{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2118892915",
  "communityStandardTitle": [
    "NM_001846.4(COL4A2):c.3490G= (p.Gly1164=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519090",
        "rs": 1057519090
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 110492105,
          "referenceAllele": "G",
          "start": 110492104
        }
      ],
      "hgvs": [
        "NC_000013.11:g.110492105G=",
        "CM000675.2:g.110492105G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 111144452,
          "referenceAllele": "G",
          "start": 111144451
        }
      ],
      "hgvs": [
        "NC_000013.10:g.111144452G=",
        "CM000675.1:g.111144452G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 109942453,
          "referenceAllele": "G",
          "start": 109942452
        }
      ],
      "hgvs": [
        "NC_000013.9:g.109942453G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189822,
          "referenceAllele": "G",
          "start": 189821
        }
      ],
      "hgvs": [
        "NG_032137.1:g.189822G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005140"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3779,
          "referenceAllele": "G",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "ENST00000360467.7:c.3490G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353654.5:p.Gly1164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360467.7:c.3490G="
          },
          "RefSeq": {
            "hgvs": "NM_001846.4:c.3490G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353654.5:p.Gly1164="
          },
          "RefSeq": {
            "hgvs": "NP_001837.2:p.Gly1164="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "ENST00000650225.1:n.1145G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3796,
          "referenceAllele": "G",
          "start": 3795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "ENST00000360467.5:c.3490G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353654.5:p.Gly1164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265141"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080808339",
      "coordinates": [
        {
          "allele": "G",
          "end": 3779,
          "referenceAllele": "G",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "NM_001846.2:c.3490G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001837.2:p.Gly1164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080808339",
      "coordinates": [
        {
          "allele": "G",
          "end": 3796,
          "referenceAllele": "G",
          "start": 3795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "NM_001846.3:c.3490G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001837.2:p.Gly1164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080808339",
      "coordinates": [
        {
          "allele": "G",
          "end": 3779,
          "referenceAllele": "G",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "NM_001846.4:c.3490G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001837.2:p.Gly1164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695383",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360467.7:c.3490G="
          },
          "RefSeq": {
            "hgvs": "NM_001846.4:c.3490G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353654.5:p.Gly1164="
          },
          "RefSeq": {
            "hgvs": "NP_001837.2:p.Gly1164="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}