{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129208",
  "communityStandardTitle": [
    "NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1235393",
        "active": true,
        "id": "COSM1235393"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39403[alleleid]",
        "alleleId": 39403,
        "preferredName": "NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30446",
        "RCV": [
          "RCV000023399"
        ],
        "variationId": 30446
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.111856571G>T?assembly=hg19",
        "id": "chr12:g.111856571G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.111418767G>T?assembly=hg38",
        "id": "chr12:g.111418767G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202080221",
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/12-111418767-G-T?dataset=gnomad_r4",
        "id": "12-111418767-G-T",
        "variant": "12:111418767 G / T"
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    ]
  },
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "12",
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    },
    {
      "chromosome": "12",
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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        }
      ],
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        "LRG_621:g.17820G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS003490"
    }
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      "referenceSequence": "http://reg.genome.network/refseq/RS747974",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261289"
    },
    {
      "coordinates": [
        {
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      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS368356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129210",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030568"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060390"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011536024.1:p.Glu208_Cys353delinsAlaSerMetAspSerGlyAlaArgTrpGlnArgGlyArgLeuAlaLeuArgArgAlaProGlyProAspGlyProAspArgValLeuGluLeuPheAspProProLysTrpProGluProGluLeuSerArgLeuArgPheArgLeuLysGlnGlyLeuSerCysAlaHisValProThrArgCysAsnLeuAlaGlyAlaSerGlyIleGlyHisProTyrHisGlnSerTyrHisLysArgLysGlyArgGlyLysProProProGluGlnIleProAsnArgLysGlnLeuAlaProTrpLeuGlnSerAlaProAlaGlnGluAlaSerAlaGlyValGlnGlyProSerTyrLysGlnLeuAlaProAlaSerArgArgSerGlyGlyAlaHisGlyLeuArgCysLeuThrThrPheThrProLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "G",
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      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_005253875.1:p.Glu208Ter",
        "hgvsWellDefined": "XP_005253875.1:p.Glu208_Leu615delinsAlaSerMetAspSerGlyAlaArgTrpGlnArgGlyArgLeuAlaLeuArgArgAlaProGlyProAspGlyProAspArgValLeuGluLeuPheAspProProLysTrpProGluProGluLeuSerArgLeuArgPheArgLeuLysGlnGlyLeuSerCysAlaHisValProThrArgCysAsnLeuAlaGlyAlaSerGlyIleGlyHisProTyrHisGlnSerSerArgProLysLeuGlnAlaAlaCysSerSerIleGlnGluValArgTrpCysThrArgLeuGluMetProAspAsnLeuTyrThrPheValLeuLysValLysAspArgThrAspIleIlePheGluValGlyAspGluGlnGlnLeuAsnSerTrpMetAlaGluLeuSerGluCysThrGlyArgGlyLeuGluSerThrGluAlaGluMetHisIleProSerAlaLeuGluProSerThrSerSerSerProArgGlySerThrAspSerLeuAsnGlnGlyAlaSerProGlyGlyLeuLeuAspProAlaCysGlnLysThrAspHisPheLeuSerCysTyrProTrpPheHisGlyProIleSerArgValLysAlaAlaGlnLeuValGlnLeuGlnGlyProAspAlaHisGlyValPheLeuValArgGlnSerGluThrArgArgGlyGluTyrValLeuThrPheAsnPheGlnGlyIleAlaLysHisLeuArgLeuSerLeuThrGluArgGlyGlnCysArgValGlnHisLeuHisPheProSerValValAspMetLeuHisHisPheGlnArgSerProIleProLeuGluCysGlyAlaAlaCysAspValArgLeuSerSerTyrValValValValSerGlnProProGlySerCysAsnThrValLeuPheProPheSerLeuProHisTrpAspSerGluSerLeuProHisTrpGlySerGluLeuGlyLeuProHisLeuSerSerSerGlyCysProArgGlyLeuSerProGluGlyLeuProGlyArgSerSerProProGluGlnIlePheHisLeuValProSerProGluGluLeuAlaAsnSerLeuGlnHisLeuGluHisGluProValAsnArgAlaArgAspSerAspTyrGluMetAspSerSerSerArgSerHisLeuArgAlaIleAspAsnGlnTyrThrProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "G",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029605",
