{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2599816",
  "communityStandardTitle": [
    "NM_032638.5(GATA2):c.1232C>T (p.Ala411Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=452262[alleleid]",
        "alleleId": 452262,
        "preferredName": "NM_032638.5(GATA2):c.1232C>T (p.Ala411Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/472438",
        "RCV": [
          "RCV000546615",
          "RCV000765710",
          "RCV002255458",
          "RCV003223653",
          "RCV003459250"
        ],
        "variationId": 472438
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-128200073-G-A",
        "id": "3-128200073-G-A",
        "variant": "3:128200073 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128200073G>A?assembly=hg19",
        "id": "chr3:g.128200073G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128481230G>A?assembly=hg38",
        "id": "chr3:g.128481230G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374457534",
        "rs": 374457534
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128200073-G-A?dataset=gnomad_r2_1",
        "id": "3-128200073-G-A",
        "variant": "3:128200073 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128481230-G-A?dataset=gnomad_r3",
        "id": "3-128481230-G-A",
        "variant": "3:128481230 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-128481230-G-A?dataset=gnomad_r4",
        "id": "3-128481230-G-A",
        "variant": "3:128481230 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 128481230,
          "referenceAllele": "G",
          "start": 128481229
        }
      ],
      "hgvs": [
        "NC_000003.12:g.128481230G>A",
        "CM000665.2:g.128481230G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 128200073,
          "referenceAllele": "G",
          "start": 128200072
        }
      ],
      "hgvs": [
        "NC_000003.11:g.128200073G>A",
        "CM000665.1:g.128200073G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 129682763,
          "referenceAllele": "G",
          "start": 129682762
        }
      ],
      "hgvs": [
        "NC_000003.10:g.129682763G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16958,
          "referenceAllele": "C",
          "start": 16957
        }
      ],
      "hgvs": [
        "NG_029334.1:g.16958C>T",
        "LRG_295:g.16958C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1667,
          "referenceAllele": "C",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.6:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Ala411Val",
        "hgvsWellDefined": "ENSP00000417074.1:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.1232C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.1232C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Ala411Val"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Ala411Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696466.1:c.1514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512647.1:p.Ala505Val",
        "hgvsWellDefined": "ENSP00000512647.1:p.Ala505Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696672.1:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512796.1:p.Gly69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1580,
          "referenceAllele": "C",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.7:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Ala411Val",
        "hgvsWellDefined": "ENSP00000345681.2:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747961",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.1232C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.1232C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Ala411Val"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Ala411Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.6:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Ala411Val",
        "hgvsWellDefined": "ENSP00000345681.2:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1441,
          "referenceAllele": "C",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000430265.6:c.1190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400259.2:p.Ala397Val",
        "hgvsWellDefined": "ENSP00000400259.2:p.Ala397Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1667,
          "referenceAllele": "C",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.5:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Ala411Val",
        "hgvsWellDefined": "ENSP00000417074.1:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000489987.1:n.349C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327927"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897202",
      "coordinates": [
        {
          "allele": "T",
          "end": 1667,
          "referenceAllele": "C",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.1:c.1232C>T",
        "LRG_295t1:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Ala411Val",
        "hgvsWellDefined": "NP_001139133.1:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825898165",
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "C",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145662.1:c.1190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139134.1:p.Ala397Val",
        "hgvsWellDefined": "NP_001139134.1:p.Ala397Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676365",
      "coordinates": [
        {
          "allele": "T",
          "end": 1566,
          "referenceAllele": "C",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.4:c.1232C>T",
        "LRG_295t2:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Ala411Val",
        "hgvsWellDefined": "NP_116027.2:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897202",
      "coordinates": [
        {
          "allele": "T",
          "end": 1667,
          "referenceAllele": "C",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.2:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Ala411Val",
        "hgvsWellDefined": "NP_001139133.1:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.1232C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.1232C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Ala411Val"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Ala411Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676365",
      "coordinates": [
        {
          "allele": "T",
          "end": 1580,
          "referenceAllele": "C",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.5:c.1232C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Ala411Val",
        "hgvsWellDefined": "NP_116027.2:p.Ala411Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.1232C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.1232C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Ala411Val"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Ala411Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}