{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388743842",
  "communityStandardTitle": [
    "NM_001846.4(COL4A2):c.4903G>C (p.Gly1635Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1858641[alleleid]",
        "alleleId": 1858641,
        "preferredName": "NM_001846.4(COL4A2):c.4903G>C (p.Gly1635Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1801354",
        "RCV": [
          "RCV002463415"
        ],
        "variationId": 1801354
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.111164302G>C?assembly=hg19",
        "id": "chr13:g.111164302G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.110511955G>C?assembly=hg38",
        "id": "chr13:g.110511955G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1884096960",
        "rs": 1884096960
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 110511955,
          "referenceAllele": "G",
          "start": 110511954
        }
      ],
      "hgvs": [
        "NC_000013.11:g.110511955G>C",
        "CM000675.2:g.110511955G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 111164302,
          "referenceAllele": "G",
          "start": 111164301
        }
      ],
      "hgvs": [
        "NC_000013.10:g.111164302G>C",
        "CM000675.1:g.111164302G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 109962303,
          "referenceAllele": "G",
          "start": 109962302
        }
      ],
      "hgvs": [
        "NC_000013.9:g.109962303G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 209672,
          "referenceAllele": "G",
          "start": 209671
        }
      ],
      "hgvs": [
        "NG_032137.1:g.209672G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005140"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5192,
          "referenceAllele": "G",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "ENST00000360467.7:c.4903G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353654.5:p.Gly1635Arg",
        "hgvsWellDefined": "ENSP00000353654.5:p.Gly1635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360467.7:c.4903G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001846.4:c.4903G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353654.5:p.Gly1635Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001837.2:p.Gly1635Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "ENST00000648222.1:n.591G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2558,
          "referenceAllele": "G",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "ENST00000650225.1:n.2558G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5209,
          "referenceAllele": "G",
          "start": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "ENST00000360467.5:c.4903G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353654.5:p.Gly1635Arg",
        "hgvsWellDefined": "ENSP00000353654.5:p.Gly1635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "ENST00000463084.1:n.501G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580259138",
      "coordinates": [
        {
          "allele": "C",
          "end": 5192,
          "referenceAllele": "G",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "NM_001846.2:c.4903G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001837.2:p.Gly1635Arg",
        "hgvsWellDefined": "NP_001837.2:p.Gly1635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580259138",
      "coordinates": [
        {
          "allele": "C",
          "end": 5209,
          "referenceAllele": "G",
          "start": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "NM_001846.3:c.4903G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001837.2:p.Gly1635Arg",
        "hgvsWellDefined": "NP_001837.2:p.Gly1635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580259138",
      "coordinates": [
        {
          "allele": "C",
          "end": 5192,
          "referenceAllele": "G",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002203",
      "geneNCBI_id": 1284,
      "geneSymbol": "COL4A2",
      "hgvs": [
        "NM_001846.4:c.4903G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001837.2:p.Gly1635Arg",
        "hgvsWellDefined": "NP_001837.2:p.Gly1635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695383",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360467.7:c.4903G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001846.4:c.4903G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353654.5:p.Gly1635Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001837.2:p.Gly1635Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}