{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10584016",
  "communityStandardTitle": [
    "NM_006432.5(NPC2):c.82+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244008[alleleid]",
        "alleleId": 244008,
        "preferredName": "NM_006432.5(NPC2):c.82+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242903",
        "RCV": [
          "RCV000234869"
        ],
        "variationId": 242903
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74959894A>G?assembly=hg19",
        "id": "chr14:g.74959894A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74493191A>G?assembly=hg38",
        "id": "chr14:g.74493191A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879253740",
        "rs": 879253740
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74493191-A-G?dataset=gnomad_r4",
        "id": "14-74493191-A-G",
        "variant": "14:74493191 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 74493191,
          "referenceAllele": "A",
          "start": 74493190
        }
      ],
      "hgvs": [
        "NC_000014.9:g.74493191A>G",
        "CM000676.2:g.74493191A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 74959894,
          "referenceAllele": "A",
          "start": 74959893
        }
      ],
      "hgvs": [
        "NC_000014.8:g.74959894A>G",
        "CM000676.1:g.74959894A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 74029647,
          "referenceAllele": "A",
          "start": 74029646
        }
      ],
      "hgvs": [
        "NC_000014.7:g.74029647A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5191,
          "referenceAllele": "T",
          "start": 5190
        }
      ],
      "hgvs": [
        "NG_007117.1:g.5191T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4472,
          "referenceAllele": "A",
          "start": 4471
        }
      ],
      "hgvs": [
        "NG_033074.1:g.4472A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000555619.6:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451112.2:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760130",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555619.6:c.82+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006432.5:c.82+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451112.2:n.82+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_006423.1:n.82+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 99,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000238633.6:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000238633.2:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 115,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 115,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000434013.6:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412103.2:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000541064.5:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442488.1:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000553490.5:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451180.1:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 50,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000554482.1:c.50+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451314.1:n.50+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 184,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000555592.1:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450887.1:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 320,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 320,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000555619.5:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451112.1:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 840,
          "referenceAllele": "T",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000556009.5:c.147+840T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 155,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 155,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000557510.5:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451206.1:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 189,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_006432.3:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006423.1:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 320,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 320,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_001363688.1:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350617.1:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 320,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 320,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_006432.4:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006423.1:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_001375440.1:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362369.1:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_006432.5:c.82+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006423.1:n.82+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555619.6:c.82+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006432.5:c.82+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451112.2:n.82+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_006423.1:n.82+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}