{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA260008",
  "communityStandardTitle": [
    "NM_001044385.3(TMEM237):c.943+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40141[alleleid]",
        "alleleId": 40141,
        "preferredName": "NM_001044385.3(TMEM237):c.943+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31184",
        "RCV": [
          "RCV000024183"
        ],
        "variationId": 31184
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-202492798-C-A",
        "id": "2-202492798-C-A",
        "variant": "2:202492798 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202492798C>A?assembly=hg19",
        "id": "chr2:g.202492798C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.201628075C>A?assembly=hg38",
        "id": "chr2:g.201628075C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748510210",
        "rs": 748510210
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-202492798-C-A?dataset=gnomad_r2_1",
        "id": "2-202492798-C-A",
        "variant": "2:202492798 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-201628075-C-A?dataset=gnomad_r4",
        "id": "2-201628075-C-A",
        "variant": "2:201628075 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 201628075,
          "referenceAllele": "C",
          "start": 201628074
        }
      ],
      "hgvs": [
        "NC_000002.12:g.201628075C>A",
        "CM000664.2:g.201628075C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 202492798,
          "referenceAllele": "C",
          "start": 202492797
        }
      ],
      "hgvs": [
        "NC_000002.11:g.202492798C>A",
        "CM000664.1:g.202492798C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 202201043,
          "referenceAllele": "C",
          "start": 202201042
        }
      ],
      "hgvs": [
        "NC_000002.10:g.202201043C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20455,
          "referenceAllele": "G",
          "start": 20454
        }
      ],
      "hgvs": [
        "NG_032049.1:g.20455G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 833,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000471318.6:n.833+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1266,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000621467.5:c.817+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480508.2:n.817+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 883,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000686475.1:n.883+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1046,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000409883.7:c.943+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386264.2:n.943+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754345",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409883.7:c.943+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001044385.3:c.943+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386264.2:n.943+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001037850.1:n.943+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1022,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000286196.9:c.*507+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286196.5:n.*507+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1237,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000409444.6:c.919+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387203.2:n.919+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1060,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000409883.6:c.943+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386264.2:n.943+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 641,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 641,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000466641.5:n.641+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 811,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000466839.5:n.811+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000471318.5:n.265+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 985,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "ENST00000621467.4:c.919+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480508.1:n.919+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1072,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "NM_001044385.2:c.943+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001037850.1:n.943+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1237,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "NM_152388.3:c.919+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689601.2:n.919+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1046,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "NM_001044385.3:c.943+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001037850.1:n.943+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409883.7:c.943+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001044385.3:c.943+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386264.2:n.943+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001037850.1:n.943+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 963,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 963,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "NM_152388.4:c.919+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689601.2:n.919+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700165"
    }
  ],
  "type": "nucleotide"
}