{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10576356",
  "communityStandardTitle": [
    "NM_001232.4(CASQ2):c.940-1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=228259[alleleid]",
        "alleleId": 228259,
        "preferredName": "NM_001232.4(CASQ2):c.940-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228247",
        "RCV": [
          "RCV000222785",
          "RCV002503848",
          "RCV002517522",
          "RCV003343709"
        ],
        "variationId": 228247
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.116245617C>A?assembly=hg19",
        "id": "chr1:g.116245617C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.115702996C>A?assembly=hg38",
        "id": "chr1:g.115702996C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876657635",
        "rs": 876657635
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-116245617-C-A?dataset=gnomad_r2_1",
        "id": "1-116245617-C-A",
        "variant": "1:116245617 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115702996-C-A?dataset=gnomad_r4",
        "id": "1-115702996-C-A",
        "variant": "1:115702996 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 115702996,
          "referenceAllele": "C",
          "start": 115702995
        }
      ],
      "hgvs": [
        "NC_000001.11:g.115702996C>A",
        "CM000663.2:g.115702996C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 116245617,
          "referenceAllele": "C",
          "start": 116245616
        }
      ],
      "hgvs": [
        "NC_000001.10:g.116245617C>A",
        "CM000663.1:g.116245617C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 116047140,
          "referenceAllele": "C",
          "start": 116047139
        }
      ],
      "hgvs": [
        "NC_000001.9:g.116047140C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70810,
          "referenceAllele": "G",
          "start": 70809
        }
      ],
      "hgvs": [
        "NG_008802.1:g.70810G>T",
        "LRG_404:g.70810G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001221"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1030,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000488931.2:c.*312-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518226.1:n.*312-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1112,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1112,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000261448.6:c.940-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261448.5:n.940-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261448.6:c.940-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001232.4:c.940-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261448.5:n.940-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001223.2:n.940-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1179,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000261448.5:c.940-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261448.5:n.940-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1203,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1203,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "NM_001232.3:c.940-1G>T",
        "LRG_404t1:c.940-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001223.2:n.940-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1112,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1112,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "NM_001232.4:c.940-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001223.2:n.940-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714296",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261448.6:c.940-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001232.4:c.940-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261448.5:n.940-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001223.2:n.940-1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}