Canonical Allele Identifier: CA16612192
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405341
ClinVar RCV Id: RCV000470097
dbSNP Id: rs1060500661

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951699del , CM000669.2:g.150951699del GRCh38
NC_000007.13:g.150648787del , CM000669.1:g.150648787del GRCh37
NC_000007.12:g.150279720del NCBI36
NG_008916.1:g.31229del , LRG_288:g.31229del

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.993del
ENST00000684241.1:n.2528del
ENST00000262186.10:c.1695del MANE Select ENSP00000262186.5:p.Cys566AlafsTer28
ENST00000330883.9:c.675del ENSP00000328531.4:p.Cys226AlafsTer28
ENST00000262186.9:c.1695del ENSP00000262186.5:p.Cys566AlafsTer28
ENST00000330883.8:c.675del ENSP00000328531.4:p.Cys226AlafsTer28
ENST00000430723.4:c.1347del ENSP00000387657.4:p.Cys450AlafsTer28
ENST00000461280.1:n.982del
ENST00000473610.5:n.1000del
ENST00000532957.5:n.1918del
NM_000238.3:c.1695del , LRG_288t1:c.1695del NP_000229.1:p.Cys566AlafsTer28
NM_001204798.1:c.675del NP_001191727.1:p.Cys226AlafsTer28
NM_172056.2:c.1695del , LRG_288t2:c.1695del NP_742053.1:p.Cys566AlafsTer28
NM_172057.2:c.675del , LRG_288t3:c.675del NP_742054.1:p.Cys226AlafsTer28
XM_011516185.1:c.1395del XP_011514487.1:p.Cys466AlafsTer28
XM_011516186.1:c.1695del XP_011514488.1:p.Cys566AlafsTer28
XM_011516185.2:c.1395del XP_011514487.1:p.Cys466AlafsTer28
XM_011516186.3:c.1695del XP_011514488.1:p.Cys566AlafsTer28
XM_017012195.1:c.1545del XP_016867684.1:p.Cys516AlafsTer28
XM_017012196.1:c.1518del XP_016867685.1:p.Cys507AlafsTer28
NM_000238.4:c.1695del MANE Select NP_000229.1:p.Cys566AlafsTer28
NM_001204798.2:c.675del NP_001191727.1:p.Cys226AlafsTer28
NM_172057.3:c.675del NP_742054.1:p.Cys226AlafsTer28