Canonical Allele Identifier: CA1752418436
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958329T= , CM000669.2:g.150958329T= GRCh38
NC_000007.13:g.150655417T= , CM000669.1:g.150655417T= GRCh37
NC_000007.12:g.150286350T= NCBI36
NG_008916.1:g.24598A= , LRG_288:g.24598A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1479A=
ENST00000262186.10:c.646A= MANE Select ENSP00000262186.5:p.Thr216=
ENST00000262186.9:c.646A= ENSP00000262186.5:p.Thr216=
ENST00000430723.4:c.298A= ENSP00000387657.4:p.Thr100=
ENST00000532957.5:n.869A=
NM_000238.3:c.646A= , LRG_288t1:c.646A= NP_000229.1:p.Thr216=
NM_172056.2:c.646A= , LRG_288t2:c.646A= NP_742053.1:p.Thr216=
XM_011516185.1:c.346A= XP_011514487.1:p.Thr116=
XM_011516186.1:c.646A= XP_011514488.1:p.Thr216=
XM_011516185.2:c.346A= XP_011514487.1:p.Thr116=
XM_011516186.3:c.646A= XP_011514488.1:p.Thr216=
XM_017012195.1:c.496A= XP_016867684.1:p.Thr166=
XM_017012196.1:c.469A= XP_016867685.1:p.Thr157=
NM_000238.4:c.646A= MANE Select NP_000229.1:p.Thr216=