{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2398638923",
  "communityStandardTitle": [
    "NM_000496.3(CRYBB2):c.463C= (p.Gln155=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315489",
        "rs": 74315489
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 25231617,
          "referenceAllele": "C",
          "start": 25231616
        }
      ],
      "hgvs": [
        "NC_000022.11:g.25231617C=",
        "CM000684.2:g.25231617C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 25627584,
          "referenceAllele": "C",
          "start": 25627583
        }
      ],
      "hgvs": [
        "NC_000022.10:g.25627584C=",
        "CM000684.1:g.25627584C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 23957584,
          "referenceAllele": "C",
          "start": 23957583
        }
      ],
      "hgvs": [
        "NC_000022.9:g.23957584C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16973,
          "referenceAllele": "C",
          "start": 16972
        }
      ],
      "hgvs": [
        "NG_009827.1:g.16973C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001664"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002398",
      "geneNCBI_id": 1415,
      "geneSymbol": "CRYBB2",
      "hgvs": [
        "ENST00000398215.3:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381273.2:p.Gln155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753737",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398215.3:c.463C="
          },
          "RefSeq": {
            "hgvs": "NM_000496.3:c.463C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381273.2:p.Gln155="
          },
          "RefSeq": {
            "hgvs": "NP_000487.1:p.Gln155="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002398",
      "geneNCBI_id": 1415,
      "geneSymbol": "CRYBB2",
      "hgvs": [
        "ENST00000651629.1:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498905.1:p.Gln155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "referenceAllele": "C",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002398",
      "geneNCBI_id": 1415,
      "geneSymbol": "CRYBB2",
      "hgvs": [
        "ENST00000398215.2:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381273.2:p.Gln155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088578908",
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002398",
      "geneNCBI_id": 1415,
      "geneSymbol": "CRYBB2",
      "hgvs": [
        "NM_000496.2:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000487.1:p.Gln155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002398",
      "geneNCBI_id": 1415,
      "geneSymbol": "CRYBB2",
      "hgvs": [
        "XM_006724141.2:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724204.1:p.Gln155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075373"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2025,
          "referenceAllele": "C",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002398",
      "geneNCBI_id": 1415,
      "geneSymbol": "CRYBB2",
      "hgvs": [
        "XM_011529900.1:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528202.1:p.Gln155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002398",
      "geneNCBI_id": 1415,
      "geneSymbol": "CRYBB2",
      "hgvs": [
        "XM_011529901.1:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528203.1:p.Gln155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1670,
          "referenceAllele": "C",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002398",
      "geneNCBI_id": 1415,
      "geneSymbol": "CRYBB2",
      "hgvs": [
        "XM_006724141.3:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724204.1:p.Gln155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2035,
          "referenceAllele": "C",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002398",
      "geneNCBI_id": 1415,
      "geneSymbol": "CRYBB2",
      "hgvs": [
        "XM_011529900.2:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528202.1:p.Gln155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088578908",
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002398",
      "geneNCBI_id": 1415,
      "geneSymbol": "CRYBB2",
      "hgvs": [
        "NM_000496.3:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000487.1:p.Gln155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398215.3:c.463C="
          },
          "RefSeq": {
            "hgvs": "NM_000496.3:c.463C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381273.2:p.Gln155="
          },
          "RefSeq": {
            "hgvs": "NP_000487.1:p.Gln155="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}