{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA021901", "communityStandardTitle": [ "NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1376459", "active": true, "id": "COSM1376459" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1376460", "active": true, "id": "COSM1376460" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76148[alleleid]", "alleleId": 76148, "preferredName": "NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65216", "RCV": [ "RCV000055435", "RCV000468508", "RCV000572428", "RCV003162430", "RCV003996480" ], "variationId": 65216 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-2138135-G-A", "id": "16-2138135-G-A", "variant": "16:2138135 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2138135G>A?assembly=hg19", "id": "chr16:g.2138135G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2088134G>A?assembly=hg38", "id": "chr16:g.2088134G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201206500", "rs": 201206500 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2138135-G-A?dataset=gnomad_r2_1", "id": "16-2138135-G-A", "variant": "16:2138135 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2088134-G-A?dataset=gnomad_r3", "id": "16-2088134-G-A", "variant": "16:2088134 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2088134-G-A?dataset=gnomad_r4", "id": "16-2088134-G-A", "variant": "16:2088134 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2088134, "referenceAllele": "G", "start": 2088133 } ], "hgvs": [ "NC_000016.10:g.2088134G>A", "CM000678.2:g.2088134G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2138135, "referenceAllele": "G", "start": 2138134 } ], "hgvs": [ "NC_000016.9:g.2138135G>A", "CM000678.1:g.2138135G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2078136, "referenceAllele": "G", "start": 2078135 } ], "hgvs": [ "NC_000016.8:g.2078136G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 43829, "referenceAllele": "G", "start": 43828 } ], "hgvs": [ "NG_005895.1:g.43829G>A", "LRG_487:g.43829G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" }, { "coordinates": [ { "allele": "T", "end": 55087, "referenceAllele": "C", "start": 55086 } ], "hgvs": [ "NG_008617.1:g.55087C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001129" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4986, "referenceAllele": "G", "start": 4985 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*3504G>A" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*3504G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "A", "end": 5118, "referenceAllele": "G", "start": 5117 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.5002G>A" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Ala1668Thr", "hgvsWellDefined": "ENSP00000495146.2:p.Ala1668Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "A", "end": 5223, "referenceAllele": "G", "start": 5222 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.5152G>A" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Ala1718Thr", "hgvsWellDefined": "ENSP00000495459.2:p.Ala1718Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "A", "end": 6323, "referenceAllele": "G", "start": 6322 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*5668G>A" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*5668G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "A", "end": 8242, "referenceAllele": "G", "start": 8241 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*7904G>A" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*7904G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "A", "end": 5265, "referenceAllele": "G", "start": 5264 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.5155G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Ala1719Thr", "hgvsWellDefined": "ENSP00000219476.3:p.Ala1719Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.5155G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.5155G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Ala1719Thr" }, "RefSeq": { "hgvs": "NP_000539.2:p.Ala1719Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 5161, "referenceAllele": "G", "start": 5160 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.5086G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Ala1696Thr", "hgvsWellDefined": "ENSP00000344383.4:p.Ala1696Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "A", "end": 5060, "referenceAllele": "G", "start": 5059 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.4954G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Ala1652Thr", "hgvsWellDefined": "ENSP00000384468.2:p.Ala1652Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "A", "end": 5055, "referenceAllele": "G", "start": 5054 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.4987G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Ala1663Thr", "hgvsWellDefined": "ENSP00000454487.1:p.Ala1663Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "A", "end": 1378, "referenceAllele": "G", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.2:c.1378G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760583" }, { "coordinates": [ { "allele": "A", "end": 3037, "referenceAllele": "G", "start": 3036 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.2:n.3037G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760618" }, { "coordinates": [ { "allele": "A", "end": 3809, "referenceAllele": "G", "start": 3808 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.3809G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "A", "end": 5078, "referenceAllele": "G", "start": 5077 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.5026G>A" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Ala1676Thr", "hgvsWellDefined": "ENSP00000495099.1:p.Ala1676Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642791.1:n.752G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766926" }, { "coordinates": [ { "allele": "A", "end": 5011, "referenceAllele": "G", "start": 5010 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.4957G>A" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Ala1653Thr", "hgvsWellDefined": "ENSP00000493846.1:p.Ala1653Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "A", "end": 5132, "referenceAllele": "G", "start": 5131 