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Items: 1 to 20 of 555

1.

rs1489647144 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    4:153270496 (GRCh38)
    4:154191648 (GRCh37)
    Canonical SPDI:
    NC_000004.12:153270495:C:G
    Gene:
    TRIM2 (Varview)
    Functional Consequence:
    coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000004.12:g.153270496C>G, NC_000004.11:g.154191648C>G, NG_041788.1:g.122379C>G, NM_015271.5:c.192C>G, NM_015271.4:c.192C>G, NM_015271.3:c.192C>G, NM_001351056.2:c.111C>G, NM_001351056.1:c.111C>G, NM_001351054.2:c.165C>G, NM_001351054.1:c.165C>G, NM_001351055.2:c.162C>G, NM_001351055.1:c.162C>G, NM_001351057.2:c.-366C>G, NM_001351057.1:c.-366C>G, NM_001130067.2:c.111C>G, NM_001130067.1:c.111C>G, NM_001302694.2:c.165C>G, NM_001302694.1:c.165C>G, NM_001302692.2:c.192C>G, NM_001302692.1:c.192C>G, NM_001302693.2:c.189C>G, NM_001302693.1:c.189C>G, NM_001375512.1:c.111C>G, NM_001375514.1:c.111C>G, NM_001375513.1:c.111C>G, NM_001375488.1:c.192C>G, NM_001375489.1:c.189C>G, NM_001375516.1:c.111C>G, NM_001375515.1:c.111C>G, NM_001375517.1:c.111C>G, NM_001375523.1:c.-98C>G, NM_001375522.1:c.-98C>G, NM_001375490.1:c.192C>G, NM_001375491.1:c.189C>G, NM_001375519.1:c.192C>G, NM_001375520.1:c.189C>G, XM_011531796.4:c.111C>G, XM_011531796.3:c.111C>G, XM_011531796.2:c.111C>G, XM_011531796.1:c.111C>G, XM_017007948.3:c.111C>G, XM_017007948.2:c.111C>G, XM_017007948.1:c.111C>G, XM_006714157.2:c.192C>G, XM_006714157.1:c.192C>G, XM_006714158.2:c.189C>G, XM_006714158.1:c.189C>G, XM_017007943.2:c.189C>G, XM_017007943.1:c.189C>G, XM_047449949.1:c.111C>G, XM_047449952.1:c.111C>G, XM_047449951.1:c.111C>G, XM_047449953.1:c.111C>G, XM_047449954.1:c.111C>G

    2.

    rs1488524141 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      4:153294336 (GRCh38)
      4:154215488 (GRCh37)
      Canonical SPDI:
      NC_000004.12:153294335:A:G
      Gene:
      TRIM2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000004.12:g.153294336A>G, NC_000004.11:g.154215488A>G, NG_041788.1:g.146219A>G, NM_015271.5:c.637A>G, NM_015271.4:c.637A>G, NM_015271.3:c.637A>G, NM_001351056.2:c.556A>G, NM_001351056.1:c.556A>G, NM_001351054.2:c.610A>G, NM_001351054.1:c.610A>G, NM_001351055.2:c.607A>G, NM_001351055.1:c.607A>G, NM_001351057.2:c.181A>G, NM_001351057.1:c.181A>G, NM_001130067.2:c.556A>G, NM_001130067.1:c.556A>G, NM_001375512.1:c.556A>G, NM_001375514.1:c.556A>G, NM_001375513.1:c.556A>G, NM_001375488.1:c.730A>G, NM_001375489.1:c.727A>G, NM_001375516.1:c.556A>G, NM_001375515.1:c.556A>G, NM_001375517.1:c.556A>G, NM_001375523.1:c.298A>G, NM_001375522.1:c.298A>G, NM_001375490.1:c.637A>G, NM_001375491.1:c.634A>G, NM_001375525.1:c.298A>G, XM_006714165.4:c.181A>G, XM_006714165.3:c.181A>G, XM_006714165.2:c.181A>G, XM_006714165.1:c.181A>G, XM_011531796.4:c.556A>G, XM_011531796.3:c.556A>G, XM_011531796.2:c.556A>G, XM_011531796.1:c.556A>G, XM_017007948.3:c.556A>G, XM_017007948.2:c.556A>G, XM_017007948.1:c.556A>G, XM_017007953.3:c.181A>G, XM_017007953.2:c.181A>G, XM_017007953.1:c.181A>G, XM_006714157.2:c.637A>G, XM_006714157.1:c.637A>G, XM_006714158.2:c.634A>G, XM_006714158.1:c.634A>G, XM_017007943.2:c.634A>G, XM_017007943.1:c.634A>G, XM_047449949.1:c.556A>G, XM_047449952.1:c.556A>G, XM_047449951.1:c.556A>G, XM_047449953.1:c.556A>G, XM_047449954.1:c.556A>G, NP_056086.2:p.Ile213Val, NP_001337985.1:p.Ile186Val, NP_001337983.1:p.Ile204Val, NP_001337984.1:p.Ile203Val, NP_001337986.1:p.Ile61Val, NP_001123539.1:p.Ile186Val, NP_001362441.1:p.Ile186Val, NP_001362443.1:p.Ile186Val, NP_001362442.1:p.Ile186Val, NP_001362417.1:p.Ile244Val, NP_001362418.1:p.Ile243Val, NP_001362445.1:p.Ile186Val, NP_001362444.1:p.Ile186Val, NP_001362446.1:p.Ile186Val, NP_001362452.1:p.Ile100Val, NP_001362451.1:p.Ile100Val, NP_001362419.1:p.Ile213Val, NP_001362420.1:p.Ile212Val, NP_001362454.1:p.Ile100Val, XP_006714228.1:p.Ile61Val, XP_011530098.1:p.Ile186Val, XP_016863437.1:p.Ile186Val, XP_016863442.1:p.Ile61Val, XP_006714220.1:p.Ile213Val, XP_006714221.1:p.Ile212Val, XP_016863432.1:p.Ile212Val, XP_047305905.1:p.Ile186Val, XP_047305908.1:p.Ile186Val, XP_047305907.1:p.Ile186Val, XP_047305909.1:p.Ile186Val, XP_047305910.1:p.Ile186Val

      3.

