{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7270049",
  "communityStandardTitle": [
    "NM_000428.3(LTBP2):c.905C>T (p.Pro302Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1214080",
        "active": true,
        "id": "COSM1214080"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=872612[alleleid]",
        "alleleId": 872612,
        "preferredName": "NM_000428.3(LTBP2):c.905C>T (p.Pro302Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/885009",
        "RCV": [
          "RCV001116363",
          "RCV001116364"
        ],
        "variationId": 885009
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-75022322-G-A",
        "id": "14-75022322-G-A",
        "variant": "14:75022322 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.75022322G>A?assembly=hg19",
        "id": "chr14:g.75022322G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74555619G>A?assembly=hg38",
        "id": "chr14:g.74555619G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/557904436",
        "rs": 557904436
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-75022322-G-A?dataset=gnomad_r2_1",
        "id": "14-75022322-G-A",
        "variant": "14:75022322 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74555619-G-A?dataset=gnomad_r3",
        "id": "14-74555619-G-A",
        "variant": "14:74555619 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74555619-G-A?dataset=gnomad_r4",
        "id": "14-74555619-G-A",
        "variant": "14:74555619 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74555619,
          "referenceAllele": "G",
          "start": 74555618
        }
      ],
      "hgvs": [
        "NC_000014.9:g.74555619G>A",
        "CM000676.2:g.74555619G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 75022322,
          "referenceAllele": "G",
          "start": 75022321
        }
      ],
      "hgvs": [
        "NC_000014.8:g.75022322G>A",
        "CM000676.1:g.75022322G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74092075,
          "referenceAllele": "G",
          "start": 74092074
        }
      ],
      "hgvs": [
        "NC_000014.7:g.74092075G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61713,
          "referenceAllele": "C",
          "start": 61712
        }
      ],
      "hgvs": [
        "NG_021486.1:g.61713C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "ENST00000261978.9:c.905C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261978.4:p.Pro302Leu",
        "hgvsWellDefined": "ENSP00000261978.4:p.Pro302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742250",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261978.9:c.905C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000428.3:c.905C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261978.4:p.Pro302Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000419.1:p.Pro302Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "ENST00000261978.8:c.905C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261978.4:p.Pro302Leu",
        "hgvsWellDefined": "ENSP00000261978.4:p.Pro302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "ENST00000553939.5:c.905C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452110.1:p.Pro302Leu",
        "hgvsWellDefined": "ENSP00000452110.1:p.Pro302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "ENST00000556690.5:c.905C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451477.1:p.Pro302Leu",
        "hgvsWellDefined": "ENSP00000451477.1:p.Pro302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 4268,
          "referenceAllele": "C",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 4269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "ENST00000557425.1:n.124-4269C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139689912",
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "NM_000428.2:c.905C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000419.1:p.Pro302Leu",
        "hgvsWellDefined": "NP_000419.1:p.Pro302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1200,
          "referenceAllele": "C",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "XM_011536765.1:c.905C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535067.1:p.Pro302Leu",
        "hgvsWellDefined": "XP_011535067.1:p.Pro302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "XM_011536766.1:c.446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535068.1:p.Pro149Leu",
        "hgvsWellDefined": "XP_011535068.1:p.Pro149Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "XM_011536767.1:c.422C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535069.1:p.Pro141Leu",
        "hgvsWellDefined": "XP_011535069.1:p.Pro141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "XM_011536765.2:c.905C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535067.1:p.Pro302Leu",
        "hgvsWellDefined": "XP_011535067.1:p.Pro302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139689912",
      "coordinates": [
        {
          "allele": "T",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006715",
      "geneNCBI_id": 4053,
      "geneSymbol": "LTBP2",
      "hgvs": [
        "NM_000428.3:c.905C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000419.1:p.Pro302Leu",
        "hgvsWellDefined": "NP_000419.1:p.Pro302Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662438",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261978.9:c.905C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000428.3:c.905C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261978.4:p.Pro302Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000419.1:p.Pro302Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}