{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10217470",
  "communityStandardTitle": [
    "NM_002872.5(RAC2):c.507C>T (p.Phe169=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1086012[alleleid]",
        "alleleId": 1086012,
        "preferredName": "NM_002872.5(RAC2):c.507C>T (p.Phe169=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1088056",
        "RCV": [
          "RCV001406381"
        ],
        "variationId": 1088056
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-37622785-G-A",
        "id": "22-37622785-G-A",
        "variant": "22:37622785 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37622785G>A?assembly=hg19",
        "id": "chr22:g.37622785G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37226745G>A?assembly=hg38",
        "id": "chr22:g.37226745G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150782757",
        "rs": 150782757
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-37622785-G-A?dataset=gnomad_r2_1",
        "id": "22-37622785-G-A",
        "variant": "22:37622785 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-37226745-G-A?dataset=gnomad_r3",
        "id": "22-37226745-G-A",
        "variant": "22:37226745 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-37226745-G-A?dataset=gnomad_r4",
        "id": "22-37226745-G-A",
        "variant": "22:37226745 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 37226745,
          "referenceAllele": "G",
          "start": 37226744
        }
      ],
      "hgvs": [
        "NC_000022.11:g.37226745G>A",
        "CM000684.2:g.37226745G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 37622785,
          "referenceAllele": "G",
          "start": 37622784
        }
      ],
      "hgvs": [
        "NC_000022.10:g.37622785G>A",
        "CM000684.1:g.37622785G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 35952731,
          "referenceAllele": "G",
          "start": 35952730
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35952731G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22521,
          "referenceAllele": "C",
          "start": 22520
        }
      ],
      "hgvs": [
        "NG_007288.1:g.22521C>T",
        "LRG_97:g.22521C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000536"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000699915.1:n.565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000249071.11:c.507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249071.6:p.Phe169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741391",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249071.11:c.507C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002872.5:c.507C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249071.6:p.Phe169="
          },
          "RefSeq": {
            "hgvs": "NP_002863.1:p.Phe169="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000249071.10:c.507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249071.6:p.Phe169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000405484.5:c.486C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385590.1:p.Phe162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000406508.5:c.375C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385270.1:p.Phe125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000481215.1:n.332C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321190"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829391125",
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "NM_002872.4:c.507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002863.1:p.Phe169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829391125",
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "NM_002872.5:c.507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002863.1:p.Phe169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665763",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249071.11:c.507C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002872.5:c.507C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249071.6:p.Phe169="
          },
          "RefSeq": {
            "hgvs": "NP_002863.1:p.Phe169="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}