{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2323631460",
  "communityStandardTitle": [
    "NM_001105578.2(SYCE2):c.131+4786T>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/741702",
        "rs": 741702
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 12913436,
          "referenceAllele": "A",
          "start": 12913435
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12913436A>G",
        "CM000681.2:g.12913436A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13024250,
          "referenceAllele": "A",
          "start": 13024249
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13024250A>G",
        "CM000681.1:g.13024250A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 12885250,
          "referenceAllele": "A",
          "start": 12885249
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12885250A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10837,
          "referenceAllele": "T",
          "start": 10836
        }
      ],
      "hgvs": [
        "NG_033049.1:g.10837T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005381"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 4786,
          "referenceAllele": "T",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "ENST00000293695.8:c.131+4786T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293695.6:n.131+4786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293695.8:c.131+4786T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001105578.2:c.131+4786T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293695.6:n.131+4786T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001099048.1:n.131+4786T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 150,
          "endIntronDirection": "+",
          "endIntronOffset": 4786,
          "referenceAllele": "T",
          "start": 150,
          "startIntronDirection": "+",
          "startIntronOffset": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "ENST00000293695.7:c.131+4786T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293695.6:n.131+4786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 558,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591050.1:c.211-559A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 4786,
          "referenceAllele": "T",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "NM_001105578.1:c.131+4786T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001099048.1:n.131+4786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "endIntronDirection": "+",
          "endIntronOffset": 4786,
          "referenceAllele": "T",
          "start": 216,
          "startIntronDirection": "+",
          "startIntronOffset": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_005259848.3:c.131+4786T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259905.1:n.131+4786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "endIntronDirection": "+",
          "endIntronOffset": 4786,
          "referenceAllele": "T",
          "start": 216,
          "startIntronDirection": "+",
          "startIntronOffset": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527882.1:c.131+4786T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526184.1:n.131+4786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 4786,
          "referenceAllele": "T",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527883.1:c.131+4786T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526185.1:n.131+4786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 558,
          "referenceAllele": "A",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.1:c.1244-559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:n.1244-559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1405,
          "endIntronDirection": "-",
          "endIntronOffset": 558,
          "referenceAllele": "A",
          "start": 1405,
          "startIntronDirection": "-",
          "startIntronOffset": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.1:c.1329-559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:n.1329-559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218,
          "endIntronDirection": "+",
          "endIntronOffset": 4786,
          "referenceAllele": "T",
          "start": 218,
          "startIntronDirection": "+",
          "startIntronOffset": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_005259848.4:c.131+4786T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259905.1:n.131+4786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 548,
          "endIntronDirection": "+",
          "endIntronOffset": 4786,
          "referenceAllele": "T",
          "start": 548,
          "startIntronDirection": "+",
          "startIntronOffset": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527882.2:c.131+4786T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526184.1:n.131+4786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 548,
          "endIntronDirection": "+",
          "endIntronOffset": 4786,
          "referenceAllele": "T",
          "start": 548,
          "startIntronDirection": "+",
          "startIntronOffset": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527883.2:c.131+4786T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526185.1:n.131+4786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 558,
          "referenceAllele": "A",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.2:c.1244-559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:n.1244-559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1405,
          "endIntronDirection": "-",
          "endIntronOffset": 558,
          "referenceAllele": "A",
          "start": 1405,
          "startIntronDirection": "-",
          "startIntronOffset": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.2:c.1329-559A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:n.1329-559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 4786,
          "referenceAllele": "T",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 4785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "NM_001105578.2:c.131+4786T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001099048.1:n.131+4786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293695.8:c.131+4786T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001105578.2:c.131+4786T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293695.6:n.131+4786T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001099048.1:n.131+4786T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}