Canonical Allele Identifier: CA1752416850
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957440A= , CM000669.2:g.150957440A= GRCh38
NC_000007.13:g.150654528A= , CM000669.1:g.150654528A= GRCh37
NC_000007.12:g.150285461A= NCBI36
NG_008916.1:g.25487T= , LRG_288:g.25487T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1812T=
ENST00000262186.10:c.979T= MANE Select ENSP00000262186.5:p.Tyr327=
ENST00000262186.9:c.979T= ENSP00000262186.5:p.Tyr327=
ENST00000430723.4:c.631T= ENSP00000387657.4:p.Tyr211=
ENST00000532957.5:n.1202T=
NM_000238.3:c.979T= , LRG_288t1:c.979T= NP_000229.1:p.Tyr327=
NM_172056.2:c.979T= , LRG_288t2:c.979T= NP_742053.1:p.Tyr327=
XM_011516185.1:c.679T= XP_011514487.1:p.Tyr227=
XM_011516186.1:c.979T= XP_011514488.1:p.Tyr327=
XM_011516185.2:c.679T= XP_011514487.1:p.Tyr227=
XM_011516186.3:c.979T= XP_011514488.1:p.Tyr327=
XM_017012195.1:c.829T= XP_016867684.1:p.Tyr277=
XM_017012196.1:c.802T= XP_016867685.1:p.Tyr268=
NM_000238.4:c.979T= MANE Select NP_000229.1:p.Tyr327=