{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA362426528",
  "communityStandardTitle": [
    "NM_014244.5(ADAMTS2):c.673C>G (p.Gln225Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.178699927G>C?assembly=hg19",
        "id": "chr5:g.178699927G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.179272926G>C?assembly=hg38",
        "id": "chr5:g.179272926G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853146",
        "rs": 137853146
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-179272926-G-C?dataset=gnomad_r4",
        "id": "5-179272926-G-C",
        "variant": "5:179272926 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 179272926,
          "referenceAllele": "G",
          "start": 179272925
        }
      ],
      "hgvs": [
        "NC_000005.10:g.179272926G>C",
        "CM000667.2:g.179272926G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 178699927,
          "referenceAllele": "G",
          "start": 178699926
        }
      ],
      "hgvs": [
        "NC_000005.9:g.178699927G>C",
        "CM000667.1:g.178699927G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 178632533,
          "referenceAllele": "G",
          "start": 178632532
        }
      ],
      "hgvs": [
        "NC_000005.8:g.178632533G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77403,
          "referenceAllele": "C",
          "start": 77402
        }
      ],
      "hgvs": [
        "NG_023212.2:g.77403C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77403,
          "referenceAllele": "C",
          "start": 77402
        }
      ],
      "hgvs": [
        "NG_023212.3:g.77403C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673727"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "ENST00000698889.1:c.673C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514008.1:p.Gln225Glu",
        "hgvsWellDefined": "ENSP00000514008.1:p.Gln225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "ENST00000251582.12:c.673C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251582.7:p.Gln225Glu",
        "hgvsWellDefined": "ENSP00000251582.7:p.Gln225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251582.12:c.673C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014244.5:c.673C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251582.7:p.Gln225Glu"
          },
          "RefSeq": {
            "hgvs": "NP_055059.2:p.Gln225Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "ENST00000518335.3:c.673C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489888.2:p.Gln225Glu",
        "hgvsWellDefined": "ENSP00000489888.2:p.Gln225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "ENST00000251582.11:c.673C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251582.7:p.Gln225Glu",
        "hgvsWellDefined": "ENSP00000251582.7:p.Gln225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "ENST00000274609.5:c.673C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274609.5:p.Gln225Glu",
        "hgvsWellDefined": "ENSP00000274609.5:p.Gln225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948656",
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "NM_014244.4:c.673C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055059.2:p.Gln225Glu",
        "hgvsWellDefined": "NP_055059.2:p.Gln225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "NM_021599.2:c.673C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_067610.1:p.Gln225Glu",
        "hgvsWellDefined": "NP_067610.1:p.Gln225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "NM_021599.3:c.673C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_067610.1:p.Gln225Glu",
        "hgvsWellDefined": "NP_067610.1:p.Gln225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948656",
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "NM_014244.5:c.673C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055059.2:p.Gln225Glu",
        "hgvsWellDefined": "NP_055059.2:p.Gln225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251582.12:c.673C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014244.5:c.673C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251582.7:p.Gln225Glu"
          },
          "RefSeq": {
            "hgvs": "NP_055059.2:p.Gln225Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "NM_021599.4:c.673C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_067610.1:p.Gln225Glu",
        "hgvsWellDefined": "NP_067610.1:p.Gln225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698420"
    }
  ],
  "type": "nucleotide"
}