Canonical Allele Identifier: CA1752416660
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957351A= , CM000669.2:g.150957351A= GRCh38
NC_000007.13:g.150654439A= , CM000669.1:g.150654439A= GRCh37
NC_000007.12:g.150285372A= NCBI36
NG_008916.1:g.25576T= , LRG_288:g.25576T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1901T=
ENST00000262186.10:c.1068T= MANE Select ENSP00000262186.5:p.Arg356=
ENST00000262186.9:c.1068T= ENSP00000262186.5:p.Arg356=
ENST00000430723.4:c.720T= ENSP00000387657.4:p.Arg240=
ENST00000532957.5:n.1291T=
NM_000238.3:c.1068T= , LRG_288t1:c.1068T= NP_000229.1:p.Arg356=
NM_172056.2:c.1068T= , LRG_288t2:c.1068T= NP_742053.1:p.Arg356=
XM_011516185.1:c.768T= XP_011514487.1:p.Arg256=
XM_011516186.1:c.1068T= XP_011514488.1:p.Arg356=
XM_011516185.2:c.768T= XP_011514487.1:p.Arg256=
XM_011516186.3:c.1068T= XP_011514488.1:p.Arg356=
XM_017012195.1:c.918T= XP_016867684.1:p.Arg306=
XM_017012196.1:c.891T= XP_016867685.1:p.Arg297=
NM_000238.4:c.1068T= MANE Select NP_000229.1:p.Arg356=