Canonical Allele Identifier: CA1752416846
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957439T= , CM000669.2:g.150957439T= GRCh38
NC_000007.13:g.150654527T= , CM000669.1:g.150654527T= GRCh37
NC_000007.12:g.150285460T= NCBI36
NG_008916.1:g.25488A= , LRG_288:g.25488A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1813A=
ENST00000262186.10:c.980A= MANE Select ENSP00000262186.5:p.Tyr327=
ENST00000262186.9:c.980A= ENSP00000262186.5:p.Tyr327=
ENST00000430723.4:c.632A= ENSP00000387657.4:p.Tyr211=
ENST00000532957.5:n.1203A=
NM_000238.3:c.980A= , LRG_288t1:c.980A= NP_000229.1:p.Tyr327=
NM_172056.2:c.980A= , LRG_288t2:c.980A= NP_742053.1:p.Tyr327=
XM_011516185.1:c.680A= XP_011514487.1:p.Tyr227=
XM_011516186.1:c.980A= XP_011514488.1:p.Tyr327=
XM_011516185.2:c.680A= XP_011514487.1:p.Tyr227=
XM_011516186.3:c.980A= XP_011514488.1:p.Tyr327=
XM_017012195.1:c.830A= XP_016867684.1:p.Tyr277=
XM_017012196.1:c.803A= XP_016867685.1:p.Tyr268=
NM_000238.4:c.980A= MANE Select NP_000229.1:p.Tyr327=