{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA435510230",
  "communityStandardTitle": [
    "NM_032638.5(GATA2):c.849C>A (p.Arg283=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3100390[alleleid]",
        "alleleId": 3100390,
        "preferredName": "NM_032638.5(GATA2):c.849C>A (p.Arg283=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2940633",
        "RCV": [
          "RCV003799943"
        ],
        "variationId": 2940633
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128204592G>T?assembly=hg19",
        "id": "chr3:g.128204592G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2472929740",
        "rs": 2472929740
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128485749-G-T?dataset=gnomad_r4",
        "id": "3-128485749-G-T",
        "variant": "3:128485749 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 128485749,
          "referenceAllele": "G",
          "start": 128485748
        }
      ],
      "hgvs": [
        "NC_000003.12:g.128485749G>T",
        "CM000665.2:g.128485749G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 128204592,
          "referenceAllele": "G",
          "start": 128204591
        }
      ],
      "hgvs": [
        "NC_000003.11:g.128204592G>T",
        "CM000665.1:g.128204592G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 129687282,
          "referenceAllele": "G",
          "start": 129687281
        }
      ],
      "hgvs": [
        "NC_000003.10:g.129687282G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12439,
          "referenceAllele": "C",
          "start": 12438
        }
      ],
      "hgvs": [
        "NG_029334.1:g.12439C>A",
        "LRG_295:g.12439C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.6:c.849C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Arg283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.849C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.849C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Arg283="
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Arg283="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696466.1:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512647.1:p.Arg377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.7:c.849C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Arg283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747961",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.849C>A"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.849C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Arg283="
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Arg283="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.6:c.849C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Arg283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000430265.6:c.849C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400259.2:p.Arg283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.5:c.849C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Arg283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896962",
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.1:c.849C>A",
        "LRG_295t1:c.849C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Arg283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897955",
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145662.1:c.849C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139134.1:p.Arg283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830096002",
      "coordinates": [
        {
          "allele": "A",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.4:c.849C>A",
        "LRG_295t2:c.849C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Arg283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896962",
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.2:c.849C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Arg283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.849C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.849C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Arg283="
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Arg283="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830096002",
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.5:c.849C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Arg283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.849C>A"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.849C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Arg283="
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Arg283="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}