{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA394304392", "communityStandardTitle": [ "NM_000548.5(TSC2):c.4581T>A (p.Phe1527Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=644338[alleleid]", "alleleId": 644338, "preferredName": "NM_000548.5(TSC2):c.4581T>A (p.Phe1527Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648504", "RCV": [ "RCV000803252", "RCV003166226" ], "variationId": 648504 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2135242T>A?assembly=hg19", "id": "chr16:g.2135242T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2085241T>A?assembly=hg38", "id": "chr16:g.2085241T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/745860116", "rs": 745860116 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2085241-T-A?dataset=gnomad_r4", "id": "16-2085241-T-A", "variant": "16:2085241 T / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2085241, "referenceAllele": "T", "start": 2085240 } ], "hgvs": [ "NC_000016.10:g.2085241T>A", "CM000678.2:g.2085241T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2135242, "referenceAllele": "T", "start": 2135241 } ], "hgvs": [ "NC_000016.9:g.2135242T>A", "CM000678.1:g.2135242T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2075243, "referenceAllele": "T", "start": 2075242 } ], "hgvs": [ "NC_000016.8:g.2075243T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 40936, "referenceAllele": "T", "start": 40935 } ], "hgvs": [ "NG_005895.1:g.40936T>A", "LRG_487:g.40936T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4412, "referenceAllele": "T", "start": 4411 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*2930T>A" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*2930T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "A", "end": 4544, "referenceAllele": "T", "start": 4543 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.4428T>A" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Phe1476Leu", "hgvsWellDefined": "ENSP00000495146.2:p.Phe1476Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "A", "end": 4649, "referenceAllele": "T", "start": 4648 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.4578T>A" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Phe1526Leu", "hgvsWellDefined": "ENSP00000495459.2:p.Phe1526Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "A", "end": 5616, "referenceAllele": "T", "start": 5615 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*4961T>A" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*4961T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "A", "end": 7668, "referenceAllele": "T", "start": 7667 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*7330T>A" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*7330T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "A", "end": 4691, "referenceAllele": "T", "start": 4690 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.4581T>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Phe1527Leu", "hgvsWellDefined": "ENSP00000219476.3:p.Phe1527Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4581T>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.4581T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Phe1527Leu" }, "RefSeq": { "hgvs": "NP_000539.2:p.Phe1527Leu" } } } }, { "coordinates": [ { "allele": "A", "end": 4587, "referenceAllele": "T", "start": 4586 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.4512T>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Phe1504Leu", "hgvsWellDefined": "ENSP00000344383.4:p.Phe1504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "A", "end": 4486, "referenceAllele": "T", "start": 4485 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.4380T>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Phe1460Leu", "hgvsWellDefined": "ENSP00000384468.2:p.Phe1460Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "A", "end": 4481, "referenceAllele": "T", "start": 4480 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.4413T>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Phe1471Leu", "hgvsWellDefined": "ENSP00000454487.1:p.Phe1471Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "A", "end": 804, "referenceAllele": "T", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.2:c.804T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760583" }, { "coordinates": [ { "allele": "A", "end": 2463, "referenceAllele": "T", "start": 2462 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.2:n.2463T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760618" }, { "coordinates": [ { "allele": "A", "end": 3235, "referenceAllele": "T", "start": 3234 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.3235T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "A", "end": 4504, "referenceAllele": "T", "start": 4503 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.4452T>A" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Phe1484Leu", "hgvsWellDefined": "ENSP00000495099.1:p.Phe1484Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "T", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642728.1:n.763T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766898" }, { "coordinates": [ { "allele": "A", "end": 178, "referenceAllele": "T", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642791.1:n.178T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766926" }, { "coordinates": [ { "allele": "A", "end": 4437, "referenceAllele": "T", "start": 4436 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.4383T>A" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Phe1461Leu", "hgvsWellDefined": "ENSP00000493846.1:p.Phe1461Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "A", "end": 4558, "referenceAllele": "T", "start": 4557 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.4449T>A" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Phe1483Leu", "hgvsWellDefined": "ENSP00000494514.1:p.Phe1483Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "A", "end": 4492, "referenceAllele": "T", "start": 4491 