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}, "referenceSequence": "http://reg.genome.network/refseq/RS741237", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245157.11:c.1066G>T" }, "RefSeq": { "hgvs": "NM_031885.5:c.1066G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245157.5:p.Glu356Ter" }, "RefSeq": { "hgvs": "NP_114091.4:p.Glu356Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1487, "referenceAllele": "G", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "ENST00000245157.9:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000245157.5:p.Glu356Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS376498" }, { "coordinates": [ { "allele": "T", "end": 1296, "referenceAllele": "G", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "ENST00000565781.5:n.1296G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS378968" }, { "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "G", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "ENST00000568104.5:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000456289.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000456289.1:p.Glu357_Ser675delinsAsnAlaLysAlaGluLeuAlaSerProLeuAsnGluAlaAspGlyHisArgGlyIleIleProAlaAsnThrArgLeuHisThrThrLeuSerValSerLeuGlyAsnGluThrGlnThrAlaHisThrGluLeuArgIleSerThrSerAsnAspThrIleIleArgAlaValLeuIlePheAlaGluGlyIlePheThrGlyGluSerHisValValHisProSerIleHisAsnLeuSerSerSerIleCysIleProIleValProProLysAspValProValAspLeuHisLeuLysAlaPheValGlyTyrArgSerSerThrGlnPheHisValPheGluSerThrArgGlnLeuProArgPheSerMetTyrAlaLeuThrSerLeuAspProAlaSerGluProIleSerTyrValAsnPheThrIleAlaGluArgAlaGlnArgValValValTrpLeuGlyGlnAsnPheLeuLeuProGluAspThrHisIleGlnAsnAlaProPheGlnValCysPheThrSerLeuArgAsnGlyGlyHisLeuHisIleLysIleLysLeuSerGlyGluValAspGluTyrHisSerValHisGlnLysLeuSerAlaAspMetAlaAspHisSerAsnLeuIleArgSerLeuLeuValGlyAlaGluAspAlaArgLeuMetArgAspMetLysThrMetLysSerArgTyrMetGluLeuTyrAspLeuAsnArgAspLeuLeuAsnGlyTyrLysIleArgCysAsnAsnHisThrGluLeuLeuGlyAsnLeuLysAlaValAsnGlnAlaIleGlnArgAlaGlyArgLeuArgValGlyLysProLysAsnGlnValIleThrAlaCysArgAspAlaIleArgSerAsnAsnIleAsnThrLeuPheLysIleMetArgValGlyThrAlaSerSerTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS038708" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "G", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "XM_005256080.1:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_005256137.1:p.Glu356Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS061154" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "G", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "XM_005256081.1:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_005256138.1:p.Glu356Ter", "hgvsWellDefined": "XP_005256138.1:p.Glu357_Gln510delinsAsnAlaLysAlaGluLeuAlaSerProLeuAsnGluAlaAspGlyHisArgGlyIleIleProAlaAsnThrArgLeuHisThrThrLeuSerValSerLeuGlyAsnGluThrGlnThrAlaHisThrGluLeuArgIleSerThrSerAsnAspThrIleIleArgAlaValLeuIlePheAlaGluGlyIlePheThrGlyGluSerHisValValHisProSerIleHisAsnLeuSerSerSerIleCysIleProIleValProProLysAspValProValAspLeuHisLeuLysAlaPheValGlyTyrArgSerSerThrGlnPheHisValPheGluSerThrArgGlnLeuProArgPheSerMetTyrAlaLeuThrSerLeuAspProAlaSerGluProIleSerTyrValAsnPheThrIleAlaGluArgAlaGlnArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061155" }, { "coordinates": [ { "allele": "T", "end": 1299, 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"NP_114091.3:p.Glu357_Ser721delinsAsnAlaLysAlaGluLeuAlaSerProLeuAsnGluAlaAspGlyHisArgGlyIleIleProAlaAsnThrArgLeuHisThrThrLeuSerValSerLeuGlyAsnGluThrGlnThrAlaHisThrGluLeuArgIleSerThrSerAsnAspThrIleIleArgAlaValLeuIlePheAlaGluGlyIlePheThrGlyGluSerHisValValHisProSerIleHisAsnLeuSerSerSerIleCysIleProIleValProProLysAspValProValAspLeuHisLeuLysAlaPheValGlyTyrArgSerSerThrGlnPheHisValPheGluSerThrArgGlnLeuProArgPheSerMetTyrAlaLeuThrSerLeuAspProAlaSerGluProIleSerTyrValAsnPheThrIleAlaGluArgAlaGlnArgValValValTrpLeuGlyGlnAsnPheLeuLeuProGluAspThrHisIleGlnAsnAlaProPheGlnValCysPheThrSerLeuArgAsnGlyGlyHisLeuHisIleLysIleLysLeuSerGlyGluIleThrIleAsnThrAspAspIleAspLeuAlaGlyAspIleIleGlnSerMetAlaSerPhePheAlaIleGluAspLeuGlnValGluAlaAspPheProValTyrPheGluGluLeuArgLysValLeuValLysValAspGluTyrHisSerValHisGlnLysLeuSerAlaAspMetAlaAspHisSerAsnLeuIleArgSerLeuLeuValGlyAlaGluAspAlaArgLeuMetArgAspMetLysThrMetLysSerArgTyrMetGluLeuTyrAspLeuAsnArgAspLeuLeuAsnGlyTyrLysIleArgCysAsnAsnHisThrGluLeuLeuGlyAsnLeuLysAlaValAsnGlnAlaIleGlnArgAlaGlyArgLeuArgValGlyLysProLysAsnGlnValIleThrAlaCysArgAspAlaIleArgSerAsnAsnIleAsnThrLeuPheLysIleMetArgValGlyThrAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671142" }, { "@id": "http://reg.genome.network/allele/PA2828716268", "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "G", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "NM_001377456.1:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_001364385.1:p.Glu356Ter", "hgvsWellDefined": "NP_001364385.1:p.Glu357_Ser721delinsAsnAlaLysAlaGluLeuAlaSerProLeuAsnGluAlaAspGlyHisArgGlyIleIleProAlaAsnThrArgLeuHisThrThrLeuSerValSerLeuGlyAsnGluThrGlnThrAlaHisThrGluLeuArgIleSerThrSerAsnAspThrIleIleArgAlaValLeuIlePheAlaGluGlyIlePheThrGlyGluSerHisValValHisProSerIleHisAsnLeuSerSerSerIleCysIleProIleValProProLysAspValProValAspLeuHisLeuLysAlaPheValGlyTyrArgSerSerThrGlnPheHisValPheGluSerThrArgGlnLeuProArgPheSerMetTyrAlaLeuThrSerLeuAspProAlaSerGluProIleSerTyrValAsnPheThrIleAlaGluArgAlaGlnArgValValValTrpLeuGlyGlnAsnPheLeuLeuProGluAspThrHisIleGlnAsnAlaProPheGlnValCysPheThrSerLeuArgAsnGlyGlyHisLeuHisIleLysIleLysLeuSerGlyGluIleThrIleAsnThrAspAspIleAspLeuAlaGlyAspIleIleGlnSerMetAlaSerPhePheAlaIleGluAspLeuGlnValGluAlaAspPheProValTyrPheGluGluLeuArgLysValLeuValLysValAspGluTyrHisSerValHisGlnLysLeuSerAlaAspMetAlaAspHisSerAsnLeuIleArgSerLeuLeuValGlyAlaGluAspAlaArgLeuMetArgAspMetLysThrMetLysSerArgTyrMetGluLeuTyrAspLeuAsnArgAspLeuLeuAsnGlyTyrLysIleArgCysAsnAsnHisThrGluLeuLeuGlyAsnLeuLysAlaValAsnGlnAlaIleGlnArgAlaGlyArgLeuArgValGlyLysProLysAsnGlnValIleThrAlaCysArgAspAlaIleArgSerAsnAsnIleAsnThrLeuPheLysIleMetArgValGlyThrAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695223" }, { "@id": "http://reg.genome.network/allele/PA1139752674", "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "G", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "NM_031885.5:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_114091.4:p.Glu356Ter", "hgvsWellDefined": "NP_114091.4:p.Glu357_Ser721delinsAsnAlaLysAlaGluLeuAlaSerProLeuAsnGluAlaAspGlyHisArgGlyIleIleProAlaAsnThrArgLeuHisThrThrLeuSerValSerLeuGlyAsnGluThrGlnThrAlaHisThrGluLeuArgIleSerThrSerAsnAspThrIleIleArgAlaValLeuIlePheAlaGluGlyIlePheThrGlyGluSerHisValValHisProSerIleHisAsnLeuSerSerSerIleCysIleProIleValProProLysAspValProValAspLeuHisLeuLysAlaPheValGlyTyrArgSerSerThrGlnPheHisValPheGluSerThrArgGlnLeuProArgPheSerMetTyrAlaLeuThrSerLeuAspProAlaSerGluProIleSerTyrValAsnPheThrIleAlaGluArgAlaGlnArgValValValTrpLeuGlyGlnAsnPheLeuLeuProGluAspThrHisIleGlnAsnAlaProPheGlnValCysPheThrSerLeuArgAsnGlyGlyHisLeuHisIleLysIleLysLeuSerGlyGluIleThrIleAsnThrAspAspIleAspLeuAlaGlyAspIleIleGlnSerMetAlaSerPhePheAlaIleGluAspLeuGlnValGluAlaAspPheProValTyrPheGluGluLeuArgLysValLeuValLysValAspGluTyrHisSerValHisGlnLysLeuSerAlaAspMetAlaAspHisSerAsnLeuIleArgSerLeuLeuValGlyAlaGluAspAlaArgLeuMetArgAspMetLysThrMetLysSerArgTyrMetGluLeuTyrAspLeuAsnArgAspLeuLeuAsnGlyTyrLysIleArgCysAsnAsnHisThrGluLeuLeuGlyAsnLeuLysAlaValAsnGlnAlaIleGlnArgAlaGlyArgLeuArgValGlyLysProLysAsnGlnValIleThrAlaCysArgAspAlaIleArgSerAsnAsnIleAsnThrLeuPheLysIleMetArgValGlyThrAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698976", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000245157.11:c.1066G>T" }, "RefSeq": { "hgvs": "NM_031885.5:c.1066G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000245157.5:p.Glu356Ter" }, "RefSeq": { "hgvs": "NP_114091.4:p.Glu356Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "G", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "NR_165293.1:n.1228G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706058" }, { "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "G", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "NR_165294.1:n.1228G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706059" }, { "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "G", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "NR_165295.1:n.1228G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706060" }, { "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "G", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "NR_165296.1:n.1228G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706061" }, { "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "G", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN000967", "geneNCBI_id": 583, "geneSymbol": "BBS2", "hgvs": [ "NR_165297.1:n.1228G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706062" } ], "type": "nucleotide" }