{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA201936",
  "communityStandardTitle": [
    "NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192938[alleleid]",
        "alleleId": 192938,
        "preferredName": "NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195777",
        "RCV": [
          "RCV000176426",
          "RCV000415806",
          "RCV001135582",
          "RCV000986865",
          "RCV001135581",
          "RCV001085304",
          "RCV001171333",
          "RCV002277374"
        ],
        "variationId": 195777
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-166747445-G-C",
        "id": "2-166747445-G-C",
        "variant": "2:166747445 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166747445G>C?assembly=hg19",
        "id": "chr2:g.166747445G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165890935G>C?assembly=hg38",
        "id": "chr2:g.165890935G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146496725",
        "rs": 146496725
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-166747445-G-C?dataset=gnomad_r2_1",
        "id": "2-166747445-G-C",
        "variant": "2:166747445 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-165890935-G-C?dataset=gnomad_r3",
        "id": "2-165890935-G-C",
        "variant": "2:165890935 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-165890935-G-C?dataset=gnomad_r4",
        "id": "2-165890935-G-C",
        "variant": "2:165890935 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 165890935,
          "referenceAllele": "G",
          "start": 165890934
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165890935G>C",
        "CM000664.2:g.165890935G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166747445,
          "referenceAllele": "G",
          "start": 166747444
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166747445G>C",
        "CM000664.1:g.166747445G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166455691,
          "referenceAllele": "G",
          "start": 166455690
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166455691G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67904,
          "referenceAllele": "C",
          "start": 67903
        }
      ],
      "hgvs": [
        "NG_030345.1:g.67904C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004902"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3075,
          "referenceAllele": "C",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000243344.8:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243344.7:p.Leu1002Val",
        "hgvsWellDefined": "ENSP00000243344.7:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741172",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243344.8:c.3004C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024753.5:c.3004C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243344.7:p.Leu1002Val"
          },
          "RefSeq": {
            "hgvs": "NP_079029.3:p.Leu1002Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "referenceAllele": "C",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000652557.1:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498617.1:p.Leu1002Val",
        "hgvsWellDefined": "ENSP00000498617.1:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "referenceAllele": "C",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679356.1:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506245.1:p.Leu1002Val",
        "hgvsWellDefined": "ENSP00000506245.1:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3006,
          "referenceAllele": "C",
          "start": 3005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679676.1:c.2893C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505492.1:p.Leu965Val",
        "hgvsWellDefined": "ENSP00000505492.1:p.Leu965Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "referenceAllele": "C",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679799.1:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505208.1:p.Leu1002Val",
        "hgvsWellDefined": "ENSP00000505208.1:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "referenceAllele": "C",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679840.1:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505248.1:p.Leu1002Val",
        "hgvsWellDefined": "ENSP00000505248.1:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3127,
          "referenceAllele": "C",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679931.1:c.*2046C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505632.1:n.*2046C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3106,
          "referenceAllele": "C",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000679967.1:c.2995C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506607.1:p.Leu999Val",
        "hgvsWellDefined": "ENSP00000506607.1:p.Leu999Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779589"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3127,
          "referenceAllele": "C",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680327.1:c.*2046C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506639.1:n.*2046C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "referenceAllele": "C",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680657.1:n.3115C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3191,
          "referenceAllele": "C",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680690.1:c.*2256C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506121.1:n.*2256C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3150,
          "referenceAllele": "C",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680888.1:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506276.1:p.Leu1002Val",
        "hgvsWellDefined": "ENSP00000506276.1:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680925.1:n.1034C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2971,
          "referenceAllele": "C",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000680947.1:c.*2276C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506496.1:n.*2276C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3120,
          "referenceAllele": "C",
          "start": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681024.1:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506449.1:p.Leu1002Val",
        "hgvsWellDefined": "ENSP00000506449.1:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3171,
          "referenceAllele": "C",
          "start": 3170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681083.1:c.*2738C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506095.1:n.*2738C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2878,
          "referenceAllele": "C",
          "start": 2877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681167.1:n.2878C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3075,
          "referenceAllele": "C",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681483.1:c.2964C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505499.1:p.Asn988Lys",
        "hgvsWellDefined": "ENSP00000505499.1:p.Asn988Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7041,
          "referenceAllele": "C",
          "start": 7040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681502.1:c.*6264C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505644.1:n.*6264C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3072,
          "referenceAllele": "C",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681819.1:c.2961C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505673.1:p.Asn987Lys",
        "hgvsWellDefined": "ENSP00000505673.1:p.Asn987Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3115,
          "referenceAllele": "C",
          "start": 3114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000681952.1:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506400.1:p.Leu1002Val",
        "hgvsWellDefined": "ENSP00000506400.1:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781550"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3142,
          "referenceAllele": "C",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "ENST00000243344.7:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243344.7:p.Leu1002Val",
        "hgvsWellDefined": "ENSP00000243344.7:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA201937",
      "coordinates": [
        {
          "allele": "G",
          "end": 3137,
          "referenceAllele": "C",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "NM_024753.4:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079029.3:p.Leu1002Val",
        "hgvsWellDefined": "NP_079029.3:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2657,
          "referenceAllele": "C",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_011511870.1:c.2437C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510172.1:p.Leu813Val",
        "hgvsWellDefined": "XP_011510172.1:p.Leu813Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2390,
          "referenceAllele": "C",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_011511871.1:c.2254C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510173.1:p.Leu752Val",
        "hgvsWellDefined": "XP_011510173.1:p.Leu752Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3111,
          "referenceAllele": "C",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_011511872.1:c.*206C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510174.1:n.*206C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6383,
          "referenceAllele": "C",
          "start": 6382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_011511871.3:c.2254C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510173.1:p.Leu752Val",
        "hgvsWellDefined": "XP_011510173.1:p.Leu752Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3111,
          "referenceAllele": "C",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_011511872.2:c.*206C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510174.1:n.*206C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3080,
          "referenceAllele": "C",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_017004967.1:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860456.1:p.Leu1002Val",
        "hgvsWellDefined": "XP_016860456.1:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5814,
          "referenceAllele": "C",
          "start": 5813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_017004968.2:c.2350C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860457.1:p.Leu784Val",
        "hgvsWellDefined": "XP_016860457.1:p.Leu784Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2797,
          "referenceAllele": "C",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "XM_017004969.1:c.2005C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860458.1:p.Leu669Val",
        "hgvsWellDefined": "XP_016860458.1:p.Leu669Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA201937",
      "coordinates": [
        {
          "allele": "G",
          "end": 3075,
          "referenceAllele": "C",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025660",
      "geneNCBI_id": 79809,
      "geneSymbol": "TTC21B",
      "hgvs": [
        "NM_024753.5:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079029.3:p.Leu1002Val",
        "hgvsWellDefined": "NP_079029.3:p.Leu1002Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243344.8:c.3004C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024753.5:c.3004C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243344.7:p.Leu1002Val"
          },
          "RefSeq": {
            "hgvs": "NP_079029.3:p.Leu1002Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}