{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2323501238",
  "communityStandardTitle": [
    "NM_000528.4(MAN2B1):c.1831-2A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338678",
        "rs": 80338678
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12652462,
          "referenceAllele": "T",
          "start": 12652461
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12652462T=",
        "CM000681.2:g.12652462T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12763276,
          "referenceAllele": "T",
          "start": 12763275
        }
      ],
      "hgvs": [
        "NC_000019.9:g.12763276T=",
        "CM000681.1:g.12763276T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12624276,
          "referenceAllele": "T",
          "start": 12624275
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12624276T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19316,
          "referenceAllele": "A",
          "start": 19315
        }
      ],
      "hgvs": [
        "NG_008318.1:g.19316A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001025"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1871,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.7:c.1831-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:n.1831-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.1831-2A="
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.1831-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:n.1831-2A="
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:n.1831-2A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1860,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1860,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000221363.8:c.1828-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221363.4:n.1828-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000433513.5:n.437-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1871,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.6:c.1831-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:n.1831-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2420,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2420,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000466794.5:n.2421-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000593686.1:c.424-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 427,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000595880.5:n.428-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 194,
          "endIntronDirection": "-",
          "endIntronOffset": 32,
          "referenceAllele": "A",
          "start": 194,
          "startIntronDirection": "-",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000596591.1:c.195-33A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1906,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1906,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.3:c.1831-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:n.1831-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1903,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.1:c.1828-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:n.1828-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1887,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.1:c.1834-2A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:n.1834-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 888,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 888,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_011528017.1:c.730-2A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526319.1:n.730-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1874,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1874,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.2:c.1834-2A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:n.1834-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1772,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1772,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_024451518.1:c.730-2A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307286.1:n.730-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1871,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.4:c.1831-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:n.1831-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.1831-2A="
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.1831-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:n.1831-2A="
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:n.1831-2A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1868,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1868,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.2:c.1828-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:n.1828-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713478"
    }
  ],
  "type": "nucleotide"
}