      "geneNCBI_id": 10019,
      "geneSymbol": "SH2B3",
      "hgvs": [
        "XM_005253819.4:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253876.1:p.Glu208Ter",
        "hgvsWellDefined": "XP_005253876.1:p.Glu208_Leu576delinsAlaSerMetAspSerGlyAlaArgTrpGlnArgGlyArgLeuAlaLeuArgArgAlaProGlyProAspGlyProAspArgValLeuGluLeuPheAspProProLysSerSerArgProLysLeuGlnAlaAlaCysSerSerIleGlnGluValArgTrpCysThrArgLeuGluMetProAspAsnLeuTyrThrPheValLeuLysValLysAspArgThrAspIleIlePheGluValGlyAspGluGlnGlnLeuAsnSerTrpMetAlaGluLeuSerGluCysThrGlyArgGlyArgLeuGluSerThrGluAlaGluMetHisIleProSerAlaLeuGluProSerThrSerSerSerProArgGlySerThrAspSerLeuAsnGlnGlyAlaSerProGlyGlyLeuLeuAspProAlaCysGlnLysThrAspHisPheLeuSerCysTyrProTrpPheHisGlyProIleSerArgValLysAlaAlaGlnLeuValGlnLeuGlnGlyProAspAlaHisGlyValPheLeuValArgGlnSerGluThrArgArgGlyGluTyrValLeuThrPheAsnPheGlnGlyIleAlaLysHisLeuArgLeuSerLeuThrGluArgGlyGlnCysArgValGlnHisLeuHisPheProSerValValAspMetLeuHisHisPheGlnArgSerProIleProLeuGluCysGlyAlaAlaCysAspValArgLeuSerSerTyrValValValValSerGlnProProGlySerCysAsnThrValLeuPheProPheSerLeuProHisTrpAspSerGluSerLeuProHisTrpGlySerGluLeuGlyLeuProHisLeuSerSerSerGlyCysProArgGlyLeuSerProGluGlyLeuProGlyArgSerSerProProGluGlnIlePheHisLeuValProSerProGluGluLeuAlaAsnSerLeuGlnHisLeuGluHisGluProValAsnArgAlaArgAspSerAspTyrGluMetAspSerSerSerArgSerHisLeuArgAlaIleAspAsnGlnTyrThrProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "G",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029605",
      "geneNCBI_id": 10019,
      "geneSymbol": "SH2B3",
      "hgvs": [
        "XM_011537719.2:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536021.1:p.Glu208Ter",
        "hgvsWellDefined": "XP_011536021.1:p.Glu208_Leu616delinsAlaSerMetAspSerGlyAlaArgTrpGlnArgGlyArgLeuAlaLeuArgArgAlaProGlyProAspGlyProAspArgValLeuGluLeuPheAspProProLysTrpProGluProGluLeuSerArgLeuArgPheArgLeuLysGlnGlyLeuSerCysAlaHisValProThrArgCysAsnLeuAlaGlyAlaSerGlyIleGlyHisProTyrHisGlnSerSerArgProLysLeuGlnAlaAlaCysSerSerIleGlnGluValArgTrpCysThrArgLeuGluMetProAspAsnLeuTyrThrPheValLeuLysValLysAspArgThrAspIleIlePheGluValGlyAspGluGlnGlnLeuAsnSerTrpMetAlaGluLeuSerGluCysThrGlyArgGlyArgLeuGluSerThrGluAlaGluMetHisIleProSerAlaLeuGluProSerThrSerSerSerProArgGlySerThrAspSerLeuAsnGlnGlyAlaSerProGlyGlyLeuLeuAspProAlaCysGlnLysThrAspHisPheLeuSerCysTyrProTrpPheHisGlyProIleSerArgValLysAlaAlaGlnLeuValGlnLeuGlnGlyProAspAlaHisGlyValPheLeuValArgGlnSerGluThrArgArgGlyGluTyrValLeuThrPheAsnPheGlnGlyIleAlaLysHisLeuArgLeuSerLeuThrGluArgGlyGlnCysArgValGlnHisLeuHisPheProSerValValAspMetLeuHisHisPheGlnArgSerProIleProLeuGluCysGlyAlaAlaCysAspValArgLeuSerSerTyrValValValValSerGlnProProGlySerCysAsnThrValLeuPheProPheSerLeuProHisTrpAspSerGluSerLeuProHisTrpGlySerGluLeuGlyLeuProHisLeuSerSerSerGlyCysProArgGlyLeuSerProGluGlyLeuProGlyArgSerSerProProGluGlnIlePheHisLeuValProSerProGluGluLeuAlaAsnSerLeuGlnHisLeuGluHisGluProValAsnArgAlaArgAspSerAspTyrGluMetAspSerSerSerArgSerHisLeuArgAlaIleAspAsnGlnTyrThrProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "referenceAllele": "G",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029605",
      "geneNCBI_id": 10019,
      "geneSymbol": "SH2B3",
      "hgvs": [
        "XM_011537720.3:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536022.1:p.Glu208Ter",
