{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1745930157",
  "communityStandardTitle": [
    "NM_001006630.2(CHRM2):c.-125+42292A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7810473",
        "rs": 7810473
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1460203102",
        "rs": 1460203102
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 136911710,
          "referenceAllele": "A",
          "start": 136911709
        }
      ],
      "hgvs": [
        "NC_000007.14:g.136911710A=",
        "CM000669.2:g.136911710A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 136596457,
          "referenceAllele": "A",
          "start": 136596456
        }
      ],
      "hgvs": [
        "NC_000007.13:g.136596457A=",
        "CM000669.1:g.136596457A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 136246997,
          "referenceAllele": "A",
          "start": 136246996
        }
      ],
      "hgvs": [
        "NC_000007.12:g.136246997A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48059,
          "referenceAllele": "A",
          "start": 48058
        }
      ],
      "hgvs": [
        "NG_011846.2:g.48059A=",
        "LRG_405:g.48059A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002025"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "ENST00000680005.1:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505686.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779627",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000680005.1:c.-125+42292A="
          },
          "RefSeq": {
            "hgvs": "NM_001006630.2:c.-125+42292A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505686.1:n.-125+42292A="
          },
          "RefSeq": {
            "hgvs": "NP_001006631.1:n.-125+42292A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "ENST00000320658.9:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319984.5:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 39292,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 39293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "ENST00000401861.1:c.-202-39293A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384401.1:n.-202-39293A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 482,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "ENST00000445907.6:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399745.2:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "ENST00000453373.5:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415386.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_000739.2:c.-125+42292A=",
        "LRG_405t1:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000730.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 39292,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 39293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006626.1:c.-202-39293A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006627.1:n.-202-39293A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006627.1:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006628.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006628.1:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006629.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006629.1:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006630.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006630.1:c.-125+42292A=",
        "LRG_405t2:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006631.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006631.1:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006632.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006632.1:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006633.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "endIntronDirection": "-",
          "endIntronOffset": 9708,
          "referenceAllele": "T",
          "start": 341,
          "startIntronDirection": "-",
          "startIntronOffset": 9709
        }
      ],
      "hgvs": [
        "NR_046103.1:n.342-9709T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 514,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "XM_024446648.1:c.-237+42292A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302416.1:n.-237+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 39292,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 39293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006626.2:c.-202-39293A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006627.1:n.-202-39293A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006627.2:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006628.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006628.2:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006629.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006629.2:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006630.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006631.2:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006632.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006632.2:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006633.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_000739.3:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000730.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 39292,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 39293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006626.3:c.-202-39293A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006627.1:n.-202-39293A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006627.3:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006628.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006628.3:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006629.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006629.3:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006630.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006630.2:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006631.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711198",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000680005.1:c.-125+42292A="
          },
          "RefSeq": {
            "hgvs": "NM_001006630.2:c.-125+42292A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505686.1:n.-125+42292A="
          },
          "RefSeq": {
            "hgvs": "NP_001006631.1:n.-125+42292A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006631.3:c.-125+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006632.1:n.-125+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001006632.3:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001006633.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711200"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001378972.1:c.-237+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365901.1:n.-237+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 42292,
          "referenceAllele": "A",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 42291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001951",
      "geneNCBI_id": 1129,
      "geneSymbol": "CHRM2",
      "hgvs": [
        "NM_001378973.1:c.-47+42292A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365902.1:n.-47+42292A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721871"
    }
  ],
  "type": "nucleotide"
}