Canonical Allele Identifier: CA369860181
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952760C>T , CM000669.2:g.150952760C>T GRCh38
NC_000007.13:g.150649848C>T , CM000669.1:g.150649848C>T GRCh37
NC_000007.12:g.150280781C>T NCBI36
NG_008916.1:g.30167G>A , LRG_288:g.30167G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.520G>A
ENST00000684116.1:n.115G>A
ENST00000684241.1:n.2055G>A
ENST00000262186.10:c.1222G>A MANE Select ENSP00000262186.5:p.Ala408Thr
ENST00000330883.9:c.202G>A ENSP00000328531.4:p.Ala68Thr
ENST00000262186.9:c.1222G>A ENSP00000262186.5:p.Ala408Thr
ENST00000330883.8:c.202G>A ENSP00000328531.4:p.Ala68Thr
ENST00000430723.4:c.874G>A ENSP00000387657.4:p.Ala292Thr
ENST00000461280.1:n.509G>A
ENST00000473610.5:n.527G>A
ENST00000532957.5:n.1445G>A
NM_000238.3:c.1222G>A , LRG_288t1:c.1222G>A NP_000229.1:p.Ala408Thr
NM_001204798.1:c.202G>A NP_001191727.1:p.Ala68Thr
NM_172056.2:c.1222G>A , LRG_288t2:c.1222G>A NP_742053.1:p.Ala408Thr
NM_172057.2:c.202G>A , LRG_288t3:c.202G>A NP_742054.1:p.Ala68Thr
XM_011516185.1:c.922G>A XP_011514487.1:p.Ala308Thr
XM_011516186.1:c.1222G>A XP_011514488.1:p.Ala408Thr
XM_011516185.2:c.922G>A XP_011514487.1:p.Ala308Thr
XM_011516186.3:c.1222G>A XP_011514488.1:p.Ala408Thr
XM_017012195.1:c.1072G>A XP_016867684.1:p.Ala358Thr
XM_017012196.1:c.1045G>A XP_016867685.1:p.Ala349Thr
NM_000238.4:c.1222G>A MANE Select NP_000229.1:p.Ala408Thr
NM_001204798.2:c.202G>A NP_001191727.1:p.Ala68Thr
NM_172057.3:c.202G>A NP_742054.1:p.Ala68Thr