{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA017108", "communityStandardTitle": [ "NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151240[alleleid]", "alleleId": 151240, "preferredName": "NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141526", "RCV": [ "RCV000130092", "RCV000530366", "RCV004528853" ], "variationId": 141526 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2122886G>A?assembly=hg19", "id": "chr16:g.2122886G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2072885G>A?assembly=hg38", "id": "chr16:g.2072885G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/574205203", "rs": 574205203 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2122886-G-A?dataset=gnomad_r2_1", "id": "16-2122886-G-A", "variant": "16:2122886 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2072885-G-A?dataset=gnomad_r3", "id": "16-2072885-G-A", "variant": "16:2072885 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2072885-G-A?dataset=gnomad_r4", "id": "16-2072885-G-A", "variant": "16:2072885 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2072885, "referenceAllele": "G", "start": 2072884 } ], "hgvs": [ "NC_000016.10:g.2072885G>A", "CM000678.2:g.2072885G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2122886, "referenceAllele": "G", "start": 2122885 } ], "hgvs": [ "NC_000016.9:g.2122886G>A", "CM000678.1:g.2122886G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2062887, "referenceAllele": "G", "start": 2062886 } ], "hgvs": [ "NC_000016.8:g.2062887G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 28580, "referenceAllele": "G", "start": 28579 } ], "hgvs": [ "NG_005895.1:g.28580G>A", "LRG_487:g.28580G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2286, "referenceAllele": "G", "start": 2285 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*804G>A" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*804G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "A", "end": 2418, "referenceAllele": "G", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.2302G>A" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Ala768Thr", "hgvsWellDefined": "ENSP00000495146.2:p.Ala768Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "A", "end": 2328, "referenceAllele": "G", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Ala753Thr", "hgvsWellDefined": "ENSP00000495459.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "A", "end": 2349, "referenceAllele": "G", "start": 2348 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*1694G>A" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*1694G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "A", "end": 2240, "referenceAllele": "G", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*1902G>A" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*1902G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "G", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Ala753Thr", "hgvsWellDefined": "ENSP00000219476.3:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.2257G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.2257G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Ala753Thr" }, "RefSeq": { "hgvs": "NP_000539.2:p.Ala753Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 2332, "referenceAllele": "G", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Ala753Thr", "hgvsWellDefined": "ENSP00000344383.4:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "A", "end": 2363, "referenceAllele": "G", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Ala753Thr", "hgvsWellDefined": "ENSP00000384468.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "G", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000563346.2:n.435G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760393" }, { "coordinates": [ { "allele": "A", "end": 2358, "referenceAllele": "G", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.2290G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Ala764Thr", "hgvsWellDefined": "ENSP00000454487.1:p.Ala764Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "A", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.914G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "A", "end": 2309, "referenceAllele": "G", "start": 2308 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Ala753Thr", "hgvsWellDefined": "ENSP00000495099.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "A", "end": 2311, "referenceAllele": "G", "start": 2310 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Ala753Thr", "hgvsWellDefined": "ENSP00000493846.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "A", "end": 2366, "referenceAllele": "G", "start": 2365 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Ala753Thr", "hgvsWellDefined": "ENSP00000494514.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "A", "end": 2375, "referenceAllele": "G", "start": 2374 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Ala753Thr", "hgvsWellDefined": "ENSP00000494747.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "A", "end": 2556, "referenceAllele": "G", "start": 2555 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643298.1:c.*1759G>A" ], "proteinEffect": { "hgvs": "ENSP00000494393.1:n.*1759G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767200" }, { "coordinates": [ { "allele": "A", "end": 2375, "referenceAllele": "G", "start": 2374 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Ala753Thr", "hgvsWellDefined": "ENSP00000495927.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "A", "end": 2311, "referenceAllele": "G", "start": 2310 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Ala753Thr", "hgvsWellDefined": "ENSP00000496262.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "A", "end": 2319, "referenceAllele": "G", "start": 2318 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Ala753Thr", "hgvsWellDefined": "ENSP00000496611.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "A", "end": 2357, "referenceAllele": "G", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Ala753Thr", "hgvsWellDefined": "ENSP00000496317.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "A", "end": 2250, "referenceAllele": "G", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.2250G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "A", "end": 1249, "referenceAllele": "G", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644847.1:n.1249G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768031" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "G", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.539G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645552.1:n.537G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768423" }, { "coordinates": [ { "allele": "A", "end": 2343, "referenceAllele": "G", "start": 2342 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Ala753Thr", "hgvsWellDefined": "ENSP00000495921.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "G", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.1:c.350G>A" ], "proteinEffect": { "hgvs": "ENSP00000496610.1:n.350G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768889" }, { "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "G", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.1270G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "A", "end": 2887, "referenceAllele": "G", "start": 2886 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Ala753Thr", "hgvsWellDefined": "ENSP00000219476.3:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "A", "end": 2332, "referenceAllele": "G", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Ala753Thr", "hgvsWellDefined": "ENSP00000344383.4:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "A", "end": 2205, "referenceAllele": "G", "start": 2204 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.2110G>A" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Ala704Thr", "hgvsWellDefined": "ENSP00000371978.6:p.Ala704Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "A", "end": 2363, "referenceAllele": "G", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.2257G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Ala753Thr", "hgvsWellDefined": "ENSP00000384468.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "A", "end": 1945, "referenceAllele": "G", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*1556G>A" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*1556G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "A", "end": 2227, "referenceAllele": "G", "start": 2226 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.2146G>A" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Ala716Thr", "hgvsWellDefined": "ENSP00000399232.2:p.Ala716Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000463808.1:n.291G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS307765" }, { "coordinates": [ { "allele": "A", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000563346.1:n.326G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS377360" }, { "coordinates": [ { "allele": "A", "end": 2358, "referenceAllele": "G", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.2290G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Ala764Thr", "hgvsWellDefined": "ENSP00000454487.1:p.Ala764Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "@id": "http://reg.genome.network/allele/PA165691", "coordinates": [ { "allele": "A", "end": 2363, "referenceAllele": "G", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.2257G>A", "LRG_487t1:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ala753Thr", "hgvsWellDefined": "NP_000539.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825436415", "coordinates": [ { "allele": "A", "end": 2363, "referenceAllele": "G", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ala753Thr", "hgvsWellDefined": "NP_001070651.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825574391", "coordinates": [ { "allele": "A", "end": 2363, "referenceAllele": "G", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ala753Thr", "hgvsWellDefined": "NP_001107854.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Ala753Thr", "hgvsWellDefined": "XP_005255586.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Ala753Thr", "hgvsWellDefined": "XP_005255588.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Ala753Thr", "hgvsWellDefined": "XP_011520938.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Ala753Thr", "hgvsWellDefined": "XP_011520939.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "A", "end": 2305, "referenceAllele": "G", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.2146G>A" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Ala716Thr", "hgvsWellDefined": "XP_011520940.1:p.Ala716Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Ala753Thr", "hgvsWellDefined": "XP_011520941.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Ala753Thr", "hgvsWellDefined": "XP_011520942.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "A", "end": 2305, "referenceAllele": "G", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.2146G>A" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Ala716Thr", "hgvsWellDefined": "XP_011520943.1:p.Ala716Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA165691", "coordinates": [ { "allele": "A", "end": 2457, "referenceAllele": "G", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ala753Thr", "hgvsWellDefined": "NP_000539.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825436415", "coordinates": [ { "allele": "A", "end": 2457, "referenceAllele": "G", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ala753Thr", "hgvsWellDefined": "NP_001070651.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825574391", "coordinates": [ { "allele": "A", "end": 2457, "referenceAllele": "G", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ala753Thr", "hgvsWellDefined": "NP_001107854.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827002342", "coordinates": [ { "allele": "A", "end": 2346, "referenceAllele": "G", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.2146G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Ala716Thr", "hgvsWellDefined": "NP_001305756.1:p.Ala716Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827007784", "coordinates": [ { "allele": "A", "end": 2290, "referenceAllele": "G", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.2110G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Ala704Thr", "hgvsWellDefined": "NP_001305758.1:p.Ala704Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827013451", "coordinates": [ { "allele": "A", "end": 2083, "referenceAllele": "G", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.1657G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Ala553Thr", "hgvsWellDefined": "NP_001305760.1:p.Ala553Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA916023847", "coordinates": [ { "allele": "A", "end": 2358, "referenceAllele": "G", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.2290G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Ala764Thr", "hgvsWellDefined": "NP_001305761.1:p.Ala764Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828092150", "coordinates": [ { "allele": "A", "end": 2457, "referenceAllele": "G", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Ala753Thr", "hgvsWellDefined": "NP_001350457.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829976099", "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "G", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Ala753Thr", "hgvsWellDefined": "NP_066399.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Ala753Thr", "hgvsWellDefined": "XP_005255588.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Ala753Thr", "hgvsWellDefined": "XP_011520938.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Ala753Thr", "hgvsWellDefined": "XP_011520939.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "A", "end": 2437, "referenceAllele": "G", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.2419G>A" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Ala807Thr", "hgvsWellDefined": "XP_011520940.2:p.Ala807Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Ala753Thr", "hgvsWellDefined": "XP_011520941.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Ala753Thr", "hgvsWellDefined": "XP_011520942.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Ala753Thr", "hgvsWellDefined": "XP_016879104.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Ala753Thr", "hgvsWellDefined": "XP_016879105.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "A", "end": 2437, "referenceAllele": "G", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.2419G>A" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Ala807Thr", "hgvsWellDefined": "XP_016879106.1:p.Ala807Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "A", "end": 2431, "referenceAllele": "G", "start": 2430 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.913G>A" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Ala305Thr", "hgvsWellDefined": "XP_016879107.1:p.Ala305Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "A", "end": 2344, "referenceAllele": "G", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.2257G>A" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Ala753Thr", "hgvsWellDefined": "XP_024306181.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA165691", "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "G", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ala753Thr", "hgvsWellDefined": "NP_000539.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.2257G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.2257G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Ala753Thr" }, "RefSeq": { "hgvs": "NP_000539.2:p.Ala753Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2828412264", "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "G", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Ala753Thr", "hgvsWellDefined": "NP_001357333.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828418401", "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "G", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Ala753Thr", "hgvsWellDefined": "NP_001357334.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825436415", "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "G", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ala753Thr", "hgvsWellDefined": "NP_001070651.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825574391", "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "G", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ala753Thr", "hgvsWellDefined": "NP_001107854.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827002342", "coordinates": [ { "allele": "A", "end": 2256, "referenceAllele": "G", "start": 2255 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.2146G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Ala716Thr", "hgvsWellDefined": "NP_001305756.1:p.Ala716Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827007784", "coordinates": [ { "allele": "A", "end": 2200, "referenceAllele": "G", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.2110G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Ala704Thr", "hgvsWellDefined": "NP_001305758.1:p.Ala704Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827013451", "coordinates": [ { "allele": "A", "end": 1993, "referenceAllele": "G", "start": 1992 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.1657G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Ala553Thr", "hgvsWellDefined": "NP_001305760.1:p.Ala553Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA916023847", "coordinates": [ { "allele": "A", "end": 2358, "referenceAllele": "G", "start": 2357 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.2290G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Ala764Thr", "hgvsWellDefined": "NP_001305761.1:p.Ala764Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828092150", "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "G", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Ala753Thr", "hgvsWellDefined": "NP_001350457.1:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829976099", "coordinates": [ { "allele": "A", "end": 2367, "referenceAllele": "G", "start": 2366 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.2257G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Ala753Thr", "hgvsWellDefined": "NP_066399.2:p.Ala753Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }