{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118897",
  "communityStandardTitle": [
    "NM_002872.5(RAC2):c.169G>A (p.Asp57Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22614[alleleid]",
        "alleleId": 22614,
        "preferredName": "NM_002872.5(RAC2):c.169G>A (p.Asp57Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7575",
        "RCV": [
          "RCV000008011"
        ],
        "variationId": 7575
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37628897C>T?assembly=hg19",
        "id": "chr22:g.37628897C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37232857C>T?assembly=hg38",
        "id": "chr22:g.37232857C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315507",
        "rs": 74315507
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 37232857,
          "referenceAllele": "C",
          "start": 37232856
        }
      ],
      "hgvs": [
        "NC_000022.11:g.37232857C>T",
        "CM000684.2:g.37232857C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 37628897,
          "referenceAllele": "C",
          "start": 37628896
        }
      ],
      "hgvs": [
        "NC_000022.10:g.37628897C>T",
        "CM000684.1:g.37628897C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 35958843,
          "referenceAllele": "C",
          "start": 35958842
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35958843C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16409,
          "referenceAllele": "G",
          "start": 16408
        }
      ],
      "hgvs": [
        "NG_007288.1:g.16409G>A",
        "LRG_97:g.16409G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000536"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000699915.1:n.227G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "referenceAllele": "G",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000249071.11:c.169G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249071.6:p.Asp57Asn",
        "hgvsWellDefined": "ENSP00000249071.6:p.Asp57Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741391",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249071.11:c.169G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002872.5:c.169G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249071.6:p.Asp57Asn"
          },
          "RefSeq": {
            "hgvs": "NP_002863.1:p.Asp57Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000249071.10:c.169G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249071.6:p.Asp57Asn",
        "hgvsWellDefined": "ENSP00000249071.6:p.Asp57Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 432,
          "referenceAllele": "G",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000405484.5:c.148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385590.1:p.Asp50Asn",
        "hgvsWellDefined": "ENSP00000385590.1:p.Asp50Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293,
          "referenceAllele": "G",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000406508.5:c.37G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385270.1:p.Asp13Asn",
        "hgvsWellDefined": "ENSP00000385270.1:p.Asp13Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000441619.5:c.169G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403778.1:p.Asp57Asn",
        "hgvsWellDefined": "ENSP00000403778.1:p.Asp57Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "referenceAllele": "G",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "ENST00000469532.1:n.299G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107303",
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "NM_002872.4:c.169G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002863.1:p.Asp57Asn",
        "hgvsWellDefined": "NP_002863.1:p.Asp57Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "XM_006724286.2:c.169G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724349.1:p.Asp57Asn",
        "hgvsWellDefined": "XP_006724349.1:p.Asp57Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "XM_006724286.3:c.169G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724349.1:p.Asp57Asn",
        "hgvsWellDefined": "XP_006724349.1:p.Asp57Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107303",
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "referenceAllele": "G",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009802",
      "geneNCBI_id": 5880,
      "geneSymbol": "RAC2",
      "hgvs": [
        "NM_002872.5:c.169G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002863.1:p.Asp57Asn",
        "hgvsWellDefined": "NP_002863.1:p.Asp57Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665763",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249071.11:c.169G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002872.5:c.169G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249071.6:p.Asp57Asn"
          },
          "RefSeq": {
            "hgvs": "NP_002863.1:p.Asp57Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}