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.4374T>A" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Phe1458Leu", "hgvsWellDefined": "ENSP00000494747.1:p.Phe1458Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "T", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643177.1:n.595T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767136" }, { "coordinates": [ { "allele": "A", "end": 2229, "referenceAllele": "T", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643426.1:n.2229T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767277" }, { "coordinates": [ { "allele": "A", "end": 4624, "referenceAllele": "T", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.4506T>A" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Phe1502Leu", "hgvsWellDefined": "ENSP00000495927.1:p.Phe1502Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "A", "end": 4506, "referenceAllele": "T", "start": 4505 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.4452T>A" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Phe1484Leu", "hgvsWellDefined": "ENSP00000496262.1:p.Phe1484Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "A", "end": 63, "referenceAllele": "T", "start": 62 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644278.1:n.63T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767738" }, { "coordinates": [ { "allele": "A", "end": 4442, "referenceAllele": "T", "start": 4441 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.4380T>A" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Phe1460Leu", "hgvsWellDefined": "ENSP00000496611.1:p.Phe1460Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "A", "end": 4477, "referenceAllele": "T", "start": 4476 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.4377T>A" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Phe1459Leu", "hgvsWellDefined": "ENSP00000496317.1:p.Phe1459Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "A", "end": 4502, "referenceAllele": "T", "start": 4501 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.4502T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "A", "end": 2665, "referenceAllele": "T", "start": 2664 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.2665T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "A", "end": 4661, "referenceAllele": "T", "start": 4660 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.4575T>A" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Phe1525Leu", "hgvsWellDefined": "ENSP00000495921.1:p.Phe1525Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "A", "end": 3396, "referenceAllele": "T", "start": 3395 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.3396T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "A", "end": 1833, "referenceAllele": "T", "start": 1832 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646674.1:n.1833T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769003" }, { "coordinates": [ { "allele": "A", "end": 1804, "referenceAllele": "T", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647042.1:n.1804T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769203" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "T", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647180.1:n.1694T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769277" }, { "coordinates": [ { "allele": "A", "end": 5211, "referenceAllele": "T", "start": 5210 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.4581T>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Phe1527Leu", "hgvsWellDefined": "ENSP00000219476.3:p.Phe1527Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "A", "end": 4587, "referenceAllele": "T", "start": 4586 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.4512T>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Phe1504Leu", "hgvsWellDefined": "ENSP00000344383.4:p.Phe1504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "A", "end": 4331, "referenceAllele": "T", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.4236T>A" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Phe1412Leu", "hgvsWellDefined": "ENSP00000371978.6:p.Phe1412Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "A", "end": 4486, "referenceAllele": "T", "start": 4485 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.4380T>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Phe1460Leu", "hgvsWellDefined": "ENSP00000384468.2:p.Phe1460Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "A", "end": 4137, "referenceAllele": "T", "start": 4136 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*3748T>A" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*3748T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "A", "end": 4353, "referenceAllele": "T", "start": 4352 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.4272T>A" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Phe1424Leu", "hgvsWellDefined": "ENSP00000399232.2:p.Phe1424Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "A", "end": 2339, "referenceAllele": "T", "start": 2338 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000497886.5:n.2339T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334013" }, { "coordinates": [ { "allele": "A", "end": 4481, "referenceAllele": "T", "start": 4480 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.4413T>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Phe1471Leu", "hgvsWellDefined": "ENSP00000454487.1:p.Phe1471Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "T", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.1:c.763T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS246736" }, { "coordinates": [ { "allele": "A", "end": 1696, "referenceAllele": "T", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.1:n.1696T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381794" }, { "@id": "http://reg.genome.network/allele/PA262687", "coordinates": [ { "allele": "A", "end": 4687, "referenceAllele": "T", "start": 4686 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.4581T>A", "LRG_487t1:c.4581T>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Phe1527Leu", "hgvsWellDefined": "NP_000539.2:p.Phe1527Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825438765", "coordinates": [ { "allele": "A", "end": 4486, "referenceAllele": "T", "start": 4485 