{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10635892",
  "communityStandardTitle": [
    "NM_001378373.1(MBL2):c.*2067C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=322346[alleleid]",
        "alleleId": 322346,
        "preferredName": "NM_001378373.1(MBL2):c.*2067C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/300111",
        "RCV": [
          "RCV000344465"
        ],
        "variationId": 300111
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.54525830G>A?assembly=hg19",
        "id": "chr10:g.54525830G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.52766070G>A?assembly=hg38",
        "id": "chr10:g.52766070G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/542103508",
        "rs": 542103508
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-54525830-G-A?dataset=gnomad_r2_1",
        "id": "10-54525830-G-A",
        "variant": "10:54525830 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-52766070-G-A?dataset=gnomad_r3",
        "id": "10-52766070-G-A",
        "variant": "10:52766070 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-52766070-G-A?dataset=gnomad_r4",
        "id": "10-52766070-G-A",
        "variant": "10:52766070 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 52766070,
          "referenceAllele": "G",
          "start": 52766069
        }
      ],
      "hgvs": [
        "NC_000010.11:g.52766070G>A",
        "CM000672.2:g.52766070G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 54525830,
          "referenceAllele": "G",
          "start": 54525829
        }
      ],
      "hgvs": [
        "NC_000010.10:g.54525830G>A",
        "CM000672.1:g.54525830G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 54195836,
          "referenceAllele": "G",
          "start": 54195835
        }
      ],
      "hgvs": [
        "NC_000010.9:g.54195836G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10631,
          "referenceAllele": "C",
          "start": 10630
        }
      ],
      "hgvs": [
        "NG_008196.1:g.10631C>T",
        "LRG_154:g.10631C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000938"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2871,
          "referenceAllele": "C",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "ENST00000674931.1:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502789.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674931.1:c.*2067C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378373.1:c.*2067C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502789.1:n.*2067C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001365302.1:n.*2067C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2886,
          "referenceAllele": "C",
          "start": 2885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "ENST00000675947.1:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502615.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2879,
          "referenceAllele": "C",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "ENST00000373968.3:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363079.3:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2879,
          "referenceAllele": "C",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "NM_000242.2:c.*2067C>T",
        "LRG_154t1:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000233.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2941,
          "referenceAllele": "C",
          "start": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "XM_006717861.2:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717924.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2928,
          "referenceAllele": "C",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "XM_011539816.1:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538118.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2949,
          "referenceAllele": "C",
          "start": 2948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "XM_006717861.4:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717924.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2933,
          "referenceAllele": "C",
          "start": 2932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "XM_011539816.3:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538118.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2831,
          "referenceAllele": "C",
          "start": 2830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "NM_000242.3:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000233.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2871,
          "referenceAllele": "C",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "NM_001378373.1:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365302.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721667",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674931.1:c.*2067C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378373.1:c.*2067C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502789.1:n.*2067C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001365302.1:n.*2067C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2886,
          "referenceAllele": "C",
          "start": 2885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006922",
      "geneNCBI_id": 4153,
      "geneSymbol": "MBL2",
      "hgvs": [
        "NM_001378374.1:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365303.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721668"
    }
  ],
  "type": "nucleotide"
}