{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2135602", "communityStandardTitle": [ "NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=495125[alleleid]", "alleleId": 495125, "preferredName": "NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/503680", "RCV": [ "RCV000599259", "RCV001290145", "RCV001335583" ], "variationId": 503680 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-223096922-G-A", "id": "2-223096922-G-A", "variant": "2:223096922 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.223096922G>A?assembly=hg19", "id": "chr2:g.223096922G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.222232203G>A?assembly=hg38", "id": "chr2:g.222232203G>A" } ], "dbSNP": [ { "@id": 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"http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000409551.7:c.664C>T" ], "proteinEffect": { "hgvs": "ENSP00000386750.3:p.Arg222Ter", "hgvsWellDefined": 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"referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181459.3:c.667C>T" ], "proteinEffect": { "hgvs": "NP_852124.1:p.Arg223Ter", "hgvsWellDefined": "NP_852124.1:p.Arg223_Gln505delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043715" }, { "@id": "http://reg.genome.network/allele/PA2830389740", "coordinates": [ { "allele": "T", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181460.3:c.667C>T" ], "proteinEffect": { "hgvs": "NP_852125.1:p.Arg223Ter", "hgvsWellDefined": "NP_852125.1:p.Arg223_Phe407delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043716" }, { "@id": "http://reg.genome.network/allele/PA916077425", "coordinates": [ { "allele": "T", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181461.3:c.667C>T" ], "proteinEffect": { "hgvs": "NP_852126.1:p.Arg223Ter", "hgvsWellDefined": "NP_852126.1:p.Arg223_Lys403delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043717" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511278.1:c.811C>T" ], "proteinEffect": { "hgvs": "XP_011509580.1:p.Arg271Ter", "hgvsWellDefined": "XP_011509580.1:p.Arg271_Gln553delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078539" }, { "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511279.1:c.103C>T" ], "proteinEffect": { "hgvs": "XP_011509581.1:p.Arg35Ter", "hgvsWellDefined": "XP_011509581.1:p.Arg35_Gln317delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078540" }, { "coordinates": [ { "allele": "A", "end": 287, "endIntronDirection": "+", "endIntronOffset": 10233, "referenceAllele": "G", "start": 287, "startIntronDirection": "+", "startIntronOffset": 10232 } ], "hgvs": [ "XR_923945.1:n.287+10233G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121005" }, { "@id": "http://reg.genome.network/allele/PA2825603942", "coordinates": [ { "allele": "T", "end": 1047, "referenceAllele": "C", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_001127366.3:c.664C>T" ], "proteinEffect": { "hgvs": "NP_001120838.1:p.Arg222Ter", "hgvsWellDefined": "NP_001120838.1:p.Arg222_Ala483delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676873" }, { "@id": "http://reg.genome.network/allele/PA658807014", "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181457.4:c.667C>T" ], "proteinEffect": { "hgvs": "NP_852122.1:p.Arg223Ter", "hgvsWellDefined": "NP_852122.1:p.Arg223_Phe479delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700946" }, { "@id": "http://reg.genome.network/allele/PA2830389091", "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181458.4:c.667C>T" ], "proteinEffect": { "hgvs": "NP_852123.1:p.Arg223Ter", "hgvsWellDefined": "NP_852123.1:p.Arg223_Ala484delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700947", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000392070.7:c.667C>T" }, "RefSeq": { "hgvs": "NM_181458.4:c.667C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375922.3:p.Arg223Ter" }, "RefSeq": { "hgvs": "NP_852123.1:p.Arg223Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830389451", "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181459.4:c.667C>T" ], "proteinEffect": { "hgvs": "NP_852124.1:p.Arg223Ter", "hgvsWellDefined": "NP_852124.1:p.Arg223_Gln505delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700948" }, { "@id": "http://reg.genome.network/allele/PA2830389740", "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181460.4:c.667C>T" ], "proteinEffect": { "hgvs": "NP_852125.1:p.Arg223Ter", "hgvsWellDefined": "NP_852125.1:p.Arg223_Phe407delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700949" }, { "@id": "http://reg.genome.network/allele/PA916077425", "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181461.4:c.667C>T" ], "proteinEffect": { "hgvs": "NP_852126.1:p.Arg223Ter", "hgvsWellDefined": "NP_852126.1:p.Arg223_Lys403delinsThrThrPheThrAlaGluGlnLeuGluGluLeuGluArgAlaPheGluArgThrHisTyrProAspIleTyrThrArgGluGluLeuAlaGlnArgAlaLysLeuThrGluAlaArgValGlnValTrpPheSerAsnArgArgAlaArgTrpArgLysGlnAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700950" } ], "type": "nucleotide" }