Canonical Allele Identifier: CA1752409750
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951541T= , CM000669.2:g.150951541T= GRCh38
NC_000007.13:g.150648629T= , CM000669.1:g.150648629T= GRCh37
NC_000007.12:g.150279562T= NCBI36
NG_008916.1:g.31386A= , LRG_288:g.31386A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1150A=
ENST00000684241.1:n.2685A=
ENST00000262186.10:c.1852A= MANE Select ENSP00000262186.5:p.Thr618=
ENST00000330883.9:c.832A= ENSP00000328531.4:p.Thr278=
ENST00000262186.9:c.1852A= ENSP00000262186.5:p.Thr618=
ENST00000330883.8:c.832A= ENSP00000328531.4:p.Thr278=
ENST00000430723.4:c.1504A= ENSP00000387657.4:p.Thr502=
ENST00000461280.1:n.1139A=
ENST00000473610.5:n.1157A=
ENST00000532957.5:n.2075A=
NM_000238.3:c.1852A= , LRG_288t1:c.1852A= NP_000229.1:p.Thr618=
NM_001204798.1:c.832A= NP_001191727.1:p.Thr278=
NM_172056.2:c.1852A= , LRG_288t2:c.1852A= NP_742053.1:p.Thr618=
NM_172057.2:c.832A= , LRG_288t3:c.832A= NP_742054.1:p.Thr278=
XM_011516185.1:c.1552A= XP_011514487.1:p.Thr518=
XM_011516186.1:c.1852A= XP_011514488.1:p.Thr618=
XM_011516185.2:c.1552A= XP_011514487.1:p.Thr518=
XM_011516186.3:c.1852A= XP_011514488.1:p.Thr618=
XM_017012195.1:c.1702A= XP_016867684.1:p.Thr568=
XM_017012196.1:c.1675A= XP_016867685.1:p.Thr559=
NM_000238.4:c.1852A= MANE Select NP_000229.1:p.Thr618=
NM_001204798.2:c.832A= NP_001191727.1:p.Thr278=
NM_172057.3:c.832A= NP_742054.1:p.Thr278=