      rs1488492161 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        4:153295554 (GRCh38)
        4:154216706 (GRCh37)
        Canonical SPDI:
        NC_000004.12:153295553:G:C
        Gene:
        TRIM2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000004.12:g.153295554G>C, NC_000004.11:g.154216706G>C, NG_041788.1:g.147437G>C, NM_015271.5:c.1028G>C, NM_015271.4:c.1028G>C, NM_015271.3:c.1028G>C, NM_001351056.2:c.947G>C, NM_001351056.1:c.947G>C, NM_001351054.2:c.1001G>C, NM_001351054.1:c.1001G>C, NM_001351055.2:c.998G>C, NM_001351055.1:c.998G>C, NM_001351057.2:c.572G>C, NM_001351057.1:c.572G>C, NM_001130067.2:c.947G>C, NM_001130067.1:c.947G>C, NM_001375512.1:c.947G>C, NM_001375514.1:c.947G>C, NM_001375513.1:c.947G>C, NM_001375488.1:c.1121G>C, NM_001375489.1:c.1118G>C, NM_001375516.1:c.947G>C, NM_001375515.1:c.947G>C, NM_001375517.1:c.947G>C, NM_001375523.1:c.689G>C, NM_001375522.1:c.689G>C, NM_001375490.1:c.971G>C, NM_001375491.1:c.968G>C, NM_001375525.1:c.689G>C, NM_001375519.1:c.695G>C, NM_001375520.1:c.692G>C, XM_006714165.4:c.572G>C, XM_006714165.3:c.572G>C, XM_006714165.2:c.572G>C, XM_006714165.1:c.572G>C, XM_011531796.4:c.947G>C, XM_011531796.3:c.947G>C, XM_011531796.2:c.947G>C, XM_011531796.1:c.947G>C, XM_017007948.3:c.947G>C, XM_017007948.2:c.947G>C, XM_017007948.1:c.947G>C, XM_017007953.3:c.572G>C, XM_017007953.2:c.572G>C, XM_017007953.1:c.572G>C, XM_006714157.2:c.1028G>C, XM_006714157.1:c.1028G>C, XM_006714158.2:c.1025G>C, XM_006714158.1:c.1025G>C, XM_017007943.2:c.1025G>C, XM_017007943.1:c.1025G>C, XM_047449949.1:c.947G>C, XM_047449952.1:c.947G>C, XM_047449951.1:c.947G>C, XM_047449953.1:c.947G>C, XM_047449954.1:c.947G>C, NP_056086.2:p.Gly343Ala, NP_001337985.1:p.Gly316Ala, NP_001337983.1:p.Gly334Ala, NP_001337984.1:p.Gly333Ala, NP_001337986.1:p.Gly191Ala, NP_001123539.1:p.Gly316Ala, NP_001362441.1:p.Gly316Ala, NP_001362443.1:p.Gly316Ala, NP_001362442.1:p.Gly316Ala, NP_001362417.1:p.Gly374Ala, NP_001362418.1:p.Gly373Ala, NP_001362445.1:p.Gly316Ala, NP_001362444.1:p.Gly316Ala, NP_001362446.1:p.Gly316Ala, NP_001362452.1:p.Gly230Ala, NP_001362451.1:p.Gly230Ala, NP_001362419.1:p.Gly324Ala, NP_001362420.1:p.Gly323Ala, NP_001362454.1:p.Gly230Ala, NP_001362448.1:p.Gly232Ala, NP_001362449.1:p.Gly231Ala, XP_006714228.1:p.Gly191Ala, XP_011530098.1:p.Gly316Ala, XP_016863437.1:p.Gly316Ala, XP_016863442.1:p.Gly191Ala, XP_006714220.1:p.Gly343Ala, XP_006714221.1:p.Gly342Ala, XP_016863432.1:p.Gly342Ala, XP_047305905.1:p.Gly316Ala, XP_047305908.1:p.Gly316Ala, XP_047305907.1:p.Gly316Ala, XP_047305909.1:p.Gly316Ala, XP_047305910.1:p.Gly316Ala

        4.

        rs1486384966 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          4:153295934 (GRCh38)
          4:154217086 (GRCh37)
          Canonical SPDI:
          NC_000004.12:153295933:A:T
          Gene:
          TRIM2 (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000004.12:g.153295934A>T, NC_000004.11:g.154217086A>T, NG_041788.1:g.147817A>T, NM_015271.5:c.1408A>T, NM_015271.4:c.1408A>T, NM_015271.3:c.1408A>T, NM_001351056.2:c.1327A>T, NM_001351056.1:c.1327A>T, NM_001351054.2:c.1381A>T, NM_001351054.1:c.1381A>T, NM_001351055.2:c.1378A>T, NM_001351055.1:c.1378A>T, NM_001351057.2:c.952A>T, NM_001351057.1:c.952A>T, NM_001130067.2:c.1327A>T, NM_001130067.1:c.1327A>T, NM_001375512.1:c.1327A>T, NM_001375514.1:c.1327A>T, NM_001375513.1:c.1327A>T, NM_001375488.1:c.1501A>T, NM_001375489.1:c.1498A>T, NM_001375516.1:c.1327A>T, NM_001375515.1:c.1327A>T, NM_001375517.1:c.1327A>T, NM_001375523.1:c.1069A>T, NM_001375522.1:c.1069A>T, NM_001375490.1:c.1351A>T, NM_001375491.1:c.1348A>T, NM_001375525.1:c.1069A>T, NM_001375519.1:c.1075A>T, NM_001375520.1:c.1072A>T, XM_006714165.4:c.952A>T, XM_006714165.3:c.952A>T, XM_006714165.2:c.952A>T, XM_006714165.1:c.952A>T, XM_011531796.4:c.1327A>T, XM_011531796.3:c.1327A>T, XM_011531796.2:c.1327A>T, XM_011531796.1:c.1327A>T, XM_017007948.3:c.1327A>T, XM_017007948.2:c.1327A>T, XM_017007948.1:c.1327A>T, XM_017007953.3:c.952A>T, XM_017007953.2:c.952A>T, XM_017007953.1:c.952A>T, XM_006714157.2:c.1408A>T, XM_006714157.1:c.1408A>T, XM_006714158.2:c.1405A>T, XM_006714158.1:c.1405A>T, XM_017007943.2:c.1405A>T, XM_017007943.1:c.1405A>T, XM_047449949.1:c.1327A>T, XM_047449952.1:c.1327A>T, XM_047449951.1:c.1327A>T, XM_047449953.1:c.1327A>T, XM_047449954.1:c.1327A>T, NP_056086.2:p.Ser470Cys, NP_001337985.1:p.Ser443Cys, NP_001337983.1:p.Ser461Cys, NP_001337984.1:p.Ser460Cys, NP_001337986.1:p.Ser318Cys, NP_001123539.1:p.Ser443Cys, NP_001362441.1:p.Ser443Cys, NP_001362443.1:p.Ser443Cys, NP_001362442.1:p.Ser443Cys, NP_001362417.1:p.Ser501Cys, NP_001362418.1:p.Ser500Cys, NP_001362445.1:p.Ser443Cys, NP_001362444.1:p.Ser443Cys, NP_001362446.1:p.Ser443Cys, NP_001362452.1:p.Ser357Cys, NP_001362451.1:p.Ser357Cys, NP_001362419.1:p.Ser451Cys, NP_001362420.1:p.Ser450Cys, NP_001362454.1:p.Ser357Cys, NP_001362448.1:p.Ser359Cys, NP_001362449.1:p.Ser358Cys, XP_006714228.1:p.Ser318Cys, XP_011530098.1:p.Ser443Cys, XP_016863437.1:p.Ser443Cys, XP_016863442.1:p.Ser318Cys, XP_006714220.1:p.Ser470Cys, XP_006714221.1:p.Ser469Cys, XP_016863432.1:p.Ser469Cys, XP_047305905.1:p.Ser443Cys, XP_047305908.1:p.Ser443Cys, XP_047305907.1:p.Ser443Cys, XP_047305909.1:p.Ser443Cys, XP_047305910.1:p.Ser443Cys

          5.

          rs1486135390 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            4:153292990 (GRCh38)
            4:154214142 (GRCh37)
            Canonical SPDI:
            NC_000004.12:153292989:A:G
            Gene:
            TRIM2 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000004.12:g.153292990A>G, NC_000004.11:g.154214142A>G, NG_041788.1:g.144873A>G, NM_015271.5:c.462A>G, NM_015271.4:c.462A>G, NM_015271.3:c.462A>G, NM_001351056.2:c.381A>G, NM_001351056.1:c.381A>G, NM_001351054.2:c.435A>G, NM_001351054.1:c.435A>G, NM_001351055.2:c.432A>G, NM_001351055.1:c.432A>G, NM_001351057.2:c.6A>G, NM_001351057.1:c.6A>G, NM_001130067.2:c.381A>G, NM_001130067.1:c.381A>G, NM_001375512.1:c.381A>G, NM_001375514.1:c.381A>G, NM_001375513.1:c.381A>G, NM_001375488.1:c.555A>G, NM_001375489.1:c.552A>G, NM_001375516.1:c.381A>G, NM_001375515.1:c.381A>G, NM_001375517.1:c.381A>G, NM_001375523.1:c.123A>G, NM_001375522.1:c.123A>G, NM_001375490.1:c.462A>G, NM_001375491.1:c.459A>G, NM_001375525.1:c.123A>G, XM_006714165.4:c.6A>G, XM_006714165.3:c.6A>G, XM_006714165.2:c.6A>G, XM_006714165.1:c.6A>G, XM_011531796.4:c.381A>G, XM_011531796.3:c.381A>G, XM_011531796.2:c.381A>G, XM_011531796.1:c.381A>G, XM_017007948.3:c.381A>G, XM_017007948.2:c.381A>G, XM_017007948.1:c.381A>G, XM_017007953.3:c.6A>G, XM_017007953.2:c.6A>G, XM_017007953.1:c.6A>G, XM_006714157.2:c.462A>G, XM_006714157.1:c.462A>G, XM_006714158.2:c.459A>G, XM_006714158.1:c.459A>G, XM_017007943.2:c.459A>G, XM_017007943.1:c.459A>G, XM_047449949.1:c.381A>G, XM_047449952.1:c.381A>G, XM_047449951.1:c.381A>G, XM_047449953.1:c.381A>G, XM_047449954.1:c.381A>G

            6.

            rs1484082269 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              4:153322812 (GRCh38)
              4:154243964 (GRCh37)
              Canonical SPDI:
              NC_000004.12:153322811:T:C,NC_000004.12:153322811:T:G
              Gene:
              TRIM2 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000004.12:g.153322812T>C, NC_000004.12:g.153322812T>G, NC_000004.11:g.154243964T>C, NC_000004.11:g.154243964T>G, NG_041788.1:g.174695T>C, NG_041788.1:g.174695T>G, NM_015271.5:c.1947T>C, NM_015271.5:c.1947T>G, NM_015271.4:c.1947T>C, NM_015271.4:c.1947T>G, NM_015271.3:c.1947T>C, NM_015271.3:c.1947T>G, NM_001351056.2:c.1866T>C, NM_001351056.2:c.1866T>G, NM_001351056.1:c.1866T>C, NM_001351056.1:c.1866T>G, NM_001351054.2:c.1920T>C, NM_001351054.2:c.1920T>G, NM_001351054.1:c.1920T>C, NM_001351054.1:c.1920T>G, NM_001351055.2:c.1917T>C, NM_001351055.2:c.1917T>G, NM_001351055.1:c.1917T>C, NM_001351055.1:c.1917T>G, NM_001351057.2:c.1491T>C, NM_001351057.2:c.1491T>G, NM_001351057.1:c.1491T>C, NM_001351057.1:c.1491T>G, NM_001130067.2:c.1866T>C, NM_001130067.2:c.1866T>G, NM_001130067.1:c.1866T>C, NM_001130067.1:c.1866T>G, NM_001375512.1:c.1866T>C, NM_001375512.1:c.1866T>G, NM_001375514.1:c.1866T>C, NM_001375514.1:c.1866T>G, NM_001375513.1:c.1866T>C, NM_001375513.1:c.1866T>G, NM_001375488.1:c.2040T>C, NM_001375488.1:c.2040T>G, NM_001375489.1:c.2037T>C, NM_001375489.1:c.2037T>G, NM_001375516.1:c.1866T>C, NM_001375516.1:c.1866T>G, NM_001375515.1:c.1866T>C, NM_001375515.1:c.1866T>G, NM_001375517.1:c.1866T>C, NM_001375517.1:c.1866T>G, NM_001375523.1:c.1608T>C, NM_001375523.1:c.1608T>G, NM_001375522.1:c.1608T>C, NM_001375522.1:c.1608T>G, NM_001375490.1:c.1890T>C, NM_001375490.1:c.1890T>G, NM_001375491.1:c.1887T>C, NM_001375491.1:c.1887T>G, NM_001375525.1:c.1608T>C, NM_001375525.1:c.1608T>G, NM_001375519.1:c.1614T>C, NM_001375519.1:c.1614T>G, NM_001375520.1:c.1611T>C, NM_001375520.1:c.1611T>G, XM_006714165.4:c.1491T>C, XM_006714165.4:c.1491T>G, XM_006714165.3:c.1491T>C, XM_006714165.3:c.1491T>G, XM_006714165.2:c.1491T>C, XM_006714165.2:c.1491T>G, XM_006714165.1:c.1491T>C, XM_006714165.1:c.1491T>G, XM_011531796.4:c.1866T>C, XM_011531796.4:c.1866T>G, XM_011531796.3:c.1866T>C, XM_011531796.3:c.1866T>G, XM_011531796.2:c.1866T>C, XM_011531796.2:c.1866T>G, XM_011531796.1:c.1866T>C, XM_011531796.1:c.1866T>G, XM_017007948.3:c.1866T>C, XM_017007948.3:c.1866T>G, XM_017007948.2:c.1866T>C, XM_017007948.2:c.1866T>G, XM_017007948.1:c.1866T>C, XM_017007948.1:c.1866T>G, XM_017007953.3:c.1491T>C, XM_017007953.3:c.1491T>G, XM_017007953.2:c.1491T>C, XM_017007953.2:c.1491T>G, XM_017007953.1:c.1491T>C, XM_017007953.1:c.1491T>G, XM_006714157.2:c.1947T>C, XM_006714157.2:c.1947T>G, XM_006714157.1:c.1947T>C, XM_006714157.1:c.1947T>G, XM_006714158.2:c.1944T>C, XM_006714158.2:c.1944T>G, XM_006714158.1:c.1944T>C, XM_006714158.1:c.1944T>G, XM_017007943.2:c.1944T>C, XM_017007943.2:c.1944T>G, XM_017007943.1:c.1944T>C, XM_017007943.1:c.1944T>G, XM_047449949.1:c.1866T>C, XM_047449949.1:c.1866T>G, XM_047449952.1:c.1866T>C, XM_047449952.1:c.1866T>G, XM_047449951.1:c.1866T>C, XM_047449951.1:c.1866T>G, XM_047449953.1:c.1866T>C, XM_047449953.1:c.1866T>G, XM_047449954.1:c.1866T>C, XM_047449954.1:c.1866T>G, NP_056086.2:p.Phe649Leu, NP_001337985.1:p.Phe622Leu, NP_001337983.1:p.Phe640Leu, NP_001337984.1:p.Phe639Leu, NP_001337986.1:p.Phe497Leu, NP_001123539.1:p.Phe622Leu, NP_001362441.1:p.Phe622Leu, NP_001362443.1:p.Phe622Leu, NP_001362442.1:p.Phe622Leu, NP_001362417.1:p.Phe680Leu, NP_001362418.1:p.Phe679Leu, NP_001362445.1:p.Phe622Leu, NP_001362444.1:p.Phe622Leu, NP_001362446.1:p.Phe622Leu, NP_001362452.1:p.Phe536Leu, NP_001362451.1:p.Phe536Leu, NP_001362419.1:p.Phe630Leu, NP_001362420.1:p.Phe629Leu, NP_001362454.1:p.Phe536Leu, NP_001362448.1:p.Phe538Leu, NP_001362449.1:p.Phe537Leu, XP_006714228.1:p.Phe497Leu, XP_011530098.1:p.Phe622Leu, XP_016863437.1:p.Phe622Leu, XP_016863442.1:p.Phe497Leu, XP_006714220.1:p.Phe649Leu, XP_006714221.1:p.Phe648Leu, XP_016863432.1:p.Phe648Leu, XP_047305905.1:p.Phe622Leu, XP_047305908.1:p.Phe622Leu, XP_047305907.1:p.Phe622Leu, XP_047305909.1:p.Phe622Leu, XP_047305910.1:p.Phe622Leu

