{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354413320",
  "communityStandardTitle": [
    "NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1235009",
        "active": true,
        "id": "COSM1235009"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1173717[alleleid]",
        "alleleId": 1173717,
        "preferredName": "NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1184011",
        "RCV": [
          "RCV001541950"
        ],
        "variationId": 1184011
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128200137T>C?assembly=hg19",
        "id": "chr3:g.128200137T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128481294T>C?assembly=hg38",
        "id": "chr3:g.128481294T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2107668094",
        "rs": 2107668094
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 128481294,
          "referenceAllele": "T",
          "start": 128481293
        }
      ],
      "hgvs": [
        "NC_000003.12:g.128481294T>C",
        "CM000665.2:g.128481294T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 128200137,
          "referenceAllele": "T",
          "start": 128200136
        }
      ],
      "hgvs": [
        "NC_000003.11:g.128200137T>C",
        "CM000665.1:g.128200137T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 129682827,
          "referenceAllele": "T",
          "start": 129682826
        }
      ],
      "hgvs": [
        "NC_000003.10:g.129682827T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16894,
          "referenceAllele": "A",
          "start": 16893
        }
      ],
      "hgvs": [
        "NG_029334.1:g.16894A>G",
        "LRG_295:g.16894A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "A",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.6:c.1168A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Lys390Glu",
        "hgvsWellDefined": "ENSP00000417074.1:p.Lys390Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.1168A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.1168A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Lys390Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Lys390Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1931,
          "referenceAllele": "A",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696466.1:c.1450A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512647.1:p.Lys484Glu",
        "hgvsWellDefined": "ENSP00000512647.1:p.Lys484Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907918"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 143,
          "referenceAllele": "A",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696672.1:c.143A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512796.1:p.Glu48Gly",
        "hgvsWellDefined": "ENSP00000512796.1:p.Glu48Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1516,
          "referenceAllele": "A",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.7:c.1168A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Lys390Glu",
        "hgvsWellDefined": "ENSP00000345681.2:p.Lys390Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747961",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.1168A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.1168A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Lys390Glu"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Lys390Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1500,
          "referenceAllele": "A",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.6:c.1168A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Lys390Glu",
        "hgvsWellDefined": "ENSP00000345681.2:p.Lys390Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261253"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1377,
          "referenceAllele": "A",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000430265.6:c.1126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400259.2:p.Lys376Glu",
        "hgvsWellDefined": "ENSP00000400259.2:p.Lys376Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291058"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "A",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.5:c.1168A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Lys390Glu",
        "hgvsWellDefined": "ENSP00000417074.1:p.Lys390Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 285,
          "referenceAllele": "A",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000489987.1:n.285A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327927"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897167",
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "A",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.1:c.1168A>G",
        "LRG_295t1:c.1168A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Lys390Glu",
        "hgvsWellDefined": "NP_001139133.1:p.Lys390Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825898126",
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145662.1:c.1126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139134.1:p.Lys376Glu",
        "hgvsWellDefined": "NP_001139134.1:p.Lys376Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293775",
      "coordinates": [
        {
          "allele": "G",
          "end": 1502,
          "referenceAllele": "A",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.4:c.1168A>G",
        "LRG_295t2:c.1168A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Lys390Glu",
        "hgvsWellDefined": "NP_116027.2:p.Lys390Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897167",
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "A",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.2:c.1168A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Lys390Glu",
        "hgvsWellDefined": "NP_001139133.1:p.Lys390Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.1168A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.1168A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Lys390Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Lys390Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293775",
      "coordinates": [
        {
          "allele": "G",
          "end": 1516,
          "referenceAllele": "A",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.5:c.1168A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Lys390Glu",
        "hgvsWellDefined": "NP_116027.2:p.Lys390Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.1168A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.1168A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Lys390Glu"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Lys390Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}