{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA006003", "communityStandardTitle": [ "NM_000238.4(KCNH2):c.1916T>A (p.Ile639Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197244[alleleid]", "alleleId": 197244, "preferredName": "NM_000238.4(KCNH2):c.1916T>A (p.Ile639Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2768610", "RCV": [ "RCV003532485" ], "variationId": 2768610 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150648565A>T?assembly=hg19", "id": "chr7:g.150648565A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150951477A>T?assembly=hg38", "id": "chr7:g.150951477A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794728379", "rs": 794728379 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 150951477, "referenceAllele": "A", "start": 150951476 } ], "hgvs": [ "NC_000007.14:g.150951477A>T", "CM000669.2:g.150951477A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 150648565, "referenceAllele": "A", "start": 150648564 } ], "hgvs": [ "NC_000007.13:g.150648565A>T", "CM000669.1:g.150648565A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 150279498, "referenceAllele": "A", "start": 150279497 } ], "hgvs": [ "NC_000007.12:g.150279498A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 31450, "referenceAllele": "T", "start": 31449 } ], "hgvs": [ "NG_008916.1:g.31450T>A", "LRG_288:g.31450T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001295" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1214, "referenceAllele": "T", "start": 1213 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000461280.2:n.1214T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825113" }, { "coordinates": [ { "allele": "A", "end": 40, "referenceAllele": "T", "start": 39 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000683359.1:n.40T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828339" }, { "coordinates": [ { "allele": "A", "end": 2749, "referenceAllele": "T", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000684241.1:n.2749T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829198" }, { "coordinates": [ { "allele": "A", "end": 2324, "referenceAllele": "T", "start": 2323 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.10:c.1916T>A" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Ile639Asn", "hgvsWellDefined": "ENSP00000262186.5:p.Ile639Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS742291", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.1916T>A" }, "RefSeq": { "hgvs": "NM_000238.4:c.1916T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Ile639Asn" }, "RefSeq": { "hgvs": "NP_000229.1:p.Ile639Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 1197, "referenceAllele": "T", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.9:c.896T>A" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Ile299Asn", "hgvsWellDefined": "ENSP00000328531.4:p.Ile299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS747106" }, { "coordinates": [ { "allele": "A", "end": 2318, "referenceAllele": "T", "start": 2317 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.9:c.1916T>A" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Ile639Asn", "hgvsWellDefined": "ENSP00000262186.5:p.Ile639Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247143" }, { "coordinates": [ { "allele": "A", "end": 1299, "referenceAllele": "T", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.8:c.896T>A" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Ile299Asn", "hgvsWellDefined": "ENSP00000328531.4:p.Ile299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247395" }, { "coordinates": [ { "allele": "A", "end": 1897, "referenceAllele": "T", "start": 1896 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000430723.4:c.1568T>A" ], "proteinEffect": { "hgvs": "ENSP00000387657.4:p.Ile523Asn", "hgvsWellDefined": "ENSP00000387657.4:p.Ile523Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247335" }, { "coordinates": [ { "allele": "A", "end": 1203, "referenceAllele": "T", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000461280.1:n.1203T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS305827" }, { "coordinates": [ { "allele": "A", "end": 1221, "referenceAllele": "T", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000473610.5:n.1221T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315313" }, { "coordinates": [ { "allele": "A", "end": 2139, "referenceAllele": "T", "start": 2138 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000532957.5:n.2139T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357796" }, { "@id": "http://reg.genome.network/allele/PA304842", "coordinates": [ { "allele": "A", "end": 2317, "referenceAllele": "T", "start": 2316 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.3:c.1916T>A", "LRG_288t1:c.1916T>A" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Ile639Asn", "hgvsWellDefined": "NP_000229.1:p.Ile639Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006301" }, { "@id": "http://reg.genome.network/allele/PA2826275229", "coordinates": [ { "allele": "A", "end": 1222, "referenceAllele": "T", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_001204798.1:c.896T>A" ], "proteinEffect": { "hgvs": "NP_001191727.1:p.Ile299Asn", "hgvsWellDefined": "NP_001191727.1:p.Ile299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS017691" }, { "@id": "http://reg.genome.network/allele/PA304843", "coordinates": [ { "allele": "A", "end": 2317, "referenceAllele": "T", "start": 2316 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172056.2:c.1916T>A", "LRG_288t2:c.1916T>A" ], "proteinEffect": { "hgvs": "NP_742053.1:p.Ile639Asn", "hgvsWellDefined": "NP_742053.1:p.Ile639Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS042625" }, { "@id": "http://reg.genome.network/allele/PA304841", "coordinates": [ { "allele": "A", "end": 1222, "referenceAllele": "T", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.2:c.896T>A", "LRG_288t3:c.896T>A" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Ile299Asn", "hgvsWellDefined": "NP_742054.1:p.Ile299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS042626" }, { "coordinates": [ { "allele": "A", "end": 1631, "referenceAllele": "T", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.1:c.1616T>A" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Ile539Asn", "hgvsWellDefined": "XP_011514487.1:p.Ile539Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS083388" }, { "coordinates": [ { "allele": "A", "end": 2304, "referenceAllele": "T", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.1:c.1916T>A" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Ile639Asn", "hgvsWellDefined": "XP_011514488.1:p.Ile639Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS083389" }, { "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "T", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.2:c.1616T>A" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Ile539Asn", "hgvsWellDefined": "XP_011514487.1:p.Ile539Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS544060" }, { "coordinates": [ { "allele": "A", "end": 1990, "referenceAllele": "T", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.3:c.1916T>A" ], "proteinEffect": { "hgvs": "XP_011514488.1:p.Ile639Asn", "hgvsWellDefined": "XP_011514488.1:p.Ile639Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS544061" }, { "coordinates": [ { "allele": "A", "end": 2398, "referenceAllele": "T", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012195.1:c.1766T>A" ], "proteinEffect": { "hgvs": "XP_016867684.1:p.Ile589Asn", "hgvsWellDefined": "XP_016867684.1:p.Ile589Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS565851" }, { "coordinates": [ { "allele": "A", "end": 1858, "referenceAllele": "T", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012196.1:c.1739T>A" ], "proteinEffect": { "hgvs": "XP_016867685.1:p.Ile580Asn", "hgvsWellDefined": "XP_016867685.1:p.Ile580Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS565852" }, { "@id": "http://reg.genome.network/allele/PA304842", "coordinates": [ { "allele": "A", "end": 2324, "referenceAllele": "T", "start": 2323 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.4:c.1916T>A" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Ile639Asn", "hgvsWellDefined": "NP_000229.1:p.Ile639Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674756", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.1916T>A" }, "RefSeq": { "hgvs": "NM_000238.4:c.1916T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Ile639Asn" }, "RefSeq": { "hgvs": "NP_000229.1:p.Ile639Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2826275229", "coordinates": [ { "allele": "A", "end": 1197, "referenceAllele": "T", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_001204798.2:c.896T>A" ], "proteinEffect": { "hgvs": "NP_001191727.1:p.Ile299Asn", "hgvsWellDefined": "NP_001191727.1:p.Ile299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS679869" }, { "@id": "http://reg.genome.network/allele/PA304841", "coordinates": [ { "allele": "A", "end": 1197, "referenceAllele": "T", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.3:c.896T>A" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Ile299Asn", "hgvsWellDefined": "NP_742054.1:p.Ile299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS729522" } ], "type": "nucleotide" }