{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2167717",
  "communityStandardTitle": [
    "NM_001195129.2(PRSS56):c.501G>A (p.Glu167=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2165465[alleleid]",
        "alleleId": 2165465,
        "preferredName": "NM_001195129.2(PRSS56):c.501G>A (p.Glu167=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2102420",
        "RCV": [
          "RCV003028615"
        ],
        "variationId": 2102420
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-233387279-G-A",
        "id": "2-233387279-G-A",
        "variant": "2:233387279 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233387279G>A?assembly=hg19",
        "id": "chr2:g.233387279G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.232522569G>A?assembly=hg38",
        "id": "chr2:g.232522569G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/536084875",
        "rs": 536084875
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-233387279-G-A?dataset=gnomad_r2_1",
        "id": "2-233387279-G-A",
        "variant": "2:233387279 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232522569-G-A?dataset=gnomad_r3",
        "id": "2-232522569-G-A",
        "variant": "2:232522569 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232522569-G-A?dataset=gnomad_r4",
        "id": "2-232522569-G-A",
        "variant": "2:232522569 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 232522569,
          "referenceAllele": "G",
          "start": 232522568
        }
      ],
      "hgvs": [
        "NC_000002.12:g.232522569G>A",
        "CM000664.2:g.232522569G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 233387279,
          "referenceAllele": "G",
          "start": 233387278
        }
      ],
      "hgvs": [
        "NC_000002.11:g.233387279G>A",
        "CM000664.1:g.233387279G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 233095523,
          "referenceAllele": "G",
          "start": 233095522
        }
      ],
      "hgvs": [
        "NC_000002.10:g.233095523G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1358,
          "referenceAllele": "G",
          "start": 1357
        }
      ],
      "hgvs": [
        "NG_008028.1:g.1358G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7107,
          "referenceAllele": "G",
          "start": 7106
        }
      ],
      "hgvs": [
        "NG_031969.1:g.7107G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039433",
      "geneNCBI_id": 646960,
      "geneSymbol": "PRSS56",
      "hgvs": [
        "ENST00000617714.2:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479745.1:p.Glu167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617714.2:c.501G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001195129.2:c.501G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479745.1:p.Glu167="
          },
          "RefSeq": {
            "hgvs": "NP_001182058.1:p.Glu167="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039433",
      "geneNCBI_id": 646960,
      "geneSymbol": "PRSS56",
      "hgvs": [
        "ENST00000449534.6:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473410.1:p.Glu167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69,
          "referenceAllele": "G",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039433",
      "geneNCBI_id": 646960,
      "geneSymbol": "PRSS56",
      "hgvs": [
        "ENST00000602410.1:n.69G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039433",
      "geneNCBI_id": 646960,
      "geneSymbol": "PRSS56",
      "hgvs": [
        "ENST00000617714.1:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479745.1:p.Glu167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403599"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826196991",
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039433",
      "geneNCBI_id": 646960,
      "geneSymbol": "PRSS56",
      "hgvs": [
        "NM_001195129.1:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182058.1:p.Glu167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826196991",
      "coordinates": [
        {
          "allele": "A",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039433",
      "geneNCBI_id": 646960,
      "geneSymbol": "PRSS56",
      "hgvs": [
        "NM_001195129.2:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182058.1:p.Glu167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617714.2:c.501G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001195129.2:c.501G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479745.1:p.Glu167="
          },
          "RefSeq": {
            "hgvs": "NP_001182058.1:p.Glu167="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828364424",
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039433",
      "geneNCBI_id": 646960,
      "geneSymbol": "PRSS56",
      "hgvs": [
        "NM_001369848.1:c.501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356777.1:p.Glu167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692011"
    }
  ],
  "type": "nucleotide"
}