{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA259603",
  "communityStandardTitle": [
    "NM_144773.4(PROKR2):c.969G>A (p.Met323Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18492[alleleid]",
        "alleleId": 18492,
        "preferredName": "NM_144773.4(PROKR2):c.969G>A (p.Met323Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3453",
        "RCV": [
          "RCV000022410"
        ],
        "variationId": 3453
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.5282872C>T?assembly=hg19",
        "id": "chr20:g.5282872C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.5302226C>T?assembly=hg38",
        "id": "chr20:g.5302226C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315419",
        "rs": 74315419
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 5302226,
          "referenceAllele": "C",
          "start": 5302225
        }
      ],
      "hgvs": [
        "NC_000020.11:g.5302226C>T",
        "CM000682.2:g.5302226C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 5282872,
          "referenceAllele": "C",
          "start": 5282871
        }
      ],
      "hgvs": [
        "NC_000020.10:g.5282872C>T",
        "CM000682.1:g.5282872C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 5230872,
          "referenceAllele": "C",
          "start": 5230871
        }
      ],
      "hgvs": [
        "NC_000020.9:g.5230872C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17144,
          "referenceAllele": "G",
          "start": 17143
        }
      ],
      "hgvs": [
        "NG_008132.1:g.17144G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17144,
          "referenceAllele": "G",
          "start": 17143
        }
      ],
      "hgvs": [
        "NG_008132.2:g.17144G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673490"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015836",
      "geneNCBI_id": 128674,
      "geneSymbol": "PROKR2",
      "hgvs": [
        "ENST00000217270.4:c.969G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217270.3:p.Met323Ile",
        "hgvsWellDefined": "ENSP00000217270.3:p.Met323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1122,
          "referenceAllele": "G",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015836",
      "geneNCBI_id": 128674,
      "geneSymbol": "PROKR2",
      "hgvs": [
        "ENST00000678059.1:c.861G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503366.1:p.Met287Ile",
        "hgvsWellDefined": "ENSP00000503366.1:p.Met287Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015836",
      "geneNCBI_id": 128674,
      "geneSymbol": "PROKR2",
      "hgvs": [
        "ENST00000678254.1:c.969G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504128.1:p.Met323Ile",
        "hgvsWellDefined": "ENSP00000504128.1:p.Met323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777902",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000678254.1:c.969G>A"
          },
          "RefSeq": {
            "hgvs": "NM_144773.4:c.969G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504128.1:p.Met323Ile"
          },
          "RefSeq": {
            "hgvs": "NP_658986.1:p.Met323Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015836",
      "geneNCBI_id": 128674,
      "geneSymbol": "PROKR2",
      "hgvs": [
        "ENST00000217270.3:c.969G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217270.3:p.Met323Ile",
        "hgvsWellDefined": "ENSP00000217270.3:p.Met323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099905",
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015836",
      "geneNCBI_id": 128674,
      "geneSymbol": "PROKR2",
      "hgvs": [
        "NM_144773.2:c.969G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_658986.1:p.Met323Ile",
        "hgvsWellDefined": "NP_658986.1:p.Met323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015836",
      "geneNCBI_id": 128674,
      "geneSymbol": "PROKR2",
      "hgvs": [
        "XM_005260663.2:c.969G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260720.1:p.Met323Ile",
        "hgvsWellDefined": "XP_005260720.1:p.Met323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1937,
          "referenceAllele": "G",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015836",
      "geneNCBI_id": 128674,
      "geneSymbol": "PROKR2",
      "hgvs": [
        "XM_011529159.1:c.861G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527461.1:p.Met287Ile",
        "hgvsWellDefined": "XP_011527461.1:p.Met287Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099905",
      "coordinates": [
        {
          "allele": "A",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015836",
      "geneNCBI_id": 128674,
      "geneSymbol": "PROKR2",
      "hgvs": [
        "NM_144773.3:c.969G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_658986.1:p.Met323Ile",
        "hgvsWellDefined": "NP_658986.1:p.Met323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015836",
      "geneNCBI_id": 128674,
      "geneSymbol": "PROKR2",
      "hgvs": [
        "XM_017027646.1:c.969G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883135.1:p.Met323Ile",
        "hgvsWellDefined": "XP_016883135.1:p.Met323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099905",
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015836",
      "geneNCBI_id": 128674,
      "geneSymbol": "PROKR2",
      "hgvs": [
        "NM_144773.4:c.969G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_658986.1:p.Met323Ile",
        "hgvsWellDefined": "NP_658986.1:p.Met323Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729256",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000678254.1:c.969G>A"
          },
          "RefSeq": {
            "hgvs": "NM_144773.4:c.969G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504128.1:p.Met323Ile"
          },
          "RefSeq": {
            "hgvs": "NP_658986.1:p.Met323Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}