{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA013704", "communityStandardTitle": [ "NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58302[alleleid]", "alleleId": 58302, "preferredName": "NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49140", "RCV": [ "RCV000042395", "RCV000413741", "RCV001065226" ], "variationId": 49140 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2110780T>C?assembly=hg19", "id": "chr16:g.2110780T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2060779T>C?assembly=hg38", "id": "chr16:g.2060779T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137854345", "rs": 137854345 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 2060779, "referenceAllele": "T", "start": 2060778 } ], "hgvs": [ "NC_000016.10:g.2060779T>C", "CM000678.2:g.2060779T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 2110780, "referenceAllele": "T", "start": 2110779 } ], "hgvs": [ "NC_000016.9:g.2110780T>C", "CM000678.1:g.2110780T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 2050781, "referenceAllele": "T", "start": 2050780 } ], "hgvs": [ "NC_000016.8:g.2050781T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "C", "end": 16474, "referenceAllele": "T", "start": 16473 } ], "hgvs": [ "NG_005895.1:g.16474T>C", "LRG_487:g.16474T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1196, "referenceAllele": "T", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:p.Leu362Pro", "hgvsWellDefined": "ENSP00000455997.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "T", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.1130T>C" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Leu377Pro", "hgvsWellDefined": "ENSP00000495146.2:p.Leu377Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "C", "end": 1156, "referenceAllele": "T", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Leu362Pro", "hgvsWellDefined": "ENSP00000495459.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "C", "end": 1177, "referenceAllele": "T", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*522T>C" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*522T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "C", "end": 1028, "referenceAllele": "T", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*690T>C" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*690T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "C", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Leu362Pro", "hgvsWellDefined": "ENSP00000219476.3:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.1085T>C" }, "RefSeq": { "hgvs": "NM_000548.5:c.1085T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Leu362Pro" }, "RefSeq": { "hgvs": "NP_000539.2:p.Leu362Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 1160, "referenceAllele": "T", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Leu362Pro", "hgvsWellDefined": "ENSP00000344383.4:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "C", "end": 1191, "referenceAllele": "T", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Leu362Pro", "hgvsWellDefined": "ENSP00000384468.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "C", "end": 427, "endIntronDirection": "-", "endIntronOffset": 1717, "referenceAllele": "T", "start": 427, "startIntronDirection": "-", "startIntronOffset": 1718 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000467949.2:n.428-1718T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS756917" }, { "coordinates": [ { "allele": "C", "end": 1186, "referenceAllele": "T", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.1118T>C" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Leu373Pro", "hgvsWellDefined": "ENSP00000454487.1:p.Leu373Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "C", "end": 1137, "referenceAllele": "T", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000495099.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "C", "end": 1139, "referenceAllele": "T", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000493846.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "C", "end": 1130, "referenceAllele": "T", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642812.1:n.1130T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS766936" }, { "coordinates": [ { "allele": "C", "end": 1194, "referenceAllele": "T", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000494514.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "C", "end": 1203, "referenceAllele": "T", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000494747.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "C", "end": 2038, "referenceAllele": "T", "start": 2037 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643149.1:n.2038T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767117" }, { "coordinates": [ { "allele": "C", "end": 1384, "referenceAllele": "T", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643298.1:c.*587T>C" ], "proteinEffect": { "hgvs": "ENSP00000494393.1:n.*587T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS767200" }, { "coordinates": [ { "allele": "C", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643745.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000495948.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000495948.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS767447" }, { "coordinates": [ { "allele": "C", "end": 1203, "referenceAllele": "T", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000495927.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "C", "end": 1139, "referenceAllele": "T", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000496262.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "C", "end": 1197, "referenceAllele": "T", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644135.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000495644.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000495644.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS767651" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644222.1:n.1172T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767707" }, { "coordinates": [ { "allele": "C", "end": 1147, "referenceAllele": "T", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000496611.