        "hgvsWellDefined": "XP_011536022.1:p.Glu208_Leu616delinsAlaSerMetAspSerGlyAlaArgTrpGlnArgGlyArgLeuAlaLeuArgArgAlaProGlyProAspGlyProAspArgValLeuGluLeuPheAspProProLysTrpProGluProGluLeuSerArgLeuArgPheArgLeuLysGlnGlyLeuSerCysAlaHisValProThrArgCysAsnLeuAlaGlyAlaSerGlyIleGlyHisProTyrHisGlnSerSerArgProLysLeuGlnAlaAlaCysSerSerIleGlnGluValArgTrpCysThrArgLeuGluMetProAspAsnLeuTyrThrPheValLeuLysValLysAspArgThrAspIleIlePheGluValGlyAspGluGlnGlnLeuAsnSerTrpMetAlaGluLeuSerGluCysThrGlyArgGlyArgLeuGluSerThrGluAlaGluMetHisIleProSerAlaLeuGluProSerThrSerSerSerProArgGlySerThrAspSerLeuAsnGlnGlyAlaSerProGlyGlyLeuLeuAspProAlaCysGlnLysThrAspHisPheLeuSerCysTyrProTrpPheHisGlyProIleSerArgValLysAlaAlaGlnLeuValGlnLeuGlnGlyProAspAlaHisGlyValPheLeuValArgGlnSerGluThrArgArgGlyGluTyrValLeuThrPheAsnPheGlnGlyIleAlaLysHisLeuArgLeuSerLeuThrGluArgGlyGlnCysArgValGlnHisLeuHisPheProSerValValAspMetLeuHisHisPheGlnArgSerProIleProLeuGluCysGlyAlaAlaCysAspValArgLeuSerSerTyrValValValValSerGlnProProGlySerCysAsnThrValLeuPheProPheSerLeuProHisTrpAspSerGluSerLeuProHisTrpGlySerGluLeuGlyLeuProHisLeuSerSerSerGlyCysProArgGlyLeuSerProGluGlyLeuProGlyArgSerSerProProGluGlnIlePheHisLeuValProSerProGluGluLeuAlaAsnSerLeuGlnHisLeuGluHisGluProValAsnArgAlaArgAspSerAspTyrGluMetAspSerSerSerArgSerHisLeuArgAlaIleAspAsnGlnTyrThrProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029605",
      "geneNCBI_id": 10019,
      "geneSymbol": "SH2B3",
      "hgvs": [
        "XM_024448790.1:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304558.1:p.Glu208Ter",
        "hgvsWellDefined": "XP_024304558.1:p.Glu208_Ser314delinsAlaSerMetAspSerGlyAlaArgTrpGlnArgGlyArgLeuAlaLeuArgArgAlaProGlyProAspGlyProAspArgValLeuGluLeuPheAspProProLysTrpProGluProGluLeuSerArgLeuArgPheArgLeuLysGlnGlyLeuSerCysAlaHisValProThrArgCysAsnLeuAlaGlyAlaSerGlyIleGlyHisProTyrHisGlnGlyAspSerTrpGlyAspTyrArgGlnThrGlnAlaTrpLeuGluGluArgAlaSerGlyThrSerLeuGluTyrProAsnLeuValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029605",
      "geneNCBI_id": 10019,
      "geneSymbol": "SH2B3",
      "hgvs": [
        "XR_001748535.1:n.1023G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "referenceAllele": "G",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029605",
      "geneNCBI_id": 10019,
      "geneSymbol": "SH2B3",
      "hgvs": [
        "XR_001748536.1:n.1022G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029605",
      "geneNCBI_id": 10019,
      "geneSymbol": "SH2B3",
      "hgvs": [
        "XR_002957278.1:n.1019G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129210",
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029605",
      "geneNCBI_id": 10019,
      "geneSymbol": "SH2B3",
      "hgvs": [
        "NM_005475.3:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005466.1:p.Glu208Ter",
        "hgvsWellDefined": "NP_005466.1:p.Glu208_Leu575delinsAlaSerMetAspSerGlyAlaArgTrpGlnArgGlyArgLeuAlaLeuArgArgAlaProGlyProAspGlyProAspArgValLeuGluLeuPheAspProProLysSerSerArgProLysLeuGlnAlaAlaCysSerSerIleGlnGluValArgTrpCysThrArgLeuGluMetProAspAsnLeuTyrThrPheValLeuLysValLysAspArgThrAspIleIlePheGluValGlyAspGluGlnGlnLeuAsnSerTrpMetAlaGluLeuSerGluCysThrGlyArgGlyLeuGluSerThrGluAlaGluMetHisIleProSerAlaLeuGluProSerThrSerSerSerProArgGlySerThrAspSerLeuAsnGlnGlyAlaSerProGlyGlyLeuLeuAspProAlaCysGlnLysThrAspHisPheLeuSerCysTyrProTrpPheHisGlyProIleSerArgValLysAlaAlaGlnLeuValGlnLeuGlnGlyProAspAlaHisGlyValPheLeuValArgGlnSerGluThrArgArgGlyGluTyrValLeuThrPheAsnPheGlnGlyIleAlaLysHisLeuArgLeuSerLeuThrGluArgGlyGlnCysArgValGlnHisLeuHisPheProSerValValAspMetLeuHisHisPheGlnArgSerProIleProLeuGluCysGlyAlaAlaCysAspValArgLeuSerSerTyrValValValValSerGlnProProGlySerCysAsnThrValLeuPheProPheSerLeuProHisTrpAspSerGluSerLeuProHisTrpGlySerGluLeuGlyLeuProHisLeuSerSerSerGlyCysProArgGlyLeuSerProGluGlyLeuProGlyArgSerSerProProGluGlnIlePheHisLeuValProSerProGluGluLeuAlaAsnSerLeuGlnHisLeuGluHisGluProValAsnArgAlaArgAspSerAspTyrGluMetAspSerSerSerArgSerHisLeuArgAlaIleAspAsnGlnTyrThrProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341259.7:c.622G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005475.3:c.622G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345492.2:p.Glu208Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005466.1:p.Glu208Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}