Canonical Allele Identifier: CA16618405
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423696
ClinVar RCV Id: RCV000487074
dbSNP Id: rs1064796584
MyVariant Identifiers: chr7:g.150648026_150648027del (hg19) chr7:g.150950938_150950939del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950938_150950939del , CM000669.2:g.150950938_150950939del GRCh38
NC_000007.13:g.150648026_150648027del , CM000669.1:g.150648026_150648027del GRCh37
NC_000007.12:g.150278959_150278960del NCBI36
NG_008916.1:g.31988_31989del , LRG_288:g.31988_31989del

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1425_1426del
ENST00000683359.1:n.251_252del
ENST00000684241.1:n.2960_2961del
ENST00000262186.10:c.2127_2128del MANE Select ENSP00000262186.5:p.Asn709LysfsTer13
ENST00000330883.9:c.1107_1108del ENSP00000328531.4:p.Asn369LysfsTer13
ENST00000262186.9:c.2127_2128del ENSP00000262186.5:p.Asn709LysfsTer13
ENST00000330883.8:c.1107_1108del ENSP00000328531.4:p.Asn369LysfsTer13
ENST00000430723.4:c.1779_1780del ENSP00000387657.4:p.Asn593LysfsTer13
ENST00000461280.1:n.1414_1415del
ENST00000473610.5:n.1759_1760del
ENST00000532957.5:n.2350_2351del
NM_000238.3:c.2127_2128del , LRG_288t1:c.2127_2128del NP_000229.1:p.Asn709LysfsTer13
NM_001204798.1:c.1107_1108del NP_001191727.1:p.Asn369LysfsTer13
NM_172056.2:c.2127_2128del , LRG_288t2:c.2127_2128del NP_742053.1:p.Asn709LysfsTer13
NM_172057.2:c.1107_1108del , LRG_288t3:c.1107_1108del NP_742054.1:p.Asn369LysfsTer13
XM_011516185.1:c.1827_1828del XP_011514487.1:p.Asn609LysfsTer13
XM_011516186.1:c.2127_2128del XP_011514488.1:p.Asn709LysfsTer13
XM_011516185.2:c.1827_1828del XP_011514487.1:p.Asn609LysfsTer13
XM_011516186.3:c.2127_2128del XP_011514488.1:p.Asn709LysfsTer13
XM_017012195.1:c.1977_1978del XP_016867684.1:p.Asn659LysfsTer13
XM_017012196.1:c.1950_1951del XP_016867685.1:p.Asn650LysfsTer13
NM_000238.4:c.2127_2128del MANE Select NP_000229.1:p.Asn709LysfsTer13
NM_001204798.2:c.1107_1108del NP_001191727.1:p.Asn369LysfsTer13
NM_172057.3:c.1107_1108del NP_742054.1:p.Asn369LysfsTer13
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