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.4380T>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Phe1460Leu", "hgvsWellDefined": "NP_001070651.1:p.Phe1460Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825576779", "coordinates": [ { "allele": "A", "end": 4618, "referenceAllele": "T", "start": 4617 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.4512T>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Phe1504Leu", "hgvsWellDefined": "NP_001107854.1:p.Phe1504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "A", "end": 4539, "referenceAllele": "T", "start": 4538 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.4452T>A" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Phe1484Leu", "hgvsWellDefined": "XP_005255586.2:p.Phe1484Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "A", "end": 4470, "referenceAllele": "T", "start": 4469 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.4383T>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Phe1461Leu", "hgvsWellDefined": "XP_005255588.2:p.Phe1461Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "A", "end": 4722, "referenceAllele": "T", "start": 4721 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.4635T>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Phe1545Leu", "hgvsWellDefined": "XP_011520938.1:p.Phe1545Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "A", "end": 4719, "referenceAllele": "T", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.4632T>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Phe1544Leu", "hgvsWellDefined": "XP_011520939.1:p.Phe1544Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "A", "end": 4683, "referenceAllele": "T", "start": 4682 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.4524T>A" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Phe1508Leu", "hgvsWellDefined": "XP_011520940.1:p.Phe1508Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "A", "end": 4593, "referenceAllele": "T", "start": 4592 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.4506T>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Phe1502Leu", "hgvsWellDefined": "XP_011520941.1:p.Phe1502Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "A", "end": 4590, "referenceAllele": "T", "start": 4589 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.4503T>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Phe1501Leu", "hgvsWellDefined": "XP_011520942.1:p.Phe1501Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "A", "end": 4431, "referenceAllele": "T", "start": 4430 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.4272T>A" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Phe1424Leu", "hgvsWellDefined": "XP_011520943.1:p.Phe1424Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA262687", "coordinates": [ { "allele": "A", "end": 4781, "referenceAllele": "T", "start": 4780 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.4581T>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Phe1527Leu", "hgvsWellDefined": "NP_000539.2:p.Phe1527Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825438765", "coordinates": [ { "allele": "A", "end": 4580, "referenceAllele": "T", "start": 4579 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.4380T>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Phe1460Leu", "hgvsWellDefined": "NP_001070651.1:p.Phe1460Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825576779", "coordinates": [ { "allele": "A", "end": 4712, "referenceAllele": "T", "start": 4711 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.4512T>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Phe1504Leu", "hgvsWellDefined": "NP_001107854.1:p.Phe1504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827004688", "coordinates": [ { "allele": "A", "end": 4472, "referenceAllele": "T", "start": 4471 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.4272T>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Phe1424Leu", "hgvsWellDefined": "NP_001305756.1:p.Phe1424Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827009763", "coordinates": [ { "allele": "A", "end": 4416, "referenceAllele": "T", "start": 4415 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.4236T>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Phe1412Leu", "hgvsWellDefined": "NP_001305758.1:p.Phe1412Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827015633", "coordinates": [ { "allele": "A", "end": 4275, "referenceAllele": "T", "start": 4274 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.3849T>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Phe1283Leu", "hgvsWellDefined": "NP_001305760.1:p.Phe1283Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA2827020144", "coordinates": [ { "allele": "A", "end": 4481, "referenceAllele": "T", "start": 4480 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.4413T>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Phe1471Leu", "hgvsWellDefined": "NP_001305761.1:p.Phe1471Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828094559", "coordinates": [ { "allele": "A", "end": 4583, "referenceAllele": "T", "start": 4582 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.4383T>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Phe1461Leu", "hgvsWellDefined": "NP_001350457.1:p.Phe1461Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829981647", "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.4452T>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Phe1484Leu", "hgvsWellDefined": "NP_066399.2:p.Phe1484Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "A", "end": 4470, "referenceAllele": "T", "start": 4469 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.4383T>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Phe1461Leu", "hgvsWellDefined": "XP_005255588.2:p.Phe1461Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "A", "end": 4722, "referenceAllele": "T", "start": 4721 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.4635T>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Phe1545Leu", "hgvsWellDefined": "XP_011520938.1:p.Phe1545Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "A", "end": 4719, "referenceAllele": "T", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.4632T>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Phe1544Leu", "hgvsWellDefined": "XP_011520939.1:p.Phe1544Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "A", "end": 4815, "referenceAllele": "T", "start": 4814 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.4797T>A" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Phe1599Leu", "hgvsWellDefined": "XP_011520940.2:p.Phe1599Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "A", "end": 4593, "referenceAllele": "T", "start": 4592 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.4506T>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Phe1502Leu", "hgvsWellDefined": "XP_011520941.1:p.Phe1502Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "A", "end": 4590, "referenceAllele": "T", "start": 4589 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.4503T>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Phe1501Leu", "hgvsWellDefined": "XP_011520942.1:p.Phe1501Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "A", "end": 4665, "referenceAllele": "T", "start": 4664 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.4578T>A" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Phe1526Leu", "hgvsWellDefined": "XP_016879104.1:p.Phe1526Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "A", "end": 4536, "referenceAllele": "T", "start": 4535 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.4449T>A" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Phe1483Leu", "hgvsWellDefined": "XP_016879105.1:p.Phe1483Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "A", "end": 4563, "referenceAllele": "T", "start": 4562 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.4545T>A" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Phe1515Leu", "hgvsWellDefined": "XP_016879106.1:p.Phe1515Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "A", "end": 4809, "referenceAllele": "T", "start": 4808 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.3291T>A" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Phe1097Leu", "hgvsWellDefined": "XP_016879107.1:p.Phe1097Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "A", "end": 4467, "referenceAllele": "T", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.4380T>A" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Phe1460Leu", "hgvsWellDefined": "XP_024306181.1:p.Phe1460Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA262687", "coordinates": [ { "allele": "A", "end": 4691, "referenceAllele": "T", "start": 4690 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.4581T>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Phe1527Leu", "hgvsWellDefined": "NP_000539.2:p.Phe1527Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4581T>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.4581T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Phe1527Leu" }, "RefSeq": { "hgvs": "NP_000539.2:p.Phe1527Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2828414734", "coordinates": [ { "allele": "A", "end": 4559, "referenceAllele": "T", "start": 4558 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.4449T>A" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Phe1483Leu", "hgvsWellDefined": "NP_001357333.1:p.Phe1483Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828420875", "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.4452T>A" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Phe1484Leu", "hgvsWellDefined": "NP_001357334.1:p.Phe1484Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825438765", "coordinates": [ { "allele": "A", "end": 4490, "referenceAllele": "T", "start": 4489 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.4380T>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Phe1460Leu", "hgvsWellDefined": "NP_001070651.1:p.Phe1460Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825576779", "coordinates": [ { "allele": "A", "end": 4622, "referenceAllele": "T", "start": 4621 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.4512T>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Phe1504Leu", "hgvsWellDefined": "NP_001107854.1:p.Phe1504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827004688", "coordinates": [ { "allele": "A", "end": 4382, "referenceAllele": "T", "start": 4381 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.4272T>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Phe1424Leu", "hgvsWellDefined": "NP_001305756.1:p.Phe1424Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827009763", "coordinates": [ { "allele": "A", "end": 4326, "referenceAllele": "T", "start": 4325 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.4236T>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Phe1412Leu", "hgvsWellDefined": "NP_001305758.1:p.Phe1412Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827015633", "coordinates": [ { "allele": "A", "end": 4185, "referenceAllele": "T", "start": 4184 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.3849T>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Phe1283Leu", "hgvsWellDefined": "NP_001305760.1:p.Phe1283Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA2827020144", "coordinates": [ { "allele": "A", "end": 4481, "referenceAllele": "T", "start": 4480 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.4413T>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Phe1471Leu", "hgvsWellDefined": "NP_001305761.1:p.Phe1471Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828094559", "coordinates": [ { "allele": "A", "end": 4493, "referenceAllele": "T", "start": 4492 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.4383T>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Phe1461Leu", "hgvsWellDefined": "NP_001350457.1:p.Phe1461Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829981647", "coordinates": [ { "allele": "A", "end": 4562, "referenceAllele": "T", "start": 4561 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.4452T>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Phe1484Leu", "hgvsWellDefined": "NP_066399.2:p.Phe1484Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }