{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA363960500", "communityStandardTitle": [ "NM_001024630.4(RUNX2):c.577C>T (p.Arg193Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=818248[alleleid]", "alleleId": 818248, "preferredName": "NM_001024630.4(RUNX2):c.577C>T (p.Arg193Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/829868", "RCV": [ "RCV001029809", "RCV001384066" ], "variationId": 829868 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.45399753C>T?assembly=hg19", "id": "chr6:g.45399753C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.45432016C>T?assembly=hg38", "id": "chr6:g.45432016C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1582105417", "rs": 1582105417 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 45432016, "referenceAllele": "C", "start": 45432015 } ], "hgvs": [ "NC_000006.12:g.45432016C>T", "CM000668.2:g.45432016C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 45399753, "referenceAllele": "C", "start": 45399752 } ], "hgvs": [ "NC_000006.11:g.45399753C>T", "CM000668.1:g.45399753C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 45507731, "referenceAllele": "C", "start": 45507730 } ], "hgvs": [ "NC_000006.10:g.45507731C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 108700, "referenceAllele": "C", "start": 108699 } ], "hgvs": [ "NG_008020.1:g.108700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000780" }, { "coordinates": [ { "allele": "T", "end": 108700, "referenceAllele": "C", "start": 108699 } ], "hgvs": [ "NG_008020.2:g.108700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673483" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000646519.1:c.535C>T" ], "proteinEffect": { "hgvs": "ENSP00000496517.1:p.Arg179Ter", "hgvsWellDefined": "ENSP00000496517.1:p.Arg179_Arg334delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAlaArgSerArgTyrSerLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768920" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000647337.2:c.577C>T" ], "proteinEffect": { "hgvs": "ENSP00000495497.1:p.Arg193Ter", "hgvsWellDefined": "ENSP00000495497.1:p.Arg193_Tyr521delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647337.2:c.577C>T" }, "RefSeq": { "hgvs": "NM_001024630.4:c.577C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495497.1:p.Arg193Ter" }, "RefSeq": { "hgvs": "NP_001019801.3:p.Arg193Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000359524.7:c.535C>T" ], "proteinEffect": { "hgvs": "ENSP00000352514.5:p.Arg179Ter", "hgvsWellDefined": "ENSP00000352514.5:p.Arg179_Tyr507delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264815" }, { "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000371432.7:c.577C>T" ], "proteinEffect": { "hgvs": "ENSP00000360486.4:p.Arg193Ter", "hgvsWellDefined": "ENSP00000360486.4:p.Arg193_Tyr499delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268576" }, { "coordinates": [ { "allele": "T", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000371436.10:c.577C>T" ], "proteinEffect": { "hgvs": "ENSP00000360491.6:p.Arg193Ter", "hgvsWellDefined": "ENSP00000360491.6:p.Arg193_Tyr499delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268578" }, { "coordinates": [ { "allele": "T", "end": 935, "referenceAllele": "C", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000371438.5:c.577C>T" ], "proteinEffect": { "hgvs": "ENSP00000360493.1:p.Arg193Ter", "hgvsWellDefined": "ENSP00000360493.1:p.Arg193_Tyr521delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268580" }, { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000465038.6:c.577C>T" ], "proteinEffect": { "hgvs": "ENSP00000420707.2:p.Arg193Ter", "hgvsWellDefined": "ENSP00000420707.2:p.Arg193_Tyr521delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS308728" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000478660.6:c.535C>T" ], "proteinEffect": { "hgvs": "ENSP00000460188.1:p.Arg179Ter", "hgvsWellDefined": "ENSP00000460188.1:p.Arg179_Arg276delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgAsnProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAlaArgSerArgTyrSerLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319220" }, { "coordinates": [ { "allele": "T", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000483377.5:c.*98C>T" ], "proteinEffect": { "hgvs": "ENSP00000461357.1:n.*98C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS322859" }, { "coordinates": [ { "allele": "T", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000576263.5:c.577C>T" ], "proteinEffect": { "hgvs": "ENSP00000458178.1:p.Arg193Ter", "hgvsWellDefined": "ENSP00000458178.1:p.Arg193_Asn542delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspSerGluProSerThrLeuAspSerGlnSerSerThrThrLeuPheLeuSerSerGluGluProGlyProSerThrAlaAlaLeuProSerProSerSerSerSerCysGluProGlnAlaPheSerProGlyProProAlaLeuProProLeuLeuProProLeuProAlaAlaSerAlaProProGlyProGlyAlaSerArgArgThrGlyArgTyrSerValValAlaSerSerProGluAlaAlaProArgLeuValAspTrpLeuProGlyCysProSerThrIleSerProSerThrArgGlyAspAspLysGluArgProProProValLeuAlaProAlaGluGlyProGluArgSerArgAlaProArgProSerThrAlaGlyArgGluGluGlyThrValAspAlaGlyThrSerProProProArgAlaArgProAlaAlaAlaAlaSerLeuGluAlaHisValGlyAspIleLeuValGluLeuArgThrMetAsnGlyHisLeuAspSerIleAlaArgAlaLeuThrLysLeuAlaSerSerLeuGlyProGlnProGluProLeuProAspValSerAspAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384416" }, { "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "ENST00000625924.1:c.535C>T" ], "proteinEffect": { "hgvs": "ENSP00000485863.1:p.Arg179Ter", "hgvsWellDefined": "ENSP00000485863.1:p.Arg179_Tyr485delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406646" }, { "@id": "http://reg.genome.network/allele/PA2825312891", "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "NM_001015051.3:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001015051.3:p.Arg193Ter", "hgvsWellDefined": "NP_001015051.3:p.Arg193_Tyr499delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008530" }, { "@id": "http://reg.genome.network/allele/PA915956773", "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "NM_001024630.3:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001019801.3:p.Arg193Ter", "hgvsWellDefined": "NP_001019801.3:p.Arg193_Tyr521delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008774" }, { "@id": "http://reg.genome.network/allele/PA2826602163", "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "NM_001278478.1:c.535C>T" ], "proteinEffect": { "hgvs": "NP_001265407.1:p.Arg179Ter", "hgvsWellDefined": "NP_001265407.1:p.Arg179_Tyr485delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021312" }, { "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XM_006715232.1:c.535C>T" ], "proteinEffect": { "hgvs": "XP_006715295.1:p.Arg179Ter", "hgvsWellDefined": "XP_006715295.1:p.Arg179_Tyr449delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgAsnProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071064" }, { "coordinates": [ { "allele": "T", "end": 1301, "referenceAllele": "C", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XM_011514960.1:c.781C>T" ], "proteinEffect": { "hgvs": "XP_011513262.1:p.Arg261Ter", "hgvsWellDefined": "XP_011513262.1:p.Arg261_Asn610delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspSerGluProSerThrLeuAspSerGlnSerSerThrThrLeuPheLeuSerSerGluGluProGlyProSerThrAlaAlaLeuProSerProSerSerSerSerCysGluProGlnAlaPheSerProGlyProProAlaLeuProProLeuLeuProProLeuProAlaAlaSerAlaProProGlyProGlyAlaSerArgArgThrGlyArgTyrSerValValAlaSerSerProGluAlaAlaProArgLeuValAspTrpLeuProGlyCysProSerThrIleSerProSerThrArgGlyAspAspLysGluArgProProProValLeuAlaProAlaGluGlyProGluArgSerArgAlaProArgProSerThrAlaGlyArgGluGluGlyThrValAspAlaGlyThrSerProProProArgAlaArgProAlaAlaAlaAlaSerLeuGluAlaHisValGlyAspIleLeuValGluLeuArgThrMetAsnGlyHisLeuAspSerIleAlaArgAlaLeuThrLysLeuAlaSerSerLeuGlyProGlnProGluProLeuProAspValSerAspAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082181" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XM_011514961.1:c.781C>T" ], "proteinEffect": { "hgvs": "XP_011513263.1:p.Arg261Ter", "hgvsWellDefined": "XP_011513263.1:p.Arg261_Tyr589delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082182" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XM_011514962.1:c.781C>T" ], "proteinEffect": { "hgvs": "XP_011513264.1:p.Arg261Ter", "hgvsWellDefined": "XP_011513264.1:p.Arg261_Tyr567delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082183" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "C", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XM_011514963.1:c.781C>T" ], "proteinEffect": { "hgvs": "XP_011513265.1:p.Arg261Ter", "hgvsWellDefined": "XP_011513265.1:p.Arg261_Asn552delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgAsnProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspSerGluProSerThrLeuAspSerGlnSerSerThrThrLeuPheLeuSerSerGluGluProGlyProSerThrAlaAlaLeuProSerProSerSerSerSerCysGluProGlnAlaPheSerProGlyProProAlaLeuProProLeuLeuProProLeuProAlaAlaSerAlaProProGlyProGlyAlaSerArgArgThrGlyArgTyrSerValValAlaSerSerProGluAlaAlaProArgLeuValAspTrpLeuProGlyCysProSerThrIleSerProSerThrArgGlyAspAspLysGluArgProProProValLeuAlaProAlaGluGlyProGluArgSerArgAlaProArgProSerThrAlaGlyArgGluGluGlyThrValAspAlaGlyThrSerProProProArgAlaArgProAlaAlaAlaAlaSerLeuGluAlaHisValGlyAspIleLeuValGluLeuArgThrMetAsnGlyHisLeuAspSerIleAlaArgAlaLeuThrLysLeuAlaSerSerLeuGlyProGlnProGluProLeuProAspValSerAspAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082184" }, { "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "C", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XM_011514964.1:c.781C>T" ], "proteinEffect": { "hgvs": "XP_011513266.1:p.Arg261Ter", "hgvsWellDefined": "XP_011513266.1:p.Arg261_Phe508delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyHisProAlaLeuGlnAspSerValTrpGlySerTrpThrCysAlaSerCysLeuGlyValSerLeuGlyIleHisProAspSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082185" }, { "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XM_011514965.1:c.781C>T" ], "proteinEffect": { "hgvs": "XP_011513267.1:p.Arg261Ter", "hgvsWellDefined": "XP_011513267.1:p.Arg261_Arg416delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAlaArgSerArgTyrSerLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082186" }, { "coordinates": [ { "allele": "T", "end": 235, "referenceAllele": "C", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XM_011514966.1:c.109C>T" ], "proteinEffect": { "hgvs": "XP_011513268.1:p.Arg37Ter", "hgvsWellDefined": "XP_011513268.1:p.Arg37_Asn386delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspSerGluProSerThrLeuAspSerGlnSerSerThrThrLeuPheLeuSerSerGluGluProGlyProSerThrAlaAlaLeuProSerProSerSerSerSerCysGluProGlnAlaPheSerProGlyProProAlaLeuProProLeuLeuProProLeuProAlaAlaSerAlaProProGlyProGlyAlaSerArgArgThrGlyArgTyrSerValValAlaSerSerProGluAlaAlaProArgLeuValAspTrpLeuProGlyCysProSerThrIleSerProSerThrArgGlyAspAspLysGluArgProProProValLeuAlaProAlaGluGlyProGluArgSerArgAlaProArgProSerThrAlaGlyArgGluGluGlyThrValAspAlaGlyThrSerProProProArgAlaArgProAlaAlaAlaAlaSerLeuGluAlaHisValGlyAspIleLeuValGluLeuArgThrMetAsnGlyHisLeuAspSerIleAlaArgAlaLeuThrLysLeuAlaSerSerLeuGlyProGlnProGluProLeuProAspValSerAspAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082187" }, { "coordinates": [ { "allele": "T", "end": 1298, "referenceAllele": "C", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XM_011514967.1:c.781C>T" ], "proteinEffect": { "hgvs": "XP_011513269.1:p.Arg261Ter", "hgvsWellDefined": "XP_011513269.1:p.Arg261_Ile344delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgAsnArgValLysProArgLeuAsnProSerTrpPheIleCysLeuSerGlyHisProGluGlyPheThrGlyAsnGlnPheGlnGlyThrAspArgSerLeuMetThrLeuAsnLeuValCysSerLeuThrAlaSerValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082188" }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "C", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XM_011514968.1:c.781C>T" ], "proteinEffect": { "hgvs": "XP_011513270.1:p.Arg261Ter", "hgvsWellDefined": "XP_011513270.1:p.Arg261_Asn319delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgAsnAlaPheGluProArgProGluProSerLeuIleGluLysCysGlnThrTrpValGluSerValAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082189" }, { "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "XR_926323.1:n.1293C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS122843" }, { "@id": "http://reg.genome.network/allele/PA915956773", "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "NM_001024630.4:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001019801.3:p.Arg193Ter", "hgvsWellDefined": "NP_001019801.3:p.Arg193_Tyr521delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662993", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647337.2:c.577C>T" }, "RefSeq": { "hgvs": "NM_001024630.4:c.577C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495497.1:p.Arg193Ter" }, "RefSeq": { "hgvs": "NP_001019801.3:p.Arg193Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826602163", "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "NM_001278478.2:c.535C>T" ], "proteinEffect": { "hgvs": "NP_001265407.1:p.Arg179Ter", "hgvsWellDefined": "NP_001265407.1:p.Arg179_Tyr485delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681492" }, { "@id": "http://reg.genome.network/allele/PA2828329121", "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "NM_001369405.1:c.535C>T" ], "proteinEffect": { "hgvs": "NP_001356334.1:p.Arg179Ter", "hgvsWellDefined": "NP_001356334.1:p.Arg179_Tyr507delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691630" }, { "@id": "http://reg.genome.network/allele/PA2825312891", "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN010472", "geneNCBI_id": 860, "geneSymbol": "RUNX2", "hgvs": [ "NM_001015051.4:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001015051.3:p.Arg193Ter", "hgvsWellDefined": "NP_001015051.3:p.Arg193_Tyr499delinsGlyLysSerPheThrLeuThrIleThrValPheThrAsnProProGlnValAlaThrTyrHisArgAlaIleLysValThrValAspGlyProArgGluProArgArgHisArgGlnLysLeuAspAspSerLysProSerLeuPheSerAspArgLeuSerAspLeuGlyArgIleProHisProSerMetArgValGlyValProProGlnAsnProArgProSerLeuAsnSerAlaProSerProPheAsnProGlnGlyGlnSerGlnIleThrAspProArgGlnAlaGlnSerSerProProTrpSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711368" } ], "type": "nucleotide" }