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.5023G>A" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Ala1675Thr", "hgvsWellDefined": "ENSP00000494514.1:p.Ala1675Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "A", "end": 5066, "referenceAllele": "G", "start": 5065 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.4948G>A" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Ala1650Thr", "hgvsWellDefined": "ENSP00000494747.1:p.Ala1650Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "A", "end": 2803, "referenceAllele": "G", "start": 2802 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643426.1:n.2803G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767277" }, { "coordinates": [ { "allele": "A", "end": 5198, "referenceAllele": "G", "start": 5197 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.5080G>A" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Ala1694Thr", "hgvsWellDefined": "ENSP00000495927.1:p.Ala1694Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "A", "end": 5080, "referenceAllele": "G", "start": 5079 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.5026G>A" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Ala1676Thr", "hgvsWellDefined": "ENSP00000496262.1:p.Ala1676Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "A", "end": 5016, "referenceAllele": "G", "start": 5015 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.4954G>A" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Ala1652Thr", "hgvsWellDefined": "ENSP00000496611.1:p.Ala1652Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "A", "end": 5051, "referenceAllele": "G", "start": 5050 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.4951G>A" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Ala1651Thr", "hgvsWellDefined": "ENSP00000496317.1:p.Ala1651Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "A", "end": 5076, "referenceAllele": "G", "start": 5075 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.5076G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "A", "end": 3239, "referenceAllele": "G", "start": 3238 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.3239G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "A", "end": 5235, "referenceAllele": "G", "start": 5234 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.5149G>A" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Ala1717Thr", "hgvsWellDefined": "ENSP00000495921.1:p.Ala1717Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "A", "end": 3970, "referenceAllele": "G", "start": 3969 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.3970G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "A", "end": 2407, "referenceAllele": "G", "start": 2406 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646674.1:n.2407G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769003" }, { "coordinates": [ { "allele": "A", "end": 2378, "referenceAllele": "G", "start": 2377 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647042.1:n.2378G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769203" }, { "coordinates": [ { "allele": "A", "end": 2268, "referenceAllele": "G", "start": 2267 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647180.1:n.2268G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769277" }, { "coordinates": [ { "allele": "A", "end": 5785, "referenceAllele": "G", "start": 5784 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.5155G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Ala1719Thr", "hgvsWellDefined": "ENSP00000219476.3:p.Ala1719Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "A", "end": 5161, "referenceAllele": "G", "start": 5160 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.5086G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Ala1696Thr", "hgvsWellDefined": "ENSP00000344383.4:p.Ala1696Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "A", "end": 4905, "referenceAllele": "G", "start": 4904 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.4810G>A" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Ala1604Thr", "hgvsWellDefined": "ENSP00000371978.6:p.Ala1604Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "A", "end": 5060, "referenceAllele": "G", "start": 5059 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.4954G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Ala1652Thr", "hgvsWellDefined": "ENSP00000384468.2:p.Ala1652Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "A", "end": 4711, "referenceAllele": "G", "start": 4710 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*4322G>A" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*4322G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "A", "end": 4927, "referenceAllele": "G", "start": 4926 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.4846G>A" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Ala1616Thr", "hgvsWellDefined": "ENSP00000399232.2:p.Ala1616Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "A", "end": 2878, "referenceAllele": "G", "start": 2877 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000497886.5:n.2878G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334013" }, { "coordinates": [ { "allele": "A", "end": 5055, "referenceAllele": "G", "start": 5054 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.4987G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Ala1663Thr", "hgvsWellDefined": "ENSP00000454487.1:p.Ala1663Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "coordinates": [ { "allele": "A", "end": 1337, "referenceAllele": "G", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.1:c.1337G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS246736" }, { "coordinates": [ { "allele": "A", "end": 2270, "referenceAllele": "G", "start": 2269 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.1:n.2270G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381794" }, { "@id": "http://reg.genome.network/allele/PA264641", "coordinates": [ { "allele": "A", "end": 5261, "referenceAllele": "G", "start": 5260 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.5155G>A", "LRG_487t1:c.5155G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ala1719Thr", "hgvsWellDefined": "NP_000539.2:p.Ala1719Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825439453", "coordinates": [ { "allele": "A", "end": 5060, "referenceAllele": "G", "start": 5059 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.4954G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ala1652Thr", "hgvsWellDefined": "NP_001070651.1:p.Ala1652Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825577487", "coordinates": [ { "allele": "A", "end": 5192, "referenceAllele": "G", "start": 5191 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.5086G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ala1696Thr", "hgvsWellDefined": "NP_001107854.1:p.Ala1696Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "A", "end": 5113, "referenceAllele": "G", "start": 5112 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.5026G>A" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Ala1676Thr", "hgvsWellDefined": "XP_005255586.2:p.Ala1676Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "A", "end": 5044, "referenceAllele": "G", "start": 5043 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.4957G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Ala1653Thr", "hgvsWellDefined": "XP_005255588.2:p.Ala1653Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "A", "end": 5296, "referenceAllele": "G", "start": 5295 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.5209G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Ala1737Thr", "hgvsWellDefined": "XP_011520938.1:p.Ala1737Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "A", "end": 5293, "referenceAllele": "G", "start": 5292 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.5206G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Ala1736Thr", "hgvsWellDefined": "XP_011520939.1:p.Ala1736Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "A", "end": 5257, "referenceAllele": "G", "start": 5256 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.5098G>A" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Ala1700Thr", "hgvsWellDefined": "XP_011520940.1:p.Ala1700Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "A", "end": 5167, "referenceAllele": "G", "start": 5166 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.5080G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Ala1694Thr", "hgvsWellDefined": "XP_011520941.1:p.Ala1694Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "A", "end": 5164, "referenceAllele": "G", "start": 5163 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.5077G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Ala1693Thr", "hgvsWellDefined": "XP_011520942.1:p.Ala1693Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "A", "end": 5005, "referenceAllele": "G", "start": 5004 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.4846G>A" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Ala1616Thr", "hgvsWellDefined": "XP_011520943.1:p.Ala1616Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA264641", "coordinates": [ { "allele": "A", "end": 5355, "referenceAllele": "G", "start": 5354 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.5155G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ala1719Thr", "hgvsWellDefined": "NP_000539.2:p.Ala1719Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825439453", "coordinates": [ { "allele": "A", "end": 5154, "referenceAllele": "G", "start": 5153 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.4954G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ala1652Thr", "hgvsWellDefined": "NP_001070651.1:p.Ala1652Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825577487", "coordinates": [ { "allele": "A", "end": 5286, "referenceAllele": "G", "start": 5285 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.5086G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ala1696Thr", "hgvsWellDefined": "NP_001107854.1:p.Ala1696Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827005398", "coordinates": [ { "allele": "A", "end": 5046, "referenceAllele": "G", "start": 5045 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.4846G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Ala1616Thr", "hgvsWellDefined": "NP_001305756.1:p.Ala1616Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827010335", "coordinates": [ { "allele": "A", "end": 4990, "referenceAllele": "G", "start": 4989 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.4810G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Ala1604Thr", "hgvsWellDefined": "NP_001305758.1:p.Ala1604Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827016340", "coordinates": [ { "allele": "A", "end": 4849, "referenceAllele": "G", "start": 4848 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.4423G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Ala1475Thr", "hgvsWellDefined": "NP_001305760.1:p.Ala1475Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA2827020855", "coordinates": [ { "allele": "A", "end": 5055, "referenceAllele": "G", "start": 5054 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.4987G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Ala1663Thr", "hgvsWellDefined": "NP_001305761.1:p.Ala1663Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828095266", "coordinates": [ { "allele": "A", "end": 5157, "referenceAllele": "G", "start": 5156 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.4957G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Ala1653Thr", "hgvsWellDefined": "NP_001350457.1:p.Ala1653Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829983346", "coordinates": [ { "allele": "A", "end": 5136, "referenceAllele": "G", "start": 5135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.5026G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Ala1676Thr", "hgvsWellDefined": "NP_066399.2:p.Ala1676Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "A", "end": 5044, "referenceAllele": "G", "start": 5043 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.4957G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Ala1653Thr", "hgvsWellDefined": "XP_005255588.2:p.Ala1653Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "A", "end": 5296, "referenceAllele": "G", "start": 5295 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.5209G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Ala1737Thr", "hgvsWellDefined": "XP_011520938.1:p.Ala1737Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "A", "end": 5293, "referenceAllele": "G", "start": 5292 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.5206G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Ala1736Thr", "hgvsWellDefined": "XP_011520939.1:p.Ala1736Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "A", "end": 5389, "referenceAllele": "G", "start": 5388 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.5371G>A" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Ala1791Thr", "hgvsWellDefined": "XP_011520940.2:p.Ala1791Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "A", "end": 5167, "referenceAllele": "G", "start": 5166 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.5080G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Ala1694Thr", "hgvsWellDefined": "XP_011520941.1:p.Ala1694Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "A", "end": 5164, "referenceAllele": "G", "start": 5163 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.5077G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Ala1693Thr", "hgvsWellDefined": "XP_011520942.1:p.Ala1693Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "A", "end": 5239, "referenceAllele": "G", "start": 5238 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.5152G>A" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Ala1718Thr", "hgvsWellDefined": "XP_016879104.1:p.Ala1718Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "A", "end": 5110, "referenceAllele": "G", "start": 5109 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.5023G>A" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Ala1675Thr", "hgvsWellDefined": "XP_016879105.1:p.Ala1675Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "A", "end": 5137, "referenceAllele": "G", "start": 5136 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.5119G>A" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Ala1707Thr", "hgvsWellDefined": "XP_016879106.1:p.Ala1707Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "A", "end": 5383, "referenceAllele": "G", "start": 5382 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.3865G>A" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Ala1289Thr", "hgvsWellDefined": "XP_016879107.1:p.Ala1289Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "A", "end": 5041, "referenceAllele": "G", "start": 5040 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.4954G>A" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Ala1652Thr", "hgvsWellDefined": "XP_024306181.1:p.Ala1652Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA264641", "coordinates": [ { "allele": "A", "end": 5265, "referenceAllele": "G", "start": 5264 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.5155G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ala1719Thr", "hgvsWellDefined": "NP_000539.2:p.Ala1719Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.5155G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.5155G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Ala1719Thr" }, "RefSeq": { "hgvs": "NP_000539.2:p.Ala1719Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2828415441", "coordinates": [ { "allele": "A", "end": 5133, "referenceAllele": "G", "start": 5132 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.5023G>A" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Ala1675Thr", "hgvsWellDefined": "NP_001357333.1:p.Ala1675Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828421584", "coordinates": [ { "allele": "A", "end": 5136, "referenceAllele": "G", "start": 5135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.5026G>A" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Ala1676Thr", "hgvsWellDefined": "NP_001357334.1:p.Ala1676Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825439453", "coordinates": [ { "allele": "A", "end": 5064, "referenceAllele": "G", "start": 5063 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.4954G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ala1652Thr", "hgvsWellDefined": "NP_001070651.1:p.Ala1652Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825577487", "coordinates": [ { "allele": "A", "end": 5196, "referenceAllele": "G", "start": 5195 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.5086G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ala1696Thr", "hgvsWellDefined": "NP_001107854.1:p.Ala1696Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827005398", "coordinates": [ { "allele": "A", "end": 4956, "referenceAllele": "G", "start": 4955 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.4846G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Ala1616Thr", "hgvsWellDefined": "NP_001305756.1:p.Ala1616Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827010335", "coordinates": [ { "allele": "A", "end": 4900, "referenceAllele": "G", "start": 4899 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.4810G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Ala1604Thr", "hgvsWellDefined": "NP_001305758.1:p.Ala1604Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827016340", "coordinates": [ { "allele": "A", "end": 4759, "referenceAllele": "G", "start": 4758 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.4423G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Ala1475Thr", "hgvsWellDefined": "NP_001305760.1:p.Ala1475Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA2827020855", "coordinates": [ { "allele": "A", "end": 5055, "referenceAllele": "G", "start": 5054 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.4987G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Ala1663Thr", "hgvsWellDefined": "NP_001305761.1:p.Ala1663Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828095266", "coordinates": [ { "allele": "A", "end": 5067, "referenceAllele": "G", "start": 5066 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.4957G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Ala1653Thr", "hgvsWellDefined": "NP_001350457.1:p.Ala1653Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829983346", "coordinates": [ { "allele": "A", "end": 5136, "referenceAllele": "G", "start": 5135 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.5026G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Ala1676Thr", "hgvsWellDefined": "NP_066399.2:p.Ala1676Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }