Canonical Allele Identifier: CA008896
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200616
ClinVar RCV Id: RCV001852294
dbSNP Id: rs794728427
MyVariant Identifiers: chr7:g.150655195_150655213del (hg19) chr7:g.150958107_150958125del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958108_150958126del , CM000669.2:g.150958108_150958126del GRCh38
NC_000007.13:g.150655196_150655214del , CM000669.1:g.150655196_150655214del GRCh37
NC_000007.12:g.150286129_150286147del NCBI36
NG_008916.1:g.24802_24820del , LRG_288:g.24802_24820del

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1683_1701del
ENST00000262186.10:c.850_868del MANE Select ENSP00000262186.5:p.Ser284ProfsTer?
ENST00000262186.9:c.850_868del ENSP00000262186.5:p.Ser284ProfsTer?
ENST00000430723.4:c.502_520del ENSP00000387657.4:p.Ser168ProfsTer?
ENST00000532957.5:n.1073_1091del
NM_000238.3:c.850_868del , LRG_288t1:c.850_868del NP_000229.1:p.Ser284ProfsTer?
NM_172056.2:c.850_868del , LRG_288t2:c.850_868del NP_742053.1:p.Ser284ProfsTer?
XM_011516185.1:c.550_568del XP_011514487.1:p.Ser184ProfsTer?
XM_011516186.1:c.850_868del XP_011514488.1:p.Ser284ProfsTer?
XM_011516185.2:c.550_568del XP_011514487.1:p.Ser184ProfsTer?
XM_011516186.3:c.850_868del XP_011514488.1:p.Ser284ProfsTer?
XM_017012195.1:c.700_718del XP_016867684.1:p.Ser234ProfsTer?
XM_017012196.1:c.673_691del XP_016867685.1:p.Ser225ProfsTer?
NM_000238.4:c.850_868del MANE Select NP_000229.1:p.Ser284ProfsTer?
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