{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2599980",
  "communityStandardTitle": [
    "NM_032638.5(GATA2):c.669G>A (p.Met223Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=393317[alleleid]",
        "alleleId": 393317,
        "preferredName": "NM_032638.5(GATA2):c.669G>A (p.Met223Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/404079",
        "RCV": [
          "RCV000470368",
          "RCV001785615",
          "RCV003418151"
        ],
        "variationId": 404079
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-128204772-C-T",
        "id": "3-128204772-C-T",
        "variant": "3:128204772 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128204772C>T?assembly=hg19",
        "id": "chr3:g.128204772C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128485929C>T?assembly=hg38",
        "id": "chr3:g.128485929C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140382420",
        "rs": 140382420
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128204772-C-T?dataset=gnomad_r2_1",
        "id": "3-128204772-C-T",
        "variant": "3:128204772 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128485929-C-T?dataset=gnomad_r3",
        "id": "3-128485929-C-T",
        "variant": "3:128485929 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128485929-C-T?dataset=gnomad_r4",
        "id": "3-128485929-C-T",
        "variant": "3:128485929 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 128485929,
          "referenceAllele": "C",
          "start": 128485928
        }
      ],
      "hgvs": [
        "NC_000003.12:g.128485929C>T",
        "CM000665.2:g.128485929C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 128204772,
          "referenceAllele": "C",
          "start": 128204771
        }
      ],
      "hgvs": [
        "NC_000003.11:g.128204772C>T",
        "CM000665.1:g.128204772C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 129687462,
          "referenceAllele": "C",
          "start": 129687461
        }
      ],
      "hgvs": [
        "NC_000003.10:g.129687462C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12259,
          "referenceAllele": "G",
          "start": 12258
        }
      ],
      "hgvs": [
        "NG_029334.1:g.12259G>A",
        "LRG_295:g.12259G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.6:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Met223Ile",
        "hgvsWellDefined": "ENSP00000417074.1:p.Met223Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.669G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.669G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Met223Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Met223Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "G",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696466.1:c.951G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512647.1:p.Met317Ile",
        "hgvsWellDefined": "ENSP00000512647.1:p.Met317Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1017,
          "referenceAllele": "G",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.7:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Met223Ile",
        "hgvsWellDefined": "ENSP00000345681.2:p.Met223Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747961",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.669G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.669G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Met223Ile"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Met223Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.6:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Met223Ile",
        "hgvsWellDefined": "ENSP00000345681.2:p.Met223Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000430265.6:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400259.2:p.Met223Ile",
        "hgvsWellDefined": "ENSP00000400259.2:p.Met223Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.5:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Met223Ile",
        "hgvsWellDefined": "ENSP00000417074.1:p.Met223Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896839",
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.1:c.669G>A",
        "LRG_295t1:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Met223Ile",
        "hgvsWellDefined": "NP_001139133.1:p.Met223Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897827",
      "coordinates": [
        {
          "allele": "A",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145662.1:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139134.1:p.Met223Ile",
        "hgvsWellDefined": "NP_001139134.1:p.Met223Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483797",
      "coordinates": [
        {
          "allele": "A",
          "end": 1003,
          "referenceAllele": "G",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.4:c.669G>A",
        "LRG_295t2:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Met223Ile",
        "hgvsWellDefined": "NP_116027.2:p.Met223Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896839",
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.2:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Met223Ile",
        "hgvsWellDefined": "NP_001139133.1:p.Met223Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.669G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.669G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Met223Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Met223Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483797",
      "coordinates": [
        {
          "allele": "A",
          "end": 1017,
          "referenceAllele": "G",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.5:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Met223Ile",
        "hgvsWellDefined": "NP_116027.2:p.Met223Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.669G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.669G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Met223Ile"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Met223Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}