{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA369856065", "communityStandardTitle": [ "NM_000238.4(KCNH2):c.2348C>A (p.Ser783Tyr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2982961[alleleid]", "alleleId": 2982961, "preferredName": "NM_000238.4(KCNH2):c.2348C>A (p.Ser783Tyr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2825728", "RCV": [ "RCV003648296" ], "variationId": 2825728 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150647306G>T?assembly=hg19", "id": "chr7:g.150647306G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150950218G>T?assembly=hg38", "id": "chr7:g.150950218G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2486024984", "rs": 2486024984 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 150950218, "referenceAllele": "G", "start": 150950217 } ], "hgvs": [ "NC_000007.14:g.150950218G>T", "CM000669.2:g.150950218G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 150647306, "referenceAllele": "G", "start": 150647305 } ], "hgvs": [ "NC_000007.13:g.150647306G>T", "CM000669.1:g.150647306G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 150278239, "referenceAllele": "G", "start": 150278238 } ], "hgvs": [ "NC_000007.12:g.150278239G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 32709, "referenceAllele": "C", "start": 32708 } ], "hgvs": [ "NG_008916.1:g.32709C>A", "LRG_288:g.32709C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001295" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1646, "referenceAllele": "C", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000461280.2:n.1646C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825113" }, { "coordinates": [ { "allele": "A", "end": 3181, "referenceAllele": "C", "start": 3180 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000684241.1:n.3181C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829198" }, { "coordinates": [ { "allele": "A", "end": 2756, "referenceAllele": "C", "start": 2755 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.10:c.2348C>A" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Ser783Tyr", "hgvsWellDefined": "ENSP00000262186.5:p.Ser783Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS742291", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.2348C>A" }, "RefSeq": { "hgvs": "NM_000238.4:c.2348C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Ser783Tyr" }, "RefSeq": { "hgvs": "NP_000229.1:p.Ser783Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "C", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.9:c.1328C>A" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Ser443Tyr", "hgvsWellDefined": "ENSP00000328531.4:p.Ser443Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS747106" }, { "coordinates": [ { "allele": "A", "end": 2750, "referenceAllele": "C", "start": 2749 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.9:c.2348C>A" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Ser783Tyr", "hgvsWellDefined": "ENSP00000262186.5:p.Ser783Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247143" }, { "coordinates": [ { "allele": "A", "end": 1731, "referenceAllele": "C", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.8:c.1328C>A" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Ser443Tyr", "hgvsWellDefined": "ENSP00000328531.4:p.Ser443Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247395" }, { "coordinates": [ { "allele": "A", "end": 2329, "referenceAllele": "C", "start": 2328 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000430723.4:c.2000C>A" ], "proteinEffect": { "hgvs": "ENSP00000387657.4:p.Ser667Tyr", "hgvsWellDefined": "ENSP00000387657.4:p.Ser667Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247335" }, { "coordinates": [ { "allele": "A", "end": 1635, "referenceAllele": "C", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000461280.1:n.1635C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS305827" }, { "coordinates": [ { "allele": "A", "end": 1980, "referenceAllele": "C", "start": 1979 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000473610.5:n.1980C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315313" }, { "coordinates": [ { "allele": "A", "end": 2571, "referenceAllele": "C", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000532957.5:n.2571C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357796" }, { "@id": "http://reg.genome.network/allele/PA2825099165", "coordinates": [ { "allele": "A", "end": 2749, "referenceAllele": "C", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.3:c.2348C>A", "LRG_288t1:c.2348C>A" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Ser783Tyr", "hgvsWellDefined": "NP_000229.1:p.Ser783Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006301" }, { "@id": "http://reg.genome.network/allele/PA2826275450", "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_001204798.1:c.1328C>A" ], "proteinEffect": { "hgvs": "NP_001191727.1:p.Ser443Tyr", "hgvsWellDefined": "NP_001191727.1:p.Ser443Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS017691" }, { "@id": "http://reg.genome.network/allele/PA2742019098", "coordinates": [ { "allele": "A", "end": 2749, "referenceAllele": "C", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172056.2:c.2348C>A", "LRG_288t2:c.2348C>A" ], "proteinEffect": { "hgvs": "NP_742053.1:p.Ser783Tyr", "hgvsWellDefined": "NP_742053.1:p.Ser783Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS042625" }, { "@id": "http://reg.genome.network/allele/PA2830340028", "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.2:c.1328C>A", "LRG_288t3:c.1328C>A" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Ser443Tyr", "hgvsWellDefined": "NP_742054.1:p.Ser443Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS042626" }, { "coordinates": [ { "allele": "A", "end": 2063, "referenceAllele": "C", "start": 2062 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.1:c.2048C>A" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Ser683Tyr", "hgvsWellDefined": "XP_011514487.1:p.Ser683Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS083388" }, { "coordinates": [ { "allele": "A", "end": 2736, "referenceAllele": "C", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.1:c.2348C>A" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Ser783Tyr", "hgvsWellDefined": "XP_011514488.1:p.Ser783Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS083389" }, { "coordinates": [ { "allele": "A", "end": 2160, "referenceAllele": "C", "start": 2159 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.2:c.2048C>A" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Ser683Tyr", "hgvsWellDefined": "XP_011514487.1:p.Ser683Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS544060" }, { "coordinates": [ { "allele": "A", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.3:c.2348C>A" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Ser783Tyr", "hgvsWellDefined": "XP_011514488.1:p.Ser783Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS544061" }, { "coordinates": [ { "allele": "A", "end": 2830, "referenceAllele": "C", "start": 2829 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012195.1:c.2198C>A" ], "proteinEffect": { "hgvs": "XP_016867684.1:p.Ser733Tyr", "hgvsWellDefined": "XP_016867684.1:p.Ser733Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS565851" }, { "coordinates": [ { "allele": "A", "end": 2290, "referenceAllele": "C", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012196.1:c.2171C>A" ], "proteinEffect": { "hgvs": "XP_016867685.1:p.Ser724Tyr", "hgvsWellDefined": "XP_016867685.1:p.Ser724Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS565852" }, { "@id": "http://reg.genome.network/allele/PA2825099165", "coordinates": [ { "allele": "A", "end": 2756, "referenceAllele": "C", "start": 2755 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.4:c.2348C>A" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Ser783Tyr", "hgvsWellDefined": "NP_000229.1:p.Ser783Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS674756", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.2348C>A" }, "RefSeq": { "hgvs": "NM_000238.4:c.2348C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Ser783Tyr" }, "RefSeq": { "hgvs": "NP_000229.1:p.Ser783Tyr" } } } }, { "@id": "http://reg.genome.network/allele/PA2826275450", "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "C", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_001204798.2:c.1328C>A" ], "proteinEffect": { "hgvs": "NP_001191727.1:p.Ser443Tyr", "hgvsWellDefined": "NP_001191727.1:p.Ser443Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS679869" }, { "@id": "http://reg.genome.network/allele/PA2830340028", "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "C", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.3:c.1328C>A" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Ser443Tyr", "hgvsWellDefined": "NP_742054.1:p.Ser443Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS729522" } ], "type": "nucleotide" }