{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA233272",
  "communityStandardTitle": [
    "NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166345[alleleid]",
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        "preferredName": "NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156551",
        "RCV": [
          "RCV000144716",
          "RCV000144955",
          "RCV001334971"
        ],
        "variationId": 156551
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220300169G>A?assembly=hg19",
        "id": "chr1:g.220300169G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220126827G>A?assembly=hg38",
        "id": "chr1:g.220126827G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373436822",
        "rs": 373436822
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220300169-G-A?dataset=gnomad_r2_1",
        "id": "1-220300169-G-A",
        "variant": "1:220300169 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220126827-G-A?dataset=gnomad_r4",
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        "variant": "1:220126827 G / A"
      }
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    {
      "chromosome": "1",
      "coordinates": [
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      ],
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        "CM000663.2:g.220126827G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
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      ],
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 218366792,
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          "start": 218366791
        }
      ],
      "hgvs": [
        "NC_000001.9:g.218366792G>A"
      ],
      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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          "start": 37714
        }
      ],
      "hgvs": [
        "NG_041799.1:g.37715G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005869"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
        {
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          "end": 1906,
          "referenceAllele": "G",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029685",
      "geneNCBI_id": 55699,
      "geneSymbol": "IARS2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000355889.2:p.Trp607_Lys1012delinsSerTyrValLeuProGlyProAspGlnArgAlaAspLeuTyrLeuGluGlyLysAspGlnLeuGlyGlyTrpPheGlnSerSerLeuLeuThrSerValAlaAlaArgLysArgAlaProTyrLysThrValIleValHisGlyPheThrLeuGlyGluLysGlyGluLysMetSerLysSerLeuGlyAsnValIleHisProAspValValValAsnGlyGlyGlnAspGlnSerLysGluProProTyrGlyAlaAspValLeuArgTrpTrpValAlaAspSerAsnValPheThrGluValAlaIleGlyProSerValLeuAsnAlaAlaArgAspAspIleSerLysLeuArgAsnThrLeuArgPheLeuLeuGlyAsnValAlaAspPheAsnProGluThrAspSerIleProValAsnAspMetTyrValIleAspGlnTyrMetLeuHisLeuLeuGlnAspLeuAlaAsnLysIleThrGluLeuTyrLysGlnTyrAspPheGlyLysValValArgLeuLeuArgThrPheTyrThrArgGluLeuSerAsnPheTyrPheSerIleIleLysAspArgLeuTyrCysGluLysGluAsnAspProLysArgArgSerCysGlnThrAlaLeuValGluIleLeuAspValIleValArgSerPheAlaProIleLeuProHisLeuAlaGluGluValPheGlnHisIleProTyrIleLysGluProLysSerValPheArgThrGlyTrpIleSerThrSerSerIleTrpLysLysProGlyLeuGluGluAlaValGluSerAlaCysAlaMetArgAspSerPheLeuGlySerIleProGlyLysAsnAlaAlaGluTyrLysValIleThrValIleGluProGlyLeuLeuPheGluIleIleGluMetLeuGlnSerGluGluThrSerSerThrSerGlnLeuAsnGluLeuMetMetAlaSerGluSerThrLeuLeuAlaGlnGluProArgGluMetThrAlaAspValIleGluLeuLysGlyLysPheLeuIleAsnLeuGluGlyGlyAspIleArgGluGluSerSerTyrLysValIleValMetProThrThrLysGluLysCysProArgCysTrpLysTyrThrAlaGluSerSerAspThrLeuCysProArgCysAlaGluValValSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000366922.3:c.1821G>A"
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          "RefSeq": {
            "hgvs": "NM_018060.4:c.1821G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355889.2:p.Trp607Ter"
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        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "referenceAllele": "G",
          "start": 1935
        }
      ],
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      "geneNCBI_id": 55699,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
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          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029685",
      "geneNCBI_id": 55699,
      "geneSymbol": "IARS2",
      "hgvs": [
        "ENST00000490891.1:n.205G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA233273",
      "coordinates": [
        {
          "allele": "A",
          "end": 1925,
          "referenceAllele": "G",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029685",
      "geneNCBI_id": 55699,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_060530.3:p.Trp607Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA233273",
      "coordinates": [
        {
          "allele": "A",
          "end": 1906,
          "referenceAllele": "G",
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        }
      ],
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      "hgvs": [
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        "hgvsWellDefined": "NP_060530.3:p.Trp607_Lys1012delinsSerTyrValLeuProGlyProAspGlnArgAlaAspLeuTyrLeuGluGlyLysAspGlnLeuGlyGlyTrpPheGlnSerSerLeuLeuThrSerValAlaAlaArgLysArgAlaProTyrLysThrValIleValHisGlyPheThrLeuGlyGluLysGlyGluLysMetSerLysSerLeuGlyAsnValIleHisProAspValValValAsnGlyGlyGlnAspGlnSerLysGluProProTyrGlyAlaAspValLeuArgTrpTrpValAlaAspSerAsnValPheThrGluValAlaIleGlyProSerValLeuAsnAlaAlaArgAspAspIleSerLysLeuArgAsnThrLeuArgPheLeuLeuGlyAsnValAlaAspPheAsnProGluThrAspSerIleProValAsnAspMetTyrValIleAspGlnTyrMetLeuHisLeuLeuGlnAspLeuAlaAsnLysIleThrGluLeuTyrLysGlnTyrAspPheGlyLysValValArgLeuLeuArgThrPheTyrThrArgGluLeuSerAsnPheTyrPheSerIleIleLysAspArgLeuTyrCysGluLysGluAsnAspProLysArgArgSerCysGlnThrAlaLeuValGluIleLeuAspValIleValArgSerPheAlaProIleLeuProHisLeuAlaGluGluValPheGlnHisIleProTyrIleLysGluProLysSerValPheArgThrGlyTrpIleSerThrSerSerIleTrpLysLysProGlyLeuGluGluAlaValGluSerAlaCysAlaMetArgAspSerPheLeuGlySerIleProGlyLysAsnAlaAlaGluTyrLysValIleThrValIleGluProGlyLeuLeuPheGluIleIleGluMetLeuGlnSerGluGluThrSerSerThrSerGlnLeuAsnGluLeuMetMetAlaSerGluSerThrLeuLeuAlaGlnGluProArgGluMetThrAlaAspValIleGluLeuLysGlyLysPheLeuIleAsnLeuGluGlyGlyAspIleArgGluGluSerSerTyrLysValIleValMetProThrThrLysGluLysCysProArgCysTrpLysTyrThrAlaGluSerSerAspThrLeuCysProArgCysAlaGluValValSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366922.3:c.1821G>A"
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          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_060530.3:p.Trp607Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}