{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390532368",
  "communityStandardTitle": [
    "NM_006432.5(NPC2):c.304C>T (p.Gln102Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972200[alleleid]",
        "alleleId": 972200,
        "preferredName": "NM_006432.5(NPC2):c.304C>T (p.Gln102Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983846",
        "RCV": [
          "RCV001263849"
        ],
        "variationId": 983846
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74951177G>A?assembly=hg19",
        "id": "chr14:g.74951177G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74484474G>A?assembly=hg38",
        "id": "chr14:g.74484474G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2086687862",
        "rs": 2086687862
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74484474,
          "referenceAllele": "G",
          "start": 74484473
        }
      ],
      "hgvs": [
        "NC_000014.9:g.74484474G>A",
        "CM000676.2:g.74484474G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74951177,
          "referenceAllele": "G",
          "start": 74951176
        }
      ],
      "hgvs": [
        "NC_000014.8:g.74951177G>A",
        "CM000676.1:g.74951177G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74020930,
          "referenceAllele": "G",
          "start": 74020929
        }
      ],
      "hgvs": [
        "NC_000014.7:g.74020930G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13908,
          "referenceAllele": "C",
          "start": 13907
        }
      ],
      "hgvs": [
        "NG_007117.1:g.13908C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000491"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000555619.6:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451112.2:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000451112.2:p.Gln102_Leu151delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760130",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555619.6:c.304C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006432.5:c.304C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451112.2:p.Gln102Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006423.1:p.Gln102Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000238633.6:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000238633.2:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000238633.2:p.Gln102_Leu148delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "referenceAllele": "C",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000434013.6:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412103.2:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000412103.2:p.Gln102_Phe201delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleMetPheProCysLeuPheSerAlaHisCysProMetLeuAlaThrGluHisArgCysLeuGlnLeuGlnMetGluThrLysSerLeuArgPheTrpSerArgArgGlyMetSerValTrpLeuProSerProAlaGlyAlaTrpArgArgThrAlaProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311,
          "referenceAllele": "C",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000541064.5:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442488.1:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000442488.1:p.Gln102_Leu125delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000553490.5:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451180.1:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000451180.1:p.Gln102Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 1855,
          "referenceAllele": "C",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000554482.1:c.158+1855C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451314.1:n.158+1855C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000555592.1:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450887.1:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000450887.1:p.Gln102Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000555619.5:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451112.1:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000451112.1:p.Gln102_Leu151delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000556009.5:c.369C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "ENST00000557510.5:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451206.1:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000451206.1:p.Gln102_Pro174delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerLeuSerGlyGlyGluArgAlaTrpValGluGlyArgLysTrpArgArgAsnGlnThrGluThrLysSerValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139710782",
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_006432.3:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006423.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_006423.1:p.Gln102_Leu151delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828102968",
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_001363688.1:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350617.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_001350617.1:p.Gln102_Pro174delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerLeuSerGlyGlyGluArgAlaTrpValGluGlyArgLysTrpArgArgAsnGlnThrGluThrLysSerValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139710782",
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_006432.4:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006423.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_006423.1:p.Gln102_Leu151delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828609042",
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_001375440.1:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362369.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_001362369.1:p.Gln102_Leu125delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139710782",
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014537",
      "geneNCBI_id": 10577,
      "geneSymbol": "NPC2",
      "hgvs": [
        "NM_006432.5:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006423.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_006423.1:p.Gln102_Leu151delinsLysAspLysThrTyrSerTyrLeuAsnLysLeuProValLysSerGluTyrProSerIleLysLeuValValGluTrpGlnLeuGlnAspAspLysAsnGlnSerLeuPheCysTrpGluIleProValGlnIleValSerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555619.6:c.304C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006432.5:c.304C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000451112.2:p.Gln102Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006423.1:p.Gln102Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}