{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342980",
  "communityStandardTitle": [
    "NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46917[alleleid]",
        "alleleId": 46917,
        "preferredName": "NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1810247",
        "RCV": [
          "RCV002508895",
          "RCV003111578",
          "RCV003465776"
        ],
        "variationId": 1810247
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27535456C>G?assembly=hg19",
        "id": "chr2:g.27535456C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.27312589C>G?assembly=hg38",
        "id": "chr2:g.27312589C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607257",
        "rs": 267607257
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-27312589-C-G?dataset=gnomad_r4",
        "id": "2-27312589-C-G",
        "variant": "2:27312589 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27312589,
          "referenceAllele": "C",
          "start": 27312588
        }
      ],
      "hgvs": [
        "NC_000002.12:g.27312589C>G",
        "CM000664.2:g.27312589C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27535456,
          "referenceAllele": "C",
          "start": 27535455
        }
      ],
      "hgvs": [
        "NC_000002.11:g.27535456C>G",
        "CM000664.1:g.27535456C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 27388960,
          "referenceAllele": "C",
          "start": 27388959
        }
      ],
      "hgvs": [
        "NC_000002.10:g.27388960C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14976,
          "referenceAllele": "G",
          "start": 14975
        }
      ],
      "hgvs": [
        "NG_008075.1:g.14976G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "hgvs": [
        "NG_033055.1:g.675G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "referenceAllele": "G",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000380044.6:c.280G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369383.1:p.Gly94Arg",
        "hgvsWellDefined": "ENSP00000369383.1:p.Gly94Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.280G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002437.5:c.280G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369383.1:p.Gly94Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002428.1:p.Gly94Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "referenceAllele": "G",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000233545.6:c.280G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233545.2:p.Gly94Arg",
        "hgvsWellDefined": "ENSP00000233545.2:p.Gly94Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000357186.10:c.112G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349713.6:p.Gly38Arg",
        "hgvsWellDefined": "ENSP00000349713.6:p.Gly38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 336,
          "referenceAllele": "G",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000380044.5:c.280G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369383.1:p.Gly94Arg",
        "hgvsWellDefined": "ENSP00000369383.1:p.Gly94Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000402310.5:c.280G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383955.1:p.Gly94Arg",
        "hgvsWellDefined": "ENSP00000383955.1:p.Gly94Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000402722.5:c.245G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386000.1:p.Gly82Ala",
        "hgvsWellDefined": "ENSP00000386000.1:p.Gly82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 301,
          "referenceAllele": "G",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000403262.6:c.280G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385671.1:p.Gly94Arg",
        "hgvsWellDefined": "ENSP00000385671.1:p.Gly94Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "endIntronDirection": "-",
          "endIntronOffset": 342,
          "referenceAllele": "G",
          "start": 242,
          "startIntronDirection": "-",
          "startIntronOffset": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000405076.5:c.187-343G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385175.1:n.187-343G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000405983.5:c.325G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384586.1:p.Gly109Arg",
        "hgvsWellDefined": "ENSP00000384586.1:p.Gly109Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "referenceAllele": "G",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000415514.5:c.*81G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388043.1:n.*81G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000426513.6:c.245G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403824.2:p.Gly82Ala",
        "hgvsWellDefined": "ENSP00000403824.2:p.Gly82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000428910.5:c.202G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405235.1:p.Gly68Arg",
        "hgvsWellDefined": "ENSP00000405235.1:p.Gly68Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 209,
          "endIntronDirection": "+",
          "endIntronOffset": 91,
          "referenceAllele": "G",
          "start": 209,
          "startIntronDirection": "+",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000430991.5:c.209+91G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "G",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000475085.1:n.308G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000616446.1:n.257G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000616707.1:n.799G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000617583.4:n.306G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 336,
          "referenceAllele": "G",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000621183.4:n.336G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000621470.4:n.296G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "ENST00000622003.4:n.453G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342981",
      "coordinates": [
        {
          "allele": "C",
          "end": 336,
          "referenceAllele": "G",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.4:c.280G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:p.Gly94Arg",
        "hgvsWellDefined": "NP_002428.1:p.Gly94Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264326.2:c.280G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264383.1:p.Gly94Arg",
        "hgvsWellDefined": "XP_005264383.1:p.Gly94Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2879,
          "referenceAllele": "G",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264327.2:c.121G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264384.1:p.Gly41Arg",
        "hgvsWellDefined": "XP_005264384.1:p.Gly41Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_006712021.2:c.232G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712084.1:p.Gly78Arg",
        "hgvsWellDefined": "XP_006712084.1:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "G",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_005264326.4:c.280G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264383.1:p.Gly94Arg",
        "hgvsWellDefined": "XP_005264383.1:p.Gly94Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_006712021.3:c.232G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712084.1:p.Gly78Arg",
        "hgvsWellDefined": "XP_006712084.1:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3565,
          "referenceAllele": "G",
          "start": 3564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004150.1:c.262G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859639.1:p.Gly88Arg",
        "hgvsWellDefined": "XP_016859639.1:p.Gly88Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004151.1:c.232G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859640.1:p.Gly78Arg",
        "hgvsWellDefined": "XP_016859640.1:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004152.1:c.121G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859641.1:p.Gly41Arg",
        "hgvsWellDefined": "XP_016859641.1:p.Gly41Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_024452913.1:c.232G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308681.1:p.Gly78Arg",
        "hgvsWellDefined": "XP_024308681.1:p.Gly78Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342981",
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "referenceAllele": "G",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.5:c.280G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:p.Gly94Arg",
        "hgvsWellDefined": "NP_002428.1:p.Gly94Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.280G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002437.5:c.280G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369383.1:p.Gly94Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002428.1:p.Gly94Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}