{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354406560",
  "communityStandardTitle": [
    "NM_032638.5(GATA2):c.538G>T (p.Glu180Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1173932[alleleid]",
        "alleleId": 1173932,
        "preferredName": "NM_032638.5(GATA2):c.538G>T (p.Glu180Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1184210",
        "RCV": [
          "RCV001542183"
        ],
        "variationId": 1184210
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128204903C>A?assembly=hg19",
        "id": "chr3:g.128204903C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128486060C>A?assembly=hg38",
        "id": "chr3:g.128486060C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2107672419",
        "rs": 2107672419
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 128486060,
          "referenceAllele": "C",
          "start": 128486059
        }
      ],
      "hgvs": [
        "NC_000003.12:g.128486060C>A",
        "CM000665.2:g.128486060C>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 128204903,
          "referenceAllele": "C",
          "start": 128204902
        }
      ],
      "hgvs": [
        "NC_000003.11:g.128204903C>A",
        "CM000665.1:g.128204903C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 129687593,
          "referenceAllele": "C",
          "start": 129687592
        }
      ],
      "hgvs": [
        "NC_000003.10:g.129687593C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12128,
          "referenceAllele": "G",
          "start": 12127
        }
      ],
      "hgvs": [
        "NG_029334.1:g.12128G>T",
        "LRG_295:g.12128G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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        }
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      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
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        "ENST00000487848.6:c.538G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000417074.1:p.Glu180_Gly480delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
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          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.538G>T"
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        },
        "protein": {
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            "hgvs": "ENSP00000417074.1:p.Glu180Ter"
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          }
        }
      }
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    {
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          "start": 1300
        }
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      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696466.1:c.820G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512647.1:p.Glu274Ter",
        "hgvsWellDefined": "ENSP00000512647.1:p.Glu274_Gly574delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907918"
    },
    {
      "coordinates": [
        {
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          "end": 886,
          "referenceAllele": "G",
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      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000345681.2:p.Glu180_Gly480delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747961",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.538G>T"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.538G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Glu180Ter"
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          "RefSeq": {
            "hgvs": "NP_116027.2:p.Glu180Ter"
          }
        }
      }
    },
    {
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          "referenceAllele": "G",
          "start": 869
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000345681.2:p.Glu180_Gly480delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000430265.6:c.538G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400259.2:p.Glu180Ter",
        "hgvsWellDefined": "ENSP00000400259.2:p.Glu180_Gly466delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.5:c.538G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Glu180Ter",
        "hgvsWellDefined": "ENSP00000417074.1:p.Glu180_Gly480delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896745",
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.1:c.538G>T",
        "LRG_295t1:c.538G>T"
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      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Glu180Ter",
        "hgvsWellDefined": "NP_001139133.1:p.Glu180_Gly480delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897732",
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145662.1:c.538G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139134.1:p.Glu180Ter",
        "hgvsWellDefined": "NP_001139134.1:p.Glu180_Gly466delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293734",
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.4:c.538G>T",
        "LRG_295t2:c.538G>T"
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      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Glu180Ter",
        "hgvsWellDefined": "NP_116027.2:p.Glu180_Gly480delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896745",
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.2:c.538G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Glu180Ter",
        "hgvsWellDefined": "NP_001139133.1:p.Glu180_Gly480delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.538G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.538G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Glu180Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Glu180Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293734",
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.5:c.538G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Glu180Ter",
        "hgvsWellDefined": "NP_116027.2:p.Glu180_Gly480delinsValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.538G>T"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.538G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Glu180Ter"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Glu180Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}