{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA352686324",
  "communityStandardTitle": [
    "NM_002292.4(LAMB2):c.4923+2T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1934680[alleleid]",
        "alleleId": 1934680,
        "preferredName": "NM_002292.4(LAMB2):c.4923+2T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2203391",
        "RCV": [
          "RCV002664311"
        ],
        "variationId": 2203391
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49159375A>C?assembly=hg19",
        "id": "chr3:g.49159375A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49121942A>C?assembly=hg38",
        "id": "chr3:g.49121942A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1575527152",
        "rs": 1575527152
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 49121942,
          "referenceAllele": "A",
          "start": 49121941
        }
      ],
      "hgvs": [
        "NC_000003.12:g.49121942A>C",
        "CM000665.2:g.49121942A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 49159375,
          "referenceAllele": "A",
          "start": 49159374
        }
      ],
      "hgvs": [
        "NC_000003.11:g.49159375A>C",
        "CM000665.1:g.49159375A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 49134379,
          "referenceAllele": "A",
          "start": 49134378
        }
      ],
      "hgvs": [
        "NC_000003.10:g.49134379A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16225,
          "referenceAllele": "T",
          "start": 16224
        }
      ],
      "hgvs": [
        "NG_008094.1:g.16225T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3997,
          "referenceAllele": "T",
          "start": 3996
        }
      ],
      "hgvs": [
        "NG_054716.1:g.3997T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5106,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5106,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000305544.9:c.4923+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307156.4:n.4923+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.4923+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.4923+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:n.4923+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:n.4923+2T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5076,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5076,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000305544.8:c.4923+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307156.4:n.4923+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5088,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5088,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000418109.5:c.4923+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388325.1:n.4923+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 33,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000467506.5:n.33+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 578,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 578,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000498377.1:n.578+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5222,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5222,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.3:c.4923+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:n.4923+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5021,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5021,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.3:c.4923+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:n.4923+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5036,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5036,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.4:c.4923+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:n.4923+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5106,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5106,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.4:c.4923+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:n.4923+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.4923+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.4923+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:n.4923+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:n.4923+2T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}