{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1023822",
  "communityStandardTitle": [
    "NM_001232.4(CASQ2):c.673A>G (p.Ile225Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=862087[alleleid]",
        "alleleId": 862087,
        "preferredName": "NM_001232.4(CASQ2):c.673A>G (p.Ile225Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/875120",
        "RCV": [
          "RCV001098684",
          "RCV002365798",
          "RCV002556008"
        ],
        "variationId": 875120
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-116269677-T-C",
        "id": "1-116269677-T-C",
        "variant": "1:116269677 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.116269677T>C?assembly=hg19",
        "id": "chr1:g.116269677T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.115727056T>C?assembly=hg38",
        "id": "chr1:g.115727056T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774546117",
        "rs": 774546117
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-116269677-T-C?dataset=gnomad_r2_1",
        "id": "1-116269677-T-C",
        "variant": "1:116269677 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115727056-T-C?dataset=gnomad_r3",
        "id": "1-115727056-T-C",
        "variant": "1:115727056 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115727056-T-C?dataset=gnomad_r4",
        "id": "1-115727056-T-C",
        "variant": "1:115727056 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 115727056,
          "referenceAllele": "T",
          "start": 115727055
        }
      ],
      "hgvs": [
        "NC_000001.11:g.115727056T>C",
        "CM000663.2:g.115727056T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 116269677,
          "referenceAllele": "T",
          "start": 116269676
        }
      ],
      "hgvs": [
        "NC_000001.10:g.116269677T>C",
        "CM000663.1:g.116269677T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 116071200,
          "referenceAllele": "T",
          "start": 116071199
        }
      ],
      "hgvs": [
        "NC_000001.9:g.116071200T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46750,
          "referenceAllele": "A",
          "start": 46749
        }
      ],
      "hgvs": [
        "NG_008802.1:g.46750A>G",
        "LRG_404:g.46750A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001221"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "referenceAllele": "A",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000488931.2:c.*45A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518226.1:n.*45A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000261448.6:c.673A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261448.5:p.Ile225Val",
        "hgvsWellDefined": "ENSP00000261448.5:p.Ile225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261448.6:c.673A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001232.4:c.673A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261448.5:p.Ile225Val"
          },
          "RefSeq": {
            "hgvs": "NP_001223.2:p.Ile225Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000261448.5:c.673A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261448.5:p.Ile225Val",
        "hgvsWellDefined": "ENSP00000261448.5:p.Ile225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "A",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000488931.1:n.189A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139692484",
      "coordinates": [
        {
          "allele": "G",
          "end": 937,
          "referenceAllele": "A",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "NM_001232.3:c.673A>G",
        "LRG_404t1:c.673A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001223.2:p.Ile225Val",
        "hgvsWellDefined": "NP_001223.2:p.Ile225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139692484",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "NM_001232.4:c.673A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001223.2:p.Ile225Val",
        "hgvsWellDefined": "NP_001223.2:p.Ile225Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714296",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261448.6:c.673A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001232.4:c.673A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261448.5:p.Ile225Val"
          },
          "RefSeq": {
            "hgvs": "NP_001223.2:p.Ile225Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}