Canonical Allele Identifier: CA031693
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 979128
dbSNP Id: rs769076001

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950234C>T , CM000669.2:g.150950234C>T GRCh38
NC_000007.13:g.150647322C>T , CM000669.1:g.150647322C>T GRCh37
NC_000007.12:g.150278255C>T NCBI36
NG_008916.1:g.32693G>A , LRG_288:g.32693G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1630G>A
ENST00000684241.1:n.3165G>A
ENST00000262186.10:c.2332G>A MANE Select ENSP00000262186.5:p.Ala778Thr
ENST00000330883.9:c.1312G>A ENSP00000328531.4:p.Ala438Thr
ENST00000262186.9:c.2332G>A ENSP00000262186.5:p.Ala778Thr
ENST00000330883.8:c.1312G>A ENSP00000328531.4:p.Ala438Thr
ENST00000430723.4:c.1984G>A ENSP00000387657.4:p.Ala662Thr
ENST00000461280.1:n.1619G>A
ENST00000473610.5:n.1964G>A
ENST00000532957.5:n.2555G>A
NM_000238.3:c.2332G>A , LRG_288t1:c.2332G>A NP_000229.1:p.Ala778Thr
NM_001204798.1:c.1312G>A NP_001191727.1:p.Ala438Thr
NM_172056.2:c.2332G>A , LRG_288t2:c.2332G>A NP_742053.1:p.Ala778Thr
NM_172057.2:c.1312G>A , LRG_288t3:c.1312G>A NP_742054.1:p.Ala438Thr
XM_011516185.1:c.2032G>A XP_011514487.1:p.Ala678Thr
XM_011516186.1:c.2332G>A XP_011514488.1:p.Ala778Thr
XM_011516185.2:c.2032G>A XP_011514487.1:p.Ala678Thr
XM_011516186.3:c.2332G>A XP_011514488.1:p.Ala778Thr
XM_017012195.1:c.2182G>A XP_016867684.1:p.Ala728Thr
XM_017012196.1:c.2155G>A XP_016867685.1:p.Ala719Thr
NM_000238.4:c.2332G>A MANE Select NP_000229.1:p.Ala778Thr
NM_001204798.2:c.1312G>A NP_001191727.1:p.Ala438Thr
NM_172057.3:c.1312G>A NP_742054.1:p.Ala438Thr