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "C", "end": 1185, "referenceAllele": "T", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000496317.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "C", "end": 1078, "referenceAllele": "T", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.1078T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "C", "end": 1202, "referenceAllele": "T", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644665.1:n.1202T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS767927" }, { "coordinates": [ { "allele": "C", "end": 2056, "referenceAllele": "T", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645591.1:n.2056T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768448" }, { "coordinates": [ { "allele": "C", "end": 1171, "referenceAllele": "T", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Leu362Pro", "hgvsWellDefined": "ENSP00000495921.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "C", "end": 1499, "referenceAllele": "T", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646823.1:n.1499T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769082" }, { "coordinates": [ { "allele": "C", "end": 1786, "referenceAllele": "T", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647234.1:n.1786T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769302" }, { "coordinates": [ { "allele": "C", "end": 1753, "referenceAllele": "T", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647242.1:n.1753T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS769308" }, { "coordinates": [ { "allele": "C", "end": 1715, "referenceAllele": "T", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Leu362Pro", "hgvsWellDefined": "ENSP00000219476.3:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "C", "end": 1160, "referenceAllele": "T", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Leu362Pro", "hgvsWellDefined": "ENSP00000344383.4:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "C", "end": 1033, "referenceAllele": "T", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.938T>C" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Leu313Pro", "hgvsWellDefined": "ENSP00000371978.6:p.Leu313Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "C", "end": 1191, "referenceAllele": "T", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.1085T>C" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Leu362Pro", "hgvsWellDefined": "ENSP00000384468.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "C", "end": 773, "referenceAllele": "T", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*384T>C" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*384T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "C", "end": 1055, "referenceAllele": "T", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.974T>C" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Leu325Pro", "hgvsWellDefined": "ENSP00000399232.2:p.Leu325Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "C", "end": 411, "endIntronDirection": "-", "endIntronOffset": 1717, "referenceAllele": "T", "start": 411, "startIntronDirection": "-", "startIntronOffset": 1718 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000467949.1:c.412-1718T>C" ], "proteinEffect": { "hgvs": "ENSP00000454997.1:n.412-1718T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS247339" }, { "coordinates": [ { "allele": "C", "end": 1186, "referenceAllele": "T", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.1118T>C" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Leu373Pro", "hgvsWellDefined": "ENSP00000454487.1:p.Leu373Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "@id": "http://reg.genome.network/allele/PA262445", "coordinates": [ { "allele": "C", "end": 1191, "referenceAllele": "T", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.1085T>C", "LRG_487t1:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Leu362Pro", "hgvsWellDefined": "NP_000539.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825435116", "coordinates": [ { "allele": "C", "end": 1191, "referenceAllele": "T", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Leu362Pro", "hgvsWellDefined": "NP_001070651.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825572996", "coordinates": [ { "allele": "C", "end": 1191, "referenceAllele": "T", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Leu362Pro", "hgvsWellDefined": "NP_001107854.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Leu362Pro", "hgvsWellDefined": "XP_005255586.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Leu362Pro", "hgvsWellDefined": "XP_005255588.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Leu362Pro", "hgvsWellDefined": "XP_011520938.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Leu362Pro", "hgvsWellDefined": "XP_011520939.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "C", "end": 1133, "referenceAllele": "T", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.974T>C" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Leu325Pro", "hgvsWellDefined": "XP_011520940.1:p.Leu325Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Leu362Pro", "hgvsWellDefined": "XP_011520941.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Leu362Pro", "hgvsWellDefined": "XP_011520942.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "C", "end": 1133, "referenceAllele": "T", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.974T>C" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Leu325Pro", "hgvsWellDefined": "XP_011520943.1:p.Leu325Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA262445", "coordinates": [ { "allele": "C", "end": 1285, "referenceAllele": "T", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Leu362Pro", "hgvsWellDefined": "NP_000539.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825435116", "coordinates": [ { "allele": "C", "end": 1285, "referenceAllele": "T", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Leu362Pro", "hgvsWellDefined": "NP_001070651.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825572996", "coordinates": [ { "allele": "C", "end": 1285, "referenceAllele": "T", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Leu362Pro", "hgvsWellDefined": "NP_001107854.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827000947", "coordinates": [ { "allele": "C", "end": 1174, "referenceAllele": "T", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.974T>C" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Leu325Pro", "hgvsWellDefined": "NP_001305756.1:p.Leu325Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827006598", "coordinates": [ { "allele": "C", "end": 1118, "referenceAllele": "T", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.938T>C" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Leu313Pro", "hgvsWellDefined": "NP_001305758.1:p.Leu313Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827011925", "coordinates": [ { "allele": "C", "end": 911, "referenceAllele": "T", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.485T>C" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Leu162Pro", "hgvsWellDefined": "NP_001305760.1:p.Leu162Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA916023376", "coordinates": [ { "allele": "C", "end": 1186, "referenceAllele": "T", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.1118T>C" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Leu373Pro", "hgvsWellDefined": "NP_001305761.1:p.Leu373Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828090753", "coordinates": [ { "allele": "C", "end": 1285, "referenceAllele": "T", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Leu362Pro", "hgvsWellDefined": "NP_001350457.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829972558", "coordinates": [ { "allele": "C", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Leu362Pro", "hgvsWellDefined": "NP_066399.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Leu362Pro", "hgvsWellDefined": "XP_005255588.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Leu362Pro", "hgvsWellDefined": "XP_011520938.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Leu362Pro", "hgvsWellDefined": "XP_011520939.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "C", "end": 1265, "referenceAllele": "T", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.1247T>C" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Leu416Pro", "hgvsWellDefined": "XP_011520940.2:p.Leu416Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Leu362Pro", "hgvsWellDefined": "XP_011520941.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Leu362Pro", "hgvsWellDefined": "XP_011520942.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Leu362Pro", "hgvsWellDefined": "XP_016879104.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Leu362Pro", "hgvsWellDefined": "XP_016879105.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "C", "end": 1265, "referenceAllele": "T", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.1247T>C" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Leu416Pro", "hgvsWellDefined": "XP_016879106.1:p.Leu416Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.-347T>C" ], "proteinEffect": { "hgvs": "XP_016879107.1:n.-347T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "C", "end": 1172, "referenceAllele": "T", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.1085T>C" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Leu362Pro", "hgvsWellDefined": "XP_024306181.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA262445", "coordinates": [ { "allele": "C", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Leu362Pro", "hgvsWellDefined": "NP_000539.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.1085T>C" }, "RefSeq": { "hgvs": "NM_000548.5:c.1085T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Leu362Pro" }, "RefSeq": { "hgvs": "NP_000539.2:p.Leu362Pro" } } } }, { "@id": "http://reg.genome.network/allele/PA2828410868", "coordinates": [ { "allele": "C", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Leu362Pro", "hgvsWellDefined": "NP_001357333.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828417004", "coordinates": [ { "allele": "C", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Leu362Pro", "hgvsWellDefined": "NP_001357334.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825435116", "coordinates": [ { "allele": "C", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Leu362Pro", "hgvsWellDefined": "NP_001070651.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825572996", "coordinates": [ { "allele": "C", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Leu362Pro", "hgvsWellDefined": "NP_001107854.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827000947", "coordinates": [ { "allele": "C", "end": 1084, "referenceAllele": "T", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.974T>C" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Leu325Pro", "hgvsWellDefined": "NP_001305756.1:p.Leu325Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827006598", "coordinates": [ { "allele": "C", "end": 1028, "referenceAllele": "T", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.938T>C" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Leu313Pro", "hgvsWellDefined": "NP_001305758.1:p.Leu313Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827011925", "coordinates": [ { "allele": "C", "end": 821, "referenceAllele": "T", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.485T>C" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Leu162Pro", "hgvsWellDefined": "NP_001305760.1:p.Leu162Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA916023376", "coordinates": [ { "allele": "C", "end": 1186, "referenceAllele": "T", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.1118T>C" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Leu373Pro", "hgvsWellDefined": "NP_001305761.1:p.Leu373Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828090753", "coordinates": [ { "allele": "C", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Leu362Pro", "hgvsWellDefined": "NP_001350457.1:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829972558", "coordinates": [ { "allele": "C", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.1085T>C" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Leu362Pro", "hgvsWellDefined": "NP_066399.2:p.Leu362Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }