{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2394237",
  "communityStandardTitle": [
    "NM_002292.4(LAMB2):c.2720+13C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=292037[alleleid]",
        "alleleId": 292037,
        "preferredName": "NM_002292.4(LAMB2):c.2720+13C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/345997",
        "RCV": [
          "RCV000276749",
          "RCV000331713",
          "RCV002520159"
        ],
        "variationId": 345997
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-49162673-G-T",
        "id": "3-49162673-G-T",
        "variant": "3:49162673 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49162673G>T?assembly=hg19",
        "id": "chr3:g.49162673G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49125240G>T?assembly=hg38",
        "id": "chr3:g.49125240G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369359244",
        "rs": 369359244
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-49162673-G-T?dataset=gnomad_r2_1",
        "id": "3-49162673-G-T",
        "variant": "3:49162673 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-49125240-G-T?dataset=gnomad_r3",
        "id": "3-49125240-G-T",
        "variant": "3:49125240 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-49125240-G-T?dataset=gnomad_r4",
        "id": "3-49125240-G-T",
        "variant": "3:49125240 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 49125240,
          "referenceAllele": "G",
          "start": 49125239
        }
      ],
      "hgvs": [
        "NC_000003.12:g.49125240G>T",
        "CM000665.2:g.49125240G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 49162673,
          "referenceAllele": "G",
          "start": 49162672
        }
      ],
      "hgvs": [
        "NC_000003.11:g.49162673G>T",
        "CM000665.1:g.49162673G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 49137677,
          "referenceAllele": "G",
          "start": 49137676
        }
      ],
      "hgvs": [
        "NC_000003.10:g.49137677G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12927,
          "referenceAllele": "C",
          "start": 12926
        }
      ],
      "hgvs": [
        "NG_008094.1:g.12927C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "hgvs": [
        "NG_054716.1:g.699C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2903,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 2903,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000305544.9:c.2720+13C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307156.4:n.2720+13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.2720+13C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.2720+13C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:n.2720+13C>A"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:n.2720+13C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2873,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 2873,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000305544.8:c.2720+13C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307156.4:n.2720+13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 2885,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000418109.5:c.2720+13C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388325.1:n.2720+13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000462930.5:n.127+13C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "endIntronDirection": "+",
          "endIntronOffset": 29,
          "referenceAllele": "C",
          "start": 453,
          "startIntronDirection": "+",
          "startIntronOffset": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000464891.5:n.453+29C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 320,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000483057.1:n.320+13C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "endIntronDirection": "-",
          "endIntronOffset": 70,
          "referenceAllele": "C",
          "start": 425,
          "startIntronDirection": "-",
          "startIntronOffset": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000486298.5:n.426-71C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3019,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 3019,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.3:c.2720+13C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:n.2720+13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2818,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 2818,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.3:c.2720+13C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:n.2720+13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2833,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 2833,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.4:c.2720+13C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:n.2720+13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2903,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 2903,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.4:c.2720+13C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:n.2720+13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.2720+13C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.2720+13C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:n.2720+13C>A"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:n.2720+13C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}