{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12775094",
  "communityStandardTitle": [
    "NM_173685.4(NSMCE2):c.418+73132T>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.126267630T>G?assembly=hg19",
        "id": "chr8:g.126267630T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.125255388T>G?assembly=hg38",
        "id": "chr8:g.125255388T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7008482",
        "rs": 7008482
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-126267630-T-G?dataset=gnomad_r2_1",
        "id": "8-126267630-T-G",
        "variant": "8:126267630 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-125255388-T-G?dataset=gnomad_r3",
        "id": "8-125255388-T-G",
        "variant": "8:125255388 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-125255388-T-G?dataset=gnomad_r4",
        "id": "8-125255388-T-G",
        "variant": "8:125255388 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 125255388,
          "referenceAllele": "T",
          "start": 125255387
        }
      ],
      "hgvs": [
        "NC_000008.11:g.125255388T>G",
        "CM000670.2:g.125255388T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 126267630,
          "referenceAllele": "T",
          "start": 126267629
        }
      ],
      "hgvs": [
        "NC_000008.10:g.126267630T>G",
        "CM000670.1:g.126267630T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 126336812,
          "referenceAllele": "T",
          "start": 126336811
        }
      ],
      "hgvs": [
        "NC_000008.9:g.126336812T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168571,
          "referenceAllele": "T",
          "start": 168570
        }
      ],
      "hgvs": [
        "NG_053069.1:g.168571T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617367"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 627,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "ENST00000287437.8:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287437.3:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287437.8:c.418+73132T>G"
          },
          "RefSeq": {
            "hgvs": "NM_173685.4:c.418+73132T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287437.3:n.418+73132T>G"
          },
          "RefSeq": {
            "hgvs": "NP_775956.1:n.418+73132T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 634,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "ENST00000287437.7:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287437.3:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 437,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "ENST00000517315.1:c.238+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428846.1:n.238+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 680,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "ENST00000517532.5:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429612.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 521,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "ENST00000522563.5:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430668.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 646,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "NM_173685.2:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_775956.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 654,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_005250875.2:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250932.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_005250876.3:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250933.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 711,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 711,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_011516974.1:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515276.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_011516975.1:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515277.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 568,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 568,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "NM_001349485.1:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336414.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 701,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 701,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "NM_001349486.1:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336415.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518755"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "NM_173685.3:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_775956.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 800,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "NR_146191.1:n.800+73132T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 716,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 716,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_011516974.2:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515276.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 608,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_011516975.2:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515277.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_017013330.2:c.424+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868819.1:n.424+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 684,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_017013331.1:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868820.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 846,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_017013332.2:c.424+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868821.1:n.424+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_017013333.1:c.238+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868822.1:n.238+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566666"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 687,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 687,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "XM_024447130.1:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302898.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 627,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "NM_173685.4:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_775956.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672705",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287437.8:c.418+73132T>G"
          },
          "RefSeq": {
            "hgvs": "NM_173685.4:c.418+73132T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287437.3:n.418+73132T>G"
          },
          "RefSeq": {
            "hgvs": "NP_775956.1:n.418+73132T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 531,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "NM_001349485.2:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336414.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "NM_001349486.2:c.418+73132T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336415.1:n.418+73132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 763,
          "endIntronDirection": "+",
          "endIntronOffset": 73132,
          "referenceAllele": "T",
          "start": 763,
          "startIntronDirection": "+",
          "startIntronOffset": 73131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026513",
      "geneNCBI_id": 286053,
      "geneSymbol": "NSMCE2",
      "hgvs": [
        "NR_146191.2:n.763+73132T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731218"
    }
  ],
  "type": "nucleotide"
}