{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA394299582", "communityStandardTitle": [ "NM_000548.5(TSC2):c.4128C>A (p.Phe1376Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2134351C>A?assembly=hg19", "id": "chr16:g.2134351C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2084350C>A?assembly=hg38", "id": "chr16:g.2084350C>A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2084350, "referenceAllele": "C", "start": 2084349 } ], "hgvs": [ "NC_000016.10:g.2084350C>A", "CM000678.2:g.2084350C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2134351, "referenceAllele": "C", "start": 2134350 } ], "hgvs": [ "NC_000016.9:g.2134351C>A", "CM000678.1:g.2134351C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2074352, "referenceAllele": "C", "start": 2074351 } ], "hgvs": [ "NC_000016.8:g.2074352C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 40045, "referenceAllele": "C", "start": 40044 } ], "hgvs": [ "NG_005895.1:g.40045C>A", "LRG_487:g.40045C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3959, "referenceAllele": "C", "start": 3958 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*2477C>A" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*2477C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "A", "end": 4091, "referenceAllele": "C", "start": 4090 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.3975C>A" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Phe1325Leu", "hgvsWellDefined": "ENSP00000495146.2:p.Phe1325Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "A", "end": 4196, "referenceAllele": "C", "start": 4195 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.4125C>A" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Phe1375Leu", "hgvsWellDefined": "ENSP00000495459.2:p.Phe1375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "A", "end": 5163, "referenceAllele": "C", "start": 5162 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*4508C>A" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*4508C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "A", "end": 7215, "referenceAllele": "C", "start": 7214 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*6877C>A" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*6877C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "A", "end": 4238, "referenceAllele": "C", "start": 4237 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.4128C>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Phe1376Leu", "hgvsWellDefined": "ENSP00000219476.3:p.Phe1376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4128C>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.4128C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Phe1376Leu" }, "RefSeq": { "hgvs": "NP_000539.2:p.Phe1376Leu" } } } }, { "coordinates": [ { "allele": "A", "end": 4134, "referenceAllele": "C", "start": 4133 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.4059C>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Phe1353Leu", "hgvsWellDefined": "ENSP00000344383.4:p.Phe1353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "A", "end": 4033, "referenceAllele": "C", "start": 4032 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.3927C>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Phe1309Leu", "hgvsWellDefined": "ENSP00000384468.2:p.Phe1309Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "A", "end": 4028, "referenceAllele": "C", "start": 4027 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.3960C>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Phe1320Leu", "hgvsWellDefined": "ENSP00000454487.1:p.Phe1320Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.2:c.364C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760583" }, { "coordinates": [ { "allele": "A", "end": 2010, "referenceAllele": "C", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.2:n.2010C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760618" }, { "coordinates": [ { "allele": "A", "end": 2782, "referenceAllele": "C", "start": 2781 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.2782C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "A", "end": 4051, "referenceAllele": "C", "start": 4050 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.3999C>A" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Phe1333Leu", "hgvsWellDefined": "ENSP00000495099.1:p.Phe1333Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642728.1:n.310C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766898" }, { "coordinates": [ { "allele": "A", "end": 3984, "referenceAllele": "C", "start": 3983 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.3930C>A" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Phe1310Leu", "hgvsWellDefined": "ENSP00000493846.1:p.Phe1310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "A", "end": 4105, "referenceAllele": "C", "start": 4104 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.3996C>A" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Phe1332Leu", "hgvsWellDefined": "ENSP00000494514.1:p.Phe1332Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "A", "end": 4045, "referenceAllele": "C", "start": 4044 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.3927C>A" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Phe1309Leu", "hgvsWellDefined": "ENSP00000494747.1:p.Phe1309Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "A", "end": 142, "referenceAllele": "C", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643177.1:n.142C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767136" }, { "coordinates": [ { "allele": "A", "end": 1776, "referenceAllele": "C", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643426.1:n.1776C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767277" }, { "coordinates": [ { "allele": "A", "end": 4177, "referenceAllele": "C", "start": 4176 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.4059C>A" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Phe1353Leu", "hgvsWellDefined": "ENSP00000495927.1:p.Phe1353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "A", "end": 4053, "referenceAllele": "C", "start": 4052 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.3999C>A" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Phe1333Leu", "hgvsWellDefined": "ENSP00000496262.1:p.Phe1333Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "A", "end": 3989, "referenceAllele": "C", "start": 3988 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.3927C>A" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Phe1309Leu", "hgvsWellDefined": "ENSP00000496611.1:p.Phe1309Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "A", "end": 4030, "referenceAllele": "C", "start": 4029 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.3930C>A" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Phe1310Leu", "hgvsWellDefined": "ENSP00000496317.1:p.Phe1310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "A", "end": 4049, "referenceAllele": "C", "start": 4048 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.4049C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "A", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.2212C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "A", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645186.1:c.371C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768213" }, { "coordinates": [ { "allele": "A", "end": 4214, "referenceAllele": "C", "start": 4213 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.4128C>A" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Phe1376Leu", "hgvsWellDefined": "ENSP00000495921.1:p.Phe1376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "A", "end": 2943, "referenceAllele": "C", "start": 2942 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.2943C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "A", "end": 1380, "referenceAllele": "C", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646674.1:n.1380C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769003" }, { "coordinates": [ { "allele": "A", "end": 1351, "referenceAllele": "C", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647042.1:n.1351C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769203" }, { "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "C", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647180.1:n.1241C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769277" }, { "coordinates": [ { "allele": "A", "end": 4758, "referenceAllele": "C", "start": 4757 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.4128C>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Phe1376Leu", "hgvsWellDefined": "ENSP00000219476.3:p.Phe1376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "A", "end": 4134, "referenceAllele": "C", "start": 4133 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.4059C>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Phe1353Leu", "hgvsWellDefined": "ENSP00000344383.4:p.Phe1353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "A", "end": 3878, "referenceAllele": "C", "start": 3877 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.3783C>A" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Phe1261Leu", "hgvsWellDefined": "ENSP00000371978.6:p.Phe1261Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "A", "end": 4033, "referenceAllele": "C", "start": 4032 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.3927C>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Phe1309Leu", "hgvsWellDefined": "ENSP00000384468.2:p.Phe1309Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "A", "end": 3684, "referenceAllele": "C", "start": 3683 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*3295C>A" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*3295C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "A", "end": 3900, "referenceAllele": "C", "start": 3899 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.3819C>A" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Phe1273Leu", "hgvsWellDefined": "ENSP00000399232.2:p.Phe1273Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "A", "end": 1886, "referenceAllele": "C", "start": 1885 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000497886.5:n.1886C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334013" }, { "coordinates": [ { "allele": "A", "end": 4028, "referenceAllele": "C", "start": 4027 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.3960C>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Phe1320Leu", "hgvsWellDefined": "ENSP00000454487.1:p.Phe1320Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.1:c.310C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS246736" }, { "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.1:n.1243C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381794" }, { "@id": "http://reg.genome.network/allele/PA2825186595", "coordinates": [ { "allele": "A", "end": 4234, "referenceAllele": "C", "start": 4233 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.4128C>A", "LRG_487t1:c.4128C>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Phe1376Leu", "hgvsWellDefined": "NP_000539.2:p.Phe1376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825438226", "coordinates": [ { "allele": "A", "end": 4033, "referenceAllele": "C", "start": 4032 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.3927C>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Phe1309Leu", "hgvsWellDefined": "NP_001070651.1:p.Phe1309Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825576242", "coordinates": [ { "allele": "A", "end": 4165, "referenceAllele": "C", "start": 4164 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.4059C>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Phe1353Leu", "hgvsWellDefined": "NP_001107854.1:p.Phe1353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "A", "end": 4086, "referenceAllele": "C", "start": 4085 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.3999C>A" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Phe1333Leu", "hgvsWellDefined": "XP_005255586.2:p.Phe1333Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "A", "end": 4017, "referenceAllele": "C", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.3930C>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Phe1310Leu", "hgvsWellDefined": "XP_005255588.2:p.Phe1310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "A", "end": 4269, "referenceAllele": "C", "start": 4268 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.4182C>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Phe1394Leu", "hgvsWellDefined": "XP_011520938.1:p.Phe1394Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "A", "end": 4266, "referenceAllele": "C", "start": 4265 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.4179C>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Phe1393Leu", "hgvsWellDefined": "XP_011520939.1:p.Phe1393Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "A", "end": 4230, "referenceAllele": "C", "start": 4229 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.4071C>A" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Phe1357Leu", "hgvsWellDefined": "XP_011520940.1:p.Phe1357Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "A", "end": 4140, "referenceAllele": "C", "start": 4139 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.4053C>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Phe1351Leu", "hgvsWellDefined": "XP_011520941.1:p.Phe1351Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "A", "end": 4137, "referenceAllele": "C", "start": 4136 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.4050C>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Phe1350Leu", "hgvsWellDefined": "XP_011520942.1:p.Phe1350Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "A", "end": 3978, "referenceAllele": "C", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.3819C>A" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Phe1273Leu", "hgvsWellDefined": "XP_011520943.1:p.Phe1273Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA2825186595", "coordinates": [ { "allele": "A", "end": 4328, "referenceAllele": "C", "start": 4327 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.4128C>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Phe1376Leu", "hgvsWellDefined": "NP_000539.2:p.Phe1376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825438226", "coordinates": [ { "allele": "A", "end": 4127, "referenceAllele": "C", "start": 4126 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.3927C>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Phe1309Leu", "hgvsWellDefined": "NP_001070651.1:p.Phe1309Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825576242", "coordinates": [ { "allele": "A", "end": 4259, "referenceAllele": "C", "start": 4258 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.4059C>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Phe1353Leu", "hgvsWellDefined": "NP_001107854.1:p.Phe1353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827004150", "coordinates": [ { "allele": "A", "end": 4019, "referenceAllele": "C", "start": 4018 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.3819C>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Phe1273Leu", "hgvsWellDefined": "NP_001305756.1:p.Phe1273Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827009261", "coordinates": [ { "allele": "A", "end": 3963, "referenceAllele": "C", "start": 3962 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.3783C>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Phe1261Leu", "hgvsWellDefined": "NP_001305758.1:p.Phe1261Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827015095", "coordinates": [ { "allele": "A", "end": 3822, "referenceAllele": "C", "start": 3821 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.3396C>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Phe1132Leu", "hgvsWellDefined": "NP_001305760.1:p.Phe1132Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA2827019607", "coordinates": [ { "allele": "A", "end": 4028, "referenceAllele": "C", "start": 4027 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.3960C>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Phe1320Leu", "hgvsWellDefined": "NP_001305761.1:p.Phe1320Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828094020", "coordinates": [ { "allele": "A", "end": 4130, "referenceAllele": "C", "start": 4129 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.3930C>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Phe1310Leu", "hgvsWellDefined": "NP_001350457.1:p.Phe1310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829980461", "coordinates": [ { "allele": "A", "end": 4109, "referenceAllele": "C", "start": 4108 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.3999C>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Phe1333Leu", "hgvsWellDefined": "NP_066399.2:p.Phe1333Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "A", "end": 4017, "referenceAllele": "C", "start": 4016 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.3930C>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Phe1310Leu", "hgvsWellDefined": "XP_005255588.2:p.Phe1310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "A", "end": 4269, "referenceAllele": "C", "start": 4268 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.4182C>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Phe1394Leu", "hgvsWellDefined": "XP_011520938.1:p.Phe1394Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "A", "end": 4266, "referenceAllele": "C", "start": 4265 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.4179C>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Phe1393Leu", "hgvsWellDefined": "XP_011520939.1:p.Phe1393Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "A", "end": 4362, "referenceAllele": "C", "start": 4361 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.4344C>A" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Phe1448Leu", "hgvsWellDefined": "XP_011520940.2:p.Phe1448Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "A", "end": 4140, "referenceAllele": "C", "start": 4139 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.4053C>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Phe1351Leu", "hgvsWellDefined": "XP_011520941.1:p.Phe1351Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "A", "end": 4137, "referenceAllele": "C", "start": 4136 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.4050C>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Phe1350Leu", "hgvsWellDefined": "XP_011520942.1:p.Phe1350Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "A", "end": 4212, "referenceAllele": "C", "start": 4211 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.4125C>A" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Phe1375Leu", "hgvsWellDefined": "XP_016879104.1:p.Phe1375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "A", "end": 4083, "referenceAllele": "C", "start": 4082 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.3996C>A" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Phe1332Leu", "hgvsWellDefined": "XP_016879105.1:p.Phe1332Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "A", "end": 4110, "referenceAllele": "C", "start": 4109 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.4092C>A" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Phe1364Leu", "hgvsWellDefined": "XP_016879106.1:p.Phe1364Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "A", "end": 4356, "referenceAllele": "C", "start": 4355 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.2838C>A" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Phe946Leu", "hgvsWellDefined": "XP_016879107.1:p.Phe946Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "A", "end": 4014, "referenceAllele": "C", "start": 4013 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.3927C>A" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Phe1309Leu", "hgvsWellDefined": "XP_024306181.1:p.Phe1309Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA2825186595", "coordinates": [ { "allele": "A", "end": 4238, "referenceAllele": "C", "start": 4237 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.4128C>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Phe1376Leu", "hgvsWellDefined": "NP_000539.2:p.Phe1376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4128C>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.4128C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Phe1376Leu" }, "RefSeq": { "hgvs": "NP_000539.2:p.Phe1376Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2828414198", "coordinates": [ { "allele": "A", "end": 4106, "referenceAllele": "C", "start": 4105 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.3996C>A" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Phe1332Leu", "hgvsWellDefined": "NP_001357333.1:p.Phe1332Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828420337", "coordinates": [ { "allele": "A", "end": 4109, "referenceAllele": "C", "start": 4108 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.3999C>A" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Phe1333Leu", "hgvsWellDefined": "NP_001357334.1:p.Phe1333Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825438226", "coordinates": [ { "allele": "A", "end": 4037, "referenceAllele": "C", "start": 4036 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.3927C>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Phe1309Leu", "hgvsWellDefined": "NP_001070651.1:p.Phe1309Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825576242", "coordinates": [ { "allele": "A", "end": 4169, "referenceAllele": "C", "start": 4168 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.4059C>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Phe1353Leu", "hgvsWellDefined": "NP_001107854.1:p.Phe1353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827004150", "coordinates": [ { "allele": "A", "end": 3929, "referenceAllele": "C", "start": 3928 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.3819C>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Phe1273Leu", "hgvsWellDefined": "NP_001305756.1:p.Phe1273Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827009261", "coordinates": [ { "allele": "A", "end": 3873, "referenceAllele": "C", "start": 3872 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.3783C>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Phe1261Leu", "hgvsWellDefined": "NP_001305758.1:p.Phe1261Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827015095", "coordinates": [ { "allele": "A", "end": 3732, "referenceAllele": "C", "start": 3731 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.3396C>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Phe1132Leu", "hgvsWellDefined": "NP_001305760.1:p.Phe1132Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA2827019607", "coordinates": [ { "allele": "A", "end": 4028, "referenceAllele": "C", "start": 4027 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.3960C>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Phe1320Leu", "hgvsWellDefined": "NP_001305761.1:p.Phe1320Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828094020", "coordinates": [ { "allele": "A", "end": 4040, "referenceAllele": "C", "start": 4039 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.3930C>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Phe1310Leu", "hgvsWellDefined": "NP_001350457.1:p.Phe1310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829980461", "coordinates": [ { "allele": "A", "end": 4109, "referenceAllele": "C", "start": 4108 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.3999C>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Phe1333Leu", "hgvsWellDefined": "NP_066399.2:p.Phe1333Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }