select ENSP00000262186.5:p.Asp219=
NM_000238.3:c.656A= , LRG_288t1:c.656A= NP_000229.1:p.Asp219=
NM_172056.2:c.656A= , LRG_288t2:c.656A= NP_742053.1:p.Asp219=
ENST00000262186.9:c.656A= ENSP00000262186.5:p.Asp219=
ENST00000430723.4:c.308A= ENSP00000387657.4:p.Asp103=
ENST00000532957.5:n.879A=
ENST00000684241.1:n.1489A=
XM_011516185.1:c.356A= XP_011514487.1:p.Asp119=
XM_011516185.2:c.356A= XP_011514487.1:p.Asp119=
XM_011516186.1:c.656A= XP_011514488.1:p.Asp219=
XM_011516186.3:c.656A= XP_011514488.1:p.Asp219=
XM_017012195.1:c.506A= XP_016867684.1:p.Asp169=
XM_017012196.1:c.479A= XP_016867685.1:p.Asp160=