              7.

              rs1482834182 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                4:153334877 (GRCh38)
                4:154256029 (GRCh37)
                Canonical SPDI:
                NC_000004.12:153334876:C:A,NC_000004.12:153334876:C:T
                Gene:
                TRIM2 (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000004.12:g.153334877C>A, NC_000004.12:g.153334877C>T, NC_000004.11:g.154256029C>A, NC_000004.11:g.154256029C>T, NG_041788.1:g.186760C>A, NG_041788.1:g.186760C>T, NM_015271.5:c.2227C>A, NM_015271.5:c.2227C>T, NM_015271.4:c.2227C>A, NM_015271.4:c.2227C>T, NM_015271.3:c.2227C>A, NM_015271.3:c.2227C>T, NM_001351056.2:c.2158C>A, NM_001351056.2:c.2158C>T, NM_001351056.1:c.2158C>A, NM_001351056.1:c.2158C>T, NM_001351054.2:c.2212C>A, NM_001351054.2:c.2212C>T, NM_001351054.1:c.2212C>A, NM_001351054.1:c.2212C>T, NM_001351055.2:c.2209C>A, NM_001351055.2:c.2209C>T, NM_001351055.1:c.2209C>A, NM_001351055.1:c.2209C>T, NM_001351057.2:c.1771C>A, NM_001351057.2:c.1771C>T, NM_001351057.1:c.1771C>A, NM_001351057.1:c.1771C>T, NM_001130067.2:c.2146C>A, NM_001130067.2:c.2146C>T, NM_001130067.1:c.2146C>A, NM_001130067.1:c.2146C>T, NM_001375512.1:c.2146C>A, NM_001375512.1:c.2146C>T, NM_001375514.1:c.2146C>A, NM_001375514.1:c.2146C>T, NM_001375513.1:c.2146C>A, NM_001375513.1:c.2146C>T, NM_001375488.1:c.2320C>A, NM_001375488.1:c.2320C>T, NM_001375489.1:c.2317C>A, NM_001375489.1:c.2317C>T, NM_001375516.1:c.2146C>A, NM_001375516.1:c.2146C>T, NM_001375515.1:c.2146C>A, NM_001375515.1:c.2146C>T, NM_001375517.1:c.2146C>A, NM_001375517.1:c.2146C>T, NM_001375523.1:c.1888C>A, NM_001375523.1:c.1888C>T, NM_001375522.1:c.1888C>A, NM_001375522.1:c.1888C>T, NM_001375490.1:c.2170C>A, NM_001375490.1:c.2170C>T, NM_001375491.1:c.2167C>A, NM_001375491.1:c.2167C>T, NM_001375525.1:c.1888C>A, NM_001375525.1:c.1888C>T, NM_001375519.1:c.1894C>A, NM_001375519.1:c.1894C>T, NM_001375520.1:c.1891C>A, NM_001375520.1:c.1891C>T, XM_006714165.4:c.1783C>A, XM_006714165.4:c.1783C>T, XM_006714165.3:c.1783C>A, XM_006714165.3:c.1783C>T, XM_006714165.2:c.1783C>A, XM_006714165.2:c.1783C>T, XM_006714165.1:c.1783C>A, XM_006714165.1:c.1783C>T, XM_011531796.4:c.2158C>A, XM_011531796.4:c.2158C>T, XM_011531796.3:c.2158C>A, XM_011531796.3:c.2158C>T, XM_011531796.2:c.2158C>A, XM_011531796.2:c.2158C>T, XM_011531796.1:c.2158C>A, XM_011531796.1:c.2158C>T, XM_017007948.3:c.2146C>A, XM_017007948.3:c.2146C>T, XM_017007948.2:c.2146C>A, XM_017007948.2:c.2146C>T, XM_017007948.1:c.2146C>A, XM_017007948.1:c.2146C>T, XM_017007953.3:c.1783C>A, XM_017007953.3:c.1783C>T, XM_017007953.2:c.1783C>A, XM_017007953.2:c.1783C>T, XM_017007953.1:c.1783C>A, XM_017007953.1:c.1783C>T, XM_006714157.2:c.2239C>A, XM_006714157.2:c.2239C>T, XM_006714157.1:c.2239C>A, XM_006714157.1:c.2239C>T, XM_006714158.2:c.2236C>A, XM_006714158.2:c.2236C>T, XM_006714158.1:c.2236C>A, XM_006714158.1:c.2236C>T, XM_017007943.2:c.2224C>A, XM_017007943.2:c.2224C>T, XM_017007943.1:c.2224C>A, XM_017007943.1:c.2224C>T, XM_047449949.1:c.2158C>A, XM_047449949.1:c.2158C>T, XM_047449952.1:c.2158C>A, XM_047449952.1:c.2158C>T, XM_047449951.1:c.2158C>A, XM_047449951.1:c.2158C>T, XM_047449953.1:c.2158C>A, XM_047449953.1:c.2158C>T, XM_047449954.1:c.2158C>A, XM_047449954.1:c.2158C>T, NP_056086.2:p.Pro743Thr, NP_056086.2:p.Pro743Ser, NP_001337985.1:p.Pro720Thr, NP_001337985.1:p.Pro720Ser, NP_001337983.1:p.Pro738Thr, NP_001337983.1:p.Pro738Ser, NP_001337984.1:p.Pro737Thr, NP_001337984.1:p.Pro737Ser, NP_001337986.1:p.Pro591Thr, NP_001337986.1:p.Pro591Ser, NP_001123539.1:p.Pro716Thr, NP_001123539.1:p.Pro716Ser, NP_001362441.1:p.Pro716Thr, NP_001362441.1:p.Pro716Ser, NP_001362443.1:p.Pro716Thr, NP_001362443.1:p.Pro716Ser, NP_001362442.1:p.Pro716Thr, NP_001362442.1:p.Pro716Ser, NP_001362417.1:p.Pro774Thr, NP_001362417.1:p.Pro774Ser, NP_001362418.1:p.Pro773Thr, NP_001362418.1:p.Pro773Ser, NP_001362445.1:p.Pro716Thr, NP_001362445.1:p.Pro716Ser, NP_001362444.1:p.Pro716Thr, NP_001362444.1:p.Pro716Ser, NP_001362446.1:p.Pro716Thr, NP_001362446.1:p.Pro716Ser, NP_001362452.1:p.Pro630Thr, NP_001362452.1:p.Pro630Ser, NP_001362451.1:p.Pro630Thr, NP_001362451.1:p.Pro630Ser, NP_001362419.1:p.Pro724Thr, NP_001362419.1:p.Pro724Ser, NP_001362420.1:p.Pro723Thr, NP_001362420.1:p.Pro723Ser, NP_001362454.1:p.Pro630Thr, NP_001362454.1:p.Pro630Ser, NP_001362448.1:p.Pro632Thr, NP_001362448.1:p.Pro632Ser, NP_001362449.1:p.Pro631Thr, NP_001362449.1:p.Pro631Ser, XP_006714228.1:p.Pro595Thr, XP_006714228.1:p.Pro595Ser, XP_011530098.1:p.Pro720Thr, XP_011530098.1:p.Pro720Ser, XP_016863437.1:p.Pro716Thr, XP_016863437.1:p.Pro716Ser, XP_016863442.1:p.Pro595Thr, XP_016863442.1:p.Pro595Ser, XP_006714220.1:p.Pro747Thr, XP_006714220.1:p.Pro747Ser, XP_006714221.1:p.Pro746Thr, XP_006714221.1:p.Pro746Ser, XP_016863432.1:p.Pro742Thr, XP_016863432.1:p.Pro742Ser, XP_047305905.1:p.Pro720Thr, XP_047305905.1:p.Pro720Ser, XP_047305908.1:p.Pro720Thr, XP_047305908.1:p.Pro720Ser, XP_047305907.1:p.Pro720Thr, XP_047305907.1:p.Pro720Ser, XP_047305909.1:p.Pro720Thr, XP_047305909.1:p.Pro720Ser, XP_047305910.1:p.Pro720Thr, XP_047305910.1:p.Pro720Ser

                8.

                rs1482804476 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  4:153324099 (GRCh38)
                  4:154245251 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:153324098:A:C
                  Gene:
                  TRIM2 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000004.12:g.153324099A>C, NC_000004.11:g.154245251A>C, NG_041788.1:g.175982A>C, NM_015271.5:c.1973A>C, NM_015271.4:c.1973A>C, NM_015271.3:c.1973A>C, NM_001351056.2:c.1904A>C, NM_001351056.1:c.1904A>C, NM_001351054.2:c.1958A>C, NM_001351054.1:c.1958A>C, NM_001351055.2:c.1955A>C, NM_001351055.1:c.1955A>C, NM_001351057.2:c.1517A>C, NM_001351057.1:c.1517A>C, NM_001130067.2:c.1892A>C, NM_001130067.1:c.1892A>C, NM_001375512.1:c.1892A>C, NM_001375514.1:c.1892A>C, NM_001375513.1:c.1892A>C, NM_001375488.1:c.2066A>C, NM_001375489.1:c.2063A>C, NM_001375516.1:c.1892A>C, NM_001375515.1:c.1892A>C, NM_001375517.1:c.1892A>C, NM_001375523.1:c.1634A>C, NM_001375522.1:c.1634A>C, NM_001375490.1:c.1916A>C, NM_001375491.1:c.1913A>C, NM_001375525.1:c.1634A>C, NM_001375519.1:c.1640A>C, NM_001375520.1:c.1637A>C, XM_006714165.4:c.1529A>C, XM_006714165.3:c.1529A>C, XM_006714165.2:c.1529A>C, XM_006714165.1:c.1529A>C, XM_011531796.4:c.1904A>C, XM_011531796.3:c.1904A>C, XM_011531796.2:c.1904A>C, XM_011531796.1:c.1904A>C, XM_017007948.3:c.1892A>C, XM_017007948.2:c.1892A>C, XM_017007948.1:c.1892A>C, XM_017007953.3:c.1529A>C, XM_017007953.2:c.1529A>C, XM_017007953.1:c.1529A>C, XM_006714157.2:c.1985A>C, XM_006714157.1:c.1985A>C, XM_006714158.2:c.1982A>C, XM_006714158.1:c.1982A>C, XM_017007943.2:c.1970A>C, XM_017007943.1:c.1970A>C, XM_047449949.1:c.1904A>C, XM_047449952.1:c.1904A>C, XM_047449951.1:c.1904A>C, XM_047449953.1:c.1904A>C, XM_047449954.1:c.1904A>C, NP_056086.2:p.Asn658Thr, NP_001337985.1:p.Asn635Thr, NP_001337983.1:p.Asn653Thr, NP_001337984.1:p.Asn652Thr, NP_001337986.1:p.Asn506Thr, NP_001123539.1:p.Asn631Thr, NP_001362441.1:p.Asn631Thr, NP_001362443.1:p.Asn631Thr, NP_001362442.1:p.Asn631Thr, NP_001362417.1:p.Asn689Thr, NP_001362418.1:p.Asn688Thr, NP_001362445.1:p.Asn631Thr, NP_001362444.1:p.Asn631Thr, NP_001362446.1:p.Asn631Thr, NP_001362452.1:p.Asn545Thr, NP_001362451.1:p.Asn545Thr, NP_001362419.1:p.Asn639Thr, NP_001362420.1:p.Asn638Thr, NP_001362454.1:p.Asn545Thr, NP_001362448.1:p.Asn547Thr, NP_001362449.1:p.Asn546Thr, XP_006714228.1:p.Asn510Thr, XP_011530098.1:p.Asn635Thr, XP_016863437.1:p.Asn631Thr, XP_016863442.1:p.Asn510Thr, XP_006714220.1:p.Asn662Thr, XP_006714221.1:p.Asn661Thr, XP_016863432.1:p.Asn657Thr, XP_047305905.1:p.Asn635Thr, XP_047305908.1:p.Asn635Thr, XP_047305907.1:p.Asn635Thr, XP_047305909.1:p.Asn635Thr, XP_047305910.1:p.Asn635Thr

                  9.

                  rs1482482523 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:153294478 (GRCh38)
                    4:154215630 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:153294477:A:G
                    Gene:
                    TRIM2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.153294478A>G, NC_000004.11:g.154215630A>G, NG_041788.1:g.146361A>G, NM_015271.5:c.779A>G, NM_015271.4:c.779A>G, NM_015271.3:c.779A>G, NM_001351056.2:c.698A>G, NM_001351056.1:c.698A>G, NM_001351054.2:c.752A>G, NM_001351054.1:c.752A>G, NM_001351055.2:c.749A>G, NM_001351055.1:c.749A>G, NM_001351057.2:c.323A>G, NM_001351057.1:c.323A>G, NM_001130067.2:c.698A>G, NM_001130067.1:c.698A>G, NM_001375512.1:c.698A>G, NM_001375514.1:c.698A>G, NM_001375513.1:c.698A>G, NM_001375488.1:c.872A>G, NM_001375489.1:c.869A>G, NM_001375516.1:c.698A>G, NM_001375515.1:c.698A>G, NM_001375517.1:c.698A>G, NM_001375523.1:c.440A>G, NM_001375522.1:c.440A>G, NM_001375525.1:c.440A>G, XM_006714165.4:c.323A>G, XM_006714165.3:c.323A>G, XM_006714165.2:c.323A>G, XM_006714165.1:c.323A>G, XM_011531796.4:c.698A>G, XM_011531796.3:c.698A>G, XM_011531796.2:c.698A>G, XM_011531796.1:c.698A>G, XM_017007948.3:c.698A>G, XM_017007948.2:c.698A>G, XM_017007948.1:c.698A>G, XM_017007953.3:c.323A>G, XM_017007953.2:c.323A>G, XM_017007953.1:c.323A>G, XM_006714157.2:c.779A>G, XM_006714157.1:c.779A>G, XM_006714158.2:c.776A>G, XM_006714158.1:c.776A>G, XM_017007943.2:c.776A>G, XM_017007943.1:c.776A>G, XM_047449949.1:c.698A>G, XM_047449952.1:c.698A>G, XM_047449951.1:c.698A>G, XM_047449953.1:c.698A>G, XM_047449954.1:c.698A>G, NP_056086.2:p.Lys260Arg, NP_001337985.1:p.Lys233Arg, NP_001337983.1:p.Lys251Arg, NP_001337984.1:p.Lys250Arg, NP_001337986.1:p.Lys108Arg, NP_001123539.1:p.Lys233Arg, NP_001362441.1:p.Lys233Arg, NP_001362443.1:p.Lys233Arg, NP_001362442.1:p.Lys233Arg, NP_001362417.1:p.Lys291Arg, NP_001362418.1:p.Lys290Arg, NP_001362445.1:p.Lys233Arg, NP_001362444.1:p.Lys233Arg, NP_001362446.1:p.Lys233Arg, NP_001362452.1:p.Lys147Arg, NP_001362451.1:p.Lys147Arg, NP_001362454.1:p.Lys147Arg, XP_006714228.1:p.Lys108Arg, XP_011530098.1:p.Lys233Arg, XP_016863437.1:p.Lys233Arg, XP_016863442.1:p.Lys108Arg, XP_006714220.1:p.Lys260Arg, XP_006714221.1:p.Lys259Arg, XP_016863432.1:p.Lys259Arg, XP_047305905.1:p.Lys233Arg, XP_047305908.1:p.Lys233Arg, XP_047305907.1:p.Lys233Arg, XP_047305909.1:p.Lys233Arg, XP_047305910.1:p.Lys233Arg

                    10.

                    rs1476669676 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      4:153295324 (GRCh38)
                      4:154216476 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:153295323:G:A,NC_000004.12:153295323:G:T
                      Gene:
                      TRIM2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000004.12:g.153295324G>A, NC_000004.12:g.153295324G>T, NC_000004.11:g.154216476G>A, NC_000004.11:g.154216476G>T, NG_041788.1:g.147207G>A, NG_041788.1:g.147207G>T, NM_015271.5:c.798G>A, NM_015271.5:c.798G>T, NM_015271.4:c.798G>A, NM_015271.4:c.798G>T, NM_015271.3:c.798G>A, NM_015271.3:c.798G>T, NM_001351056.2:c.717G>A, NM_001351056.2:c.717G>T, NM_001351056.1:c.717G>A, NM_001351056.1:c.717G>T, NM_001351054.2:c.771G>A, NM_001351054.2:c.771G>T, NM_001351054.1:c.771G>A, NM_001351054.1:c.771G>T, NM_001351055.2:c.768G>A, NM_001351055.2:c.768G>T, NM_001351055.1:c.768G>A, NM_001351055.1:c.768G>T, NM_001351057.2:c.342G>A, NM_001351057.2:c.342G>T, NM_001351057.1:c.342G>A, NM_001351057.1:c.342G>T, NM_001130067.2:c.717G>A, NM_001130067.2:c.717G>T, NM_001130067.1:c.717G>A, NM_001130067.1:c.717G>T, NM_001375512.1:c.717G>A, NM_001375512.1:c.717G>T, NM_001375514.1:c.717G>A, NM_001375514.1:c.717G>T, NM_001375513.1:c.717G>A, NM_001375513.1:c.717G>T, NM_001375488.1:c.891G>A, NM_001375488.1:c.891G>T, NM_001375489.1:c.888G>A, NM_001375489.1:c.888G>T, NM_001375516.1:c.717G>A, NM_001375516.1:c.717G>T, NM_001375515.1:c.717G>A, NM_001375515.1:c.717G>T, NM_001375517.1:c.717G>A, NM_001375517.1:c.717G>T, NM_001375523.1:c.459G>A, NM_001375523.1:c.459G>T, NM_001375522.1:c.459G>A, NM_001375522.1:c.459G>T, NM_001375490.1:c.741G>A, NM_001375490.1:c.741G>T, NM_001375491.1:c.738G>A, NM_001375491.1:c.738G>T, NM_001375525.1:c.459G>A, NM_001375525.1:c.459G>T, NM_001375519.1:c.465G>A, NM_001375519.1:c.465G>T, NM_001375520.1:c.462G>A, NM_001375520.1:c.462G>T, XM_006714165.4:c.342G>A, XM_006714165.4:c.342G>T, XM_006714165.3:c.342G>A, XM_006714165.3:c.342G>T, XM_006714165.2:c.342G>A, XM_006714165.2:c.342G>T, XM_006714165.1:c.342G>A, XM_006714165.1:c.342G>T, XM_011531796.4:c.717G>A, XM_011531796.4:c.717G>T, XM_011531796.3:c.717G>A, XM_011531796.3:c.717G>T, XM_011531796.2:c.717G>A, XM_011531796.2:c.717G>T, XM_011531796.1:c.717G>A, XM_011531796.1:c.717G>T, XM_017007948.3:c.717G>A, XM_017007948.3:c.717G>T, XM_017007948.2:c.717G>A, XM_017007948.2:c.717G>T, XM_017007948.1:c.717G>A, XM_017007948.1:c.717G>T, XM_017007953.3:c.342G>A, XM_017007953.3:c.342G>T, XM_017007953.2:c.342G>A, XM_017007953.2:c.342G>T, XM_017007953.1:c.342G>A, XM_017007953.1:c.342G>T, XM_006714157.2:c.798G>A, XM_006714157.2:c.798G>T, XM_006714157.1:c.798G>A, XM_006714157.1:c.798G>T, XM_006714158.2:c.795G>A, XM_006714158.2:c.795G>T, XM_006714158.1:c.795G>A, XM_006714158.1:c.795G>T, XM_017007943.2:c.795G>A, XM_017007943.2:c.795G>T, XM_017007943.1:c.795G>A, XM_017007943.1:c.795G>T, XM_047449949.1:c.717G>A, XM_047449949.1:c.717G>T, XM_047449952.1:c.717G>A, XM_047449952.1:c.717G>T, XM_047449951.1:c.717G>A, XM_047449951.1:c.717G>T, XM_047449953.1:c.717G>A, XM_047449953.1:c.717G>T, XM_047449954.1:c.717G>A, XM_047449954.1:c.717G>T

                      11.

                      rs1472729884 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        4:153334890 (GRCh38)
                        4:154256042 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:153334889:C:T
                        Gene:
                        TRIM2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000004.12:g.153334890C>T, NC_000004.11:g.154256042C>T, NG_041788.1:g.186773C>T, NM_015271.5:c.2240C>T, NM_015271.4:c.2240C>T, NM_015271.3:c.2240C>T, NM_001351056.2:c.2171C>T, NM_001351056.1:c.2171C>T, NM_001351054.2:c.2225C>T, NM_001351054.1:c.2225C>T, NM_001351055.2:c.2222C>T, NM_001351055.1:c.2222C>T, NM_001351057.2:c.1784C>T, NM_001351057.1:c.1784C>T, NM_001130067.2:c.2159C>T, NM_001130067.1:c.2159C>T, NM_001375512.1:c.2159C>T, NM_001375514.1:c.2159C>T, NM_001375513.1:c.2159C>T, NM_001375488.1:c.2333C>T, NM_001375489.1:c.2330C>T, NM_001375516.1:c.2159C>T, NM_001375515.1:c.2159C>T, NM_001375517.1:c.2159C>T, NM_001375523.1:c.1901C>T, NM_001375522.1:c.1901C>T, NM_001375490.1:c.2183C>T, NM_001375491.1:c.2180C>T, NM_001375525.1:c.1901C>T, NM_001375519.1:c.1907C>T, NM_001375520.1:c.1904C>T, XM_006714165.4:c.1796C>T, XM_006714165.3:c.1796C>T, XM_006714165.2:c.1796C>T, XM_006714165.1:c.1796C>T, XM_011531796.4:c.2171C>T, XM_011531796.3:c.2171C>T, XM_011531796.2:c.2171C>T, XM_011531796.1:c.2171C>T, XM_017007948.3:c.2159C>T, XM_017007948.2:c.2159C>T, XM_017007948.1:c.2159C>T, XM_017007953.3:c.1796C>T, XM_017007953.2:c.1796C>T, XM_017007953.1:c.1796C>T, XM_006714157.2:c.2252C>T, XM_006714157.1:c.2252C>T, XM_006714158.2:c.2249C>T, XM_006714158.1:c.2249C>T, XM_017007943.2:c.2237C>T, XM_017007943.1:c.2237C>T, XM_047449949.1:c.2171C>T, XM_047449952.1:c.2171C>T, XM_047449951.1:c.2171C>T, XM_047449953.1:c.2171C>T, XM_047449954.1:c.2171C>T, NP_056086.2:p.Ala747Val, NP_001337985.1:p.Ala724Val, NP_001337983.1:p.Ala742Val, NP_001337984.1:p.Ala741Val, NP_001337986.1:p.Ala595Val, NP_001123539.1:p.Ala720Val, NP_001362441.1:p.Ala720Val, NP_001362443.1:p.Ala720Val, NP_001362442.1:p.Ala720Val, NP_001362417.1:p.Ala778Val, NP_001362418.1:p.Ala777Val, NP_001362445.1:p.Ala720Val, NP_001362444.1:p.Ala720Val, NP_001362446.1:p.Ala720Val, NP_001362452.1:p.Ala634Val, NP_001362451.1:p.Ala634Val, NP_001362419.1:p.Ala728Val, NP_001362420.1:p.Ala727Val, NP_001362454.1:p.Ala634Val, NP_001362448.1:p.Ala636Val, NP_001362449.1:p.Ala635Val, XP_006714228.1:p.Ala599Val, XP_011530098.1:p.Ala724Val, XP_016863437.1:p.Ala720Val, XP_016863442.1:p.Ala599Val, XP_006714220.1:p.Ala751Val, XP_006714221.1:p.Ala750Val, XP_016863432.1:p.Ala746Val, XP_047305905.1:p.Ala724Val, XP_047305908.1:p.Ala724Val, XP_047305907.1:p.Ala724Val, XP_047305909.1:p.Ala724Val, XP_047305910.1:p.Ala724Val

                        12.

                        rs1470965446 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,G [Show Flanks]
                          Chromosome:
                          4:153295977 (GRCh38)
                          4:154217129 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:153295976:T:A,NC_000004.12:153295976:T:G
                          Gene:
                          TRIM2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000214/3 (ALFA)
                          A=0.000014/2 (GnomAD)
                          A=0.000019/5 (TOPMED)
                          HGVS:
                          NC_000004.12:g.153295977T>A, NC_000004.12:g.153295977T>G, NC_000004.11:g.154217129T>A, NC_000004.11:g.154217129T>G, NG_041788.1:g.147860T>A, NG_041788.1:g.147860T>G, NM_015271.5:c.1451T>A, NM_015271.5:c.1451T>G, NM_015271.4:c.1451T>A, NM_015271.4:c.1451T>G, NM_015271.3:c.1451T>A, NM_015271.3:c.1451T>G, NM_001351056.2:c.1370T>A, NM_001351056.2:c.1370T>G, NM_001351056.1:c.1370T>A, NM_001351056.1:c.1370T>G, NM_001351054.2:c.1424T>A, NM_001351054.2:c.1424T>G, NM_001351054.1:c.1424T>A, NM_001351054.1:c.1424T>G, NM_001351055.2:c.1421T>A, NM_001351055.2:c.1421T>G, NM_001351055.1:c.1421T>A, NM_001351055.1:c.1421T>G, NM_001351057.2:c.995T>A, NM_001351057.2:c.995T>G, NM_001351057.1:c.995T>A, NM_001351057.1:c.995T>G, NM_001130067.2:c.1370T>A, NM_001130067.2:c.1370T>G, NM_001130067.1:c.1370T>A, NM_001130067.1:c.1370T>G, NM_001375512.1:c.1370T>A, NM_001375512.1:c.1370T>G, NM_001375514.1:c.1370T>A, NM_001375514.1:c.1370T>G, NM_001375513.1:c.1370T>A, NM_001375513.1:c.1370T>G, NM_001375488.1:c.1544T>A, NM_001375488.1:c.1544T>G, NM_001375489.1:c.1541T>A, NM_001375489.1:c.1541T>G, NM_001375516.1:c.1370T>A, NM_001375516.1:c.1370T>G, NM_001375515.1:c.1370T>A, NM_001375515.1:c.1370T>G, NM_001375517.1:c.1370T>A, NM_001375517.1:c.1370T>G, NM_001375523.1:c.1112T>A, NM_001375523.1:c.1112T>G, NM_001375522.1:c.1112T>A, NM_001375522.1:c.1112T>G, NM_001375490.1:c.1394T>A, NM_001375490.1:c.1394T>G, NM_001375491.1:c.1391T>A, NM_001375491.1:c.1391T>G, NM_001375525.1:c.1112T>A, NM_001375525.1:c.1112T>G, NM_001375519.1:c.1118T>A, NM_001375519.1:c.1118T>G, NM_001375520.1:c.1115T>A, NM_001375520.1:c.1115T>G, XM_006714165.4:c.995T>A, XM_006714165.4:c.995T>G, XM_006714165.3:c.995T>A, XM_006714165.3:c.995T>G, XM_006714165.2:c.995T>A, XM_006714165.2:c.995T>G, XM_006714165.1:c.995T>A, XM_006714165.1:c.995T>G, XM_011531796.4:c.1370T>A, XM_011531796.4:c.1370T>G, XM_011531796.3:c.1370T>A, XM_011531796.3:c.1370T>G, XM_011531796.2:c.1370T>A, XM_011531796.2:c.1370T>G, XM_011531796.1:c.1370T>A, XM_011531796.1:c.1370T>G, XM_017007948.3:c.1370T>A, XM_017007948.3:c.1370T>G, XM_017007948.2:c.1370T>A, XM_017007948.2:c.1370T>G, XM_017007948.1:c.1370T>A, XM_017007948.1:c.1370T>G, XM_017007953.3:c.995T>A, XM_017007953.3:c.995T>G, XM_017007953.2:c.995T>A, XM_017007953.2:c.995T>G, XM_017007953.1:c.995T>A, XM_017007953.1:c.995T>G, XM_006714157.2:c.1451T>A, XM_006714157.2:c.1451T>G, XM_006714157.1:c.1451T>A, XM_006714157.1:c.1451T>G, XM_006714158.2:c.1448T>A, XM_006714158.2:c.1448T>G, XM_006714158.1:c.1448T>A, XM_006714158.1:c.1448T>G, XM_017007943.2:c.1448T>A, XM_017007943.2:c.1448T>G, XM_017007943.1:c.1448T>A, XM_017007943.1:c.1448T>G, XM_047449949.1:c.1370T>A, XM_047449949.1:c.1370T>G, XM_047449952.1:c.1370T>A, XM_047449952.1:c.1370T>G, XM_047449951.1:c.1370T>A, XM_047449951.1:c.1370T>G, XM_047449953.1:c.1370T>A, XM_047449953.1:c.1370T>G, XM_047449954.1:c.1370T>A, XM_047449954.1:c.1370T>G, NP_056086.2:p.Met484Lys, NP_056086.2:p.Met484Arg, NP_001337985.1:p.Met457Lys, NP_001337985.1:p.Met457Arg, NP_001337983.1:p.Met475Lys, NP_001337983.1:p.Met475Arg, NP_001337984.1:p.Met474Lys, NP_001337984.1:p.Met474Arg, NP_001337986.1:p.Met332Lys, NP_001337986.1:p.Met332Arg, NP_001123539.1:p.Met457Lys, NP_001123539.1:p.Met457Arg, NP_001362441.1:p.Met457Lys, NP_001362441.1:p.Met457Arg, NP_001362443.1:p.Met457Lys, NP_001362443.1:p.Met457Arg, NP_001362442.1:p.Met457Lys, NP_001362442.1:p.Met457Arg, NP_001362417.1:p.Met515Lys, NP_001362417.1:p.Met515Arg, NP_001362418.1:p.Met514Lys, NP_001362418.1:p.Met514Arg, NP_001362445.1:p.Met457Lys, NP_001362445.1:p.Met457Arg, NP_001362444.1:p.Met457Lys, NP_001362444.1:p.Met457Arg, NP_001362446.1:p.Met457Lys, NP_001362446.1:p.Met457Arg, NP_001362452.1:p.Met371Lys, NP_001362452.1:p.Met371Arg, NP_001362451.1:p.Met371Lys, NP_001362451.1:p.Met371Arg, NP_001362419.1:p.Met465Lys, NP_001362419.1:p.Met465Arg, NP_001362420.1:p.Met464Lys, NP_001362420.1:p.Met464Arg, NP_001362454.1:p.Met371Lys, NP_001362454.1:p.Met371Arg, NP_001362448.1:p.Met373Lys, NP_001362448.1:p.Met373Arg, NP_001362449.1:p.Met372Lys, NP_001362449.1:p.Met372Arg, XP_006714228.1:p.Met332Lys, XP_006714228.1:p.Met332Arg, XP_011530098.1:p.Met457Lys, XP_011530098.1:p.Met457Arg, XP_016863437.1:p.Met457Lys, XP_016863437.1:p.Met457Arg, XP_016863442.1:p.Met332Lys, XP_016863442.1:p.Met332Arg, XP_006714220.1:p.Met484Lys, XP_006714220.1:p.Met484Arg, XP_006714221.1:p.Met483Lys, XP_006714221.1:p.Met483Arg, XP_016863432.1:p.Met483Lys, XP_016863432.1:p.Met483Arg, XP_047305905.1:p.Met457Lys, XP_047305905.1:p.Met457Arg, XP_047305908.1:p.Met457Lys, XP_047305908.1:p.Met457Arg, XP_047305907.1:p.Met457Lys, XP_047305907.1:p.Met457Arg, XP_047305909.1:p.Met457Lys, XP_047305909.1:p.Met457Arg, XP_047305910.1:p.Met457Lys, XP_047305910.1:p.Met457Arg

                          13.

                          rs1463138410 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            A>- [Show Flanks]
                            Chromosome:
                            4:153293129 (GRCh38)
                            4:154214281 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:153293128:AAAA:AAA
                            Gene:
                            TRIM2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.153293132del, NC_000004.11:g.154214284del, NG_041788.1:g.145015del, NM_015271.5:c.604del, NM_015271.4:c.604del, NM_015271.3:c.604del, NM_001351056.2:c.523del, NM_001351056.1:c.523del, NM_001351054.2:c.577del, NM_001351054.1:c.577del, NM_001351055.2:c.574del, NM_001351055.1:c.574del, NM_001351057.2:c.148del, NM_001351057.1:c.148del, NM_001130067.2:c.523del, NM_001130067.1:c.523del, NM_001375512.1:c.523del, NM_001375514.1:c.523del, NM_001375513.1:c.523del, NM_001375488.1:c.697del, NM_001375489.1:c.694del, NM_001375516.1:c.523del, NM_001375515.1:c.523del, NM_001375517.1:c.523del, NM_001375523.1:c.265del, NM_001375522.1:c.265del, NM_001375490.1:c.604del, NM_001375491.1:c.601del, NM_001375525.1:c.265del, XM_006714165.4:c.148del, XM_006714165.3:c.148del, XM_006714165.2:c.148del, XM_006714165.1:c.148del, XM_011531796.4:c.523del, XM_011531796.3:c.523del, XM_011531796.2:c.523del, XM_011531796.1:c.523del, XM_017007948.3:c.523del, XM_017007948.2:c.523del, XM_017007948.1:c.523del, XM_017007953.3:c.148del, XM_017007953.2:c.148del, XM_017007953.1:