{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA319570", "communityStandardTitle": [ "NM_000548.5(TSC2):c.782G>A (p.Arg261Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203100[alleleid]", "alleleId": 203100, "preferredName": "NM_000548.5(TSC2):c.782G>A (p.Arg261Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207771", "RCV": [ "RCV000190055", "RCV000572337", "RCV001084043", "RCV003996899" ], "variationId": 207771 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2107113G>A?assembly=hg19", "id": "chr16:g.2107113G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2057112G>A?assembly=hg38", "id": "chr16:g.2057112G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/45502703", "rs": 45502703 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2107113-G-A?dataset=gnomad_r2_1", "id": "16-2107113-G-A", "variant": "16:2107113 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2057112-G-A?dataset=gnomad_r3", "id": "16-2057112-G-A", "variant": "16:2057112 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2057112-G-A?dataset=gnomad_r4", "id": "16-2057112-G-A", "variant": "16:2057112 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2057112, "referenceAllele": "G", "start": 2057111 } ], "hgvs": [ "NC_000016.10:g.2057112G>A", "CM000678.2:g.2057112G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2107113, "referenceAllele": "G", "start": 2107112 } ], "hgvs": [ "NC_000016.9:g.2107113G>A", "CM000678.1:g.2107113G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2047114, "referenceAllele": "G", "start": 2047113 } ], "hgvs": [ "NC_000016.8:g.2047114G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 12807, "referenceAllele": "G", "start": 12806 } ], "hgvs": [ "NG_005895.1:g.12807G>A", "LRG_487:g.12807G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 893, "referenceAllele": "G", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:p.Arg261Gln", "hgvsWellDefined": "ENSP00000455997.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "A", "end": 943, "referenceAllele": "G", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.827G>A" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Arg276Gln", "hgvsWellDefined": "ENSP00000495146.2:p.Arg276Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "A", "end": 853, "referenceAllele": "G", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Arg261Gln", "hgvsWellDefined": "ENSP00000495459.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "A", "end": 874, "referenceAllele": "G", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*219G>A" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*219G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "A", "end": 725, "referenceAllele": "G", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*387G>A" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*387G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Arg261Gln", "hgvsWellDefined": "ENSP00000219476.3:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.782G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.782G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Arg261Gln" }, "RefSeq": { "hgvs": "NP_000539.2:p.Arg261Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 857, "referenceAllele": "G", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Arg261Gln", "hgvsWellDefined": "ENSP00000344383.4:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "G", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Arg261Gln", "hgvsWellDefined": "ENSP00000384468.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "G", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000467949.2:n.234G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756917" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.815G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Arg272Gln", "hgvsWellDefined": "ENSP00000454487.1:p.Arg272Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "A", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000495099.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "A", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000493846.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "A", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642812.1:n.827G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766936" }, { "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000494514.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "A", "end": 900, "referenceAllele": "G", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000494747.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "A", "end": 1735, "referenceAllele": "G", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643149.1:n.1735G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767117" }, { "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643298.1:c.*284G>A" ], "proteinEffect": { "hgvs": "ENSP00000494393.1:n.*284G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767200" }, { "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643745.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000495948.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000495948.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767447" }, { "coordinates": [ { "allele": "A", "end": 900, "referenceAllele": "G", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000495927.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "A", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000496262.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "A", "end": 894, "referenceAllele": "G", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644135.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000495644.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000495644.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767651" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644222.1:n.869G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767707" }, { "coordinates": [ { "allele": "A", "end": 844, "referenceAllele": "G", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000496611.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000496317.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "G", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.775G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "G", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644665.1:n.899G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767927" }, { "coordinates": [ { "allele": "A", "end": 1753, "referenceAllele": "G", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645591.1:n.1753G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768448" }, { "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Arg261Gln", "hgvsWellDefined": "ENSP00000495921.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "A", "end": 1196, "referenceAllele": "G", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646823.1:n.1196G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769082" }, { "coordinates": [ { "allele": "A", "end": 1483, "referenceAllele": "G", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647234.1:n.1483G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769302" }, { "coordinates": [ { "allele": "A", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647242.1:n.1450G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769308" }, { "coordinates": [ { "allele": "A", "end": 1412, "referenceAllele": "G", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Arg261Gln", "hgvsWellDefined": "ENSP00000219476.3:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "A", "end": 857, "referenceAllele": "G", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Arg261Gln", "hgvsWellDefined": "ENSP00000344383.4:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "G", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.635G>A" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Arg212Gln", "hgvsWellDefined": "ENSP00000371978.6:p.Arg212Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "G", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.782G>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Arg261Gln", "hgvsWellDefined": "ENSP00000384468.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*81G>A" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*81G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.671G>A" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Arg224Gln", "hgvsWellDefined": "ENSP00000399232.2:p.Arg224Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "A", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000467949.1:c.218G>A" ], "proteinEffect": { "hgvs": "ENSP00000454997.1:p.Arg73Gln", "hgvsWellDefined": "ENSP00000454997.1:p.Arg73Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247339" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.815G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Arg272Gln", "hgvsWellDefined": "ENSP00000454487.1:p.Arg272Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "@id": "http://reg.genome.network/allele/PA319572", "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "G", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.782G>A", "LRG_487t1:c.782G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Arg261Gln", "hgvsWellDefined": "NP_000539.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825434810", "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "G", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.782G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Arg261Gln", "hgvsWellDefined": "NP_001070651.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825572664", "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "G", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.782G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Arg261Gln", "hgvsWellDefined": "NP_001107854.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.782G>A" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Arg261Gln", "hgvsWellDefined": "XP_005255586.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.782G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Arg261Gln", "hgvsWellDefined": "XP_005255588.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.782G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Arg261Gln", "hgvsWellDefined": "XP_011520938.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.782G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Arg261Gln", "hgvsWellDefined": "XP_011520939.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "A", "end": 830, "referenceAllele": "G", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.671G>A" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Arg224Gln", "hgvsWellDefined": "XP_011520940.1:p.Arg224Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.782G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Arg261Gln", "hgvsWellDefined": "XP_011520941.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.782G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Arg261Gln", "hgvsWellDefined": "XP_011520942.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "A", "end": 830, "referenceAllele": "G", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.671G>A" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Arg224Gln", "hgvsWellDefined": "XP_011520943.1:p.Arg224Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA319572", "coordinates": [ { "allele": "A", "end": 982, "referenceAllele": "G", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.782G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Arg261Gln", "hgvsWellDefined": "NP_000539.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825434810", "coordinates": [ { "allele": "A", "end": 982, "referenceAllele": "G", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.782G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Arg261Gln", "hgvsWellDefined": "NP_001070651.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825572664", "coordinates": [ { "allele": "A", "end": 982, "referenceAllele": "G", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.782G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Arg261Gln", "hgvsWellDefined": "NP_001107854.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827000617", "coordinates": [ { "allele": "A", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.671G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Arg224Gln", "hgvsWellDefined": "NP_001305756.1:p.Arg224Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827006332", "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.635G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Arg212Gln", "hgvsWellDefined": "NP_001305758.1:p.Arg212Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA916022956", "coordinates": [ { "allele": "A", "end": 608, "referenceAllele": "G", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.182G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Arg61Gln", "hgvsWellDefined": "NP_001305760.1:p.Arg61Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA2827017282", "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.815G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Arg272Gln", "hgvsWellDefined": "NP_001305761.1:p.Arg272Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828090424", "coordinates": [ { "allele": "A", "end": 982, "referenceAllele": "G", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.782G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Arg261Gln", "hgvsWellDefined": "NP_001350457.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829971958", "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.782G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Arg261Gln", "hgvsWellDefined": "NP_066399.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.782G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Arg261Gln", "hgvsWellDefined": "XP_005255588.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.782G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Arg261Gln", "hgvsWellDefined": "XP_011520938.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.782G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Arg261Gln", "hgvsWellDefined": "XP_011520939.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "A", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.944G>A" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Arg315Gln", "hgvsWellDefined": "XP_011520940.2:p.Arg315Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.782G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Arg261Gln", "hgvsWellDefined": "XP_011520941.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.782G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Arg261Gln", "hgvsWellDefined": "XP_011520942.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.782G>A" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Arg261Gln", "hgvsWellDefined": "XP_016879104.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.782G>A" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Arg261Gln", "hgvsWellDefined": "XP_016879105.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "A", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.944G>A" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Arg315Gln", "hgvsWellDefined": "XP_016879106.1:p.Arg315Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.-650G>A" ], "proteinEffect": { "hgvs": "XP_016879107.1:n.-650G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.782G>A" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Arg261Gln", "hgvsWellDefined": "XP_024306181.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA319572", "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.782G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Arg261Gln", "hgvsWellDefined": "NP_000539.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.782G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.782G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Arg261Gln" }, "RefSeq": { "hgvs": "NP_000539.2:p.Arg261Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2828410534", "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.782G>A" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Arg261Gln", "hgvsWellDefined": "NP_001357333.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828416670", "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.782G>A" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Arg261Gln", "hgvsWellDefined": "NP_001357334.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825434810", "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.782G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Arg261Gln", "hgvsWellDefined": "NP_001070651.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825572664", "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.782G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Arg261Gln", "hgvsWellDefined": "NP_001107854.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827000617", "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.671G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Arg224Gln", "hgvsWellDefined": "NP_001305756.1:p.Arg224Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827006332", "coordinates": [ { "allele": "A", "end": 725, "referenceAllele": "G", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.635G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Arg212Gln", "hgvsWellDefined": "NP_001305758.1:p.Arg212Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA916022956", "coordinates": [ { "allele": "A", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.182G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Arg61Gln", "hgvsWellDefined": "NP_001305760.1:p.Arg61Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA2827017282", "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.815G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Arg272Gln", "hgvsWellDefined": "NP_001305761.1:p.Arg272Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828090424", "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.782G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Arg261Gln", "hgvsWellDefined": "NP_001350457.1:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829971958", "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.782G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Arg261Gln", "hgvsWellDefined": "NP_066399.2:p.Arg261Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }