Canonical Allele Identifier: CA1752410266
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951650T= , CM000669.2:g.150951650T= GRCh38
NC_000007.13:g.150648738T= , CM000669.1:g.150648738T= GRCh37
NC_000007.12:g.150279671T= NCBI36
NG_008916.1:g.31277A= , LRG_288:g.31277A=

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1041A=
ENST00000684241.1:n.2576A=
ENST00000262186.10:c.1743A= MANE Select ENSP00000262186.5:p.Ser581=
ENST00000330883.9:c.723A= ENSP00000328531.4:p.Ser241=
ENST00000262186.9:c.1743A= ENSP00000262186.5:p.Ser581=
ENST00000330883.8:c.723A= ENSP00000328531.4:p.Ser241=
ENST00000430723.4:c.1395A= ENSP00000387657.4:p.Ser465=
ENST00000461280.1:n.1030A=
ENST00000473610.5:n.1048A=
ENST00000532957.5:n.1966A=
NM_000238.3:c.1743A= , LRG_288t1:c.1743A= NP_000229.1:p.Ser581=
NM_001204798.1:c.723A= NP_001191727.1:p.Ser241=
NM_172056.2:c.1743A= , LRG_288t2:c.1743A= NP_742053.1:p.Ser581=
NM_172057.2:c.723A= , LRG_288t3:c.723A= NP_742054.1:p.Ser241=
XM_011516185.1:c.1443A= XP_011514487.1:p.Ser481=
XM_011516186.1:c.1743A= XP_011514488.1:p.Ser581=
XM_011516185.2:c.1443A= XP_011514487.1:p.Ser481=
XM_011516186.3:c.1743A= XP_011514488.1:p.Ser581=
XM_017012195.1:c.1593A= XP_016867684.1:p.Ser531=
XM_017012196.1:c.1566A= XP_016867685.1:p.Ser522=
NM_000238.4:c.1743A= MANE Select NP_000229.1:p.Ser581=
NM_001204798.2:c.723A= NP_001191727.1:p.Ser241=
NM_172057.3:c.723A= NP_742054.1:p.Ser241=