{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA322268972",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.1449+2T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2832687[alleleid]",
        "alleleId": 2832687,
        "preferredName": "NM_006767.4(LZTR1):c.1449+2T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676390",
        "RCV": [
          "RCV003470013"
        ],
        "variationId": 2676390
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21348310T>G?assembly=hg19",
        "id": "chr22:g.21348310T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20994021T>G?assembly=hg38",
        "id": "chr22:g.20994021T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1036772752",
        "rs": 1036772752
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20994021-T-G?dataset=gnomad_r4",
        "id": "22-20994021-T-G",
        "variant": "22:20994021 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 20994021,
          "referenceAllele": "T",
          "start": 20994020
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20994021T>G",
        "CM000684.2:g.20994021T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 21348310,
          "referenceAllele": "T",
          "start": 21348309
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21348310T>G",
        "CM000684.1:g.21348310T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 19678310,
          "referenceAllele": "T",
          "start": 19678309
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19678310T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16753,
          "referenceAllele": "T",
          "start": 16752
        }
      ],
      "hgvs": [
        "NG_034193.1:g.16753T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1531,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1531,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.1449+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:n.1449+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 794,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.6:n.794+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1280,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1280,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.1280+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1471,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1471,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643578.1:n.1471+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643710.1:n.310+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1524,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.1449+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:n.1449+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1449+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1449+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:n.1449+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:n.1449+2T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1028,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1028,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.1028+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1808,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1808,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.1449+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:n.1449+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1595,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1595,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.1595+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 498,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 498,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000492480.1:n.498+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1552,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1552,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.1449+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:n.1449+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1524,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.1449+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:n.1449+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.1449+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.1449+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:n.1449+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:n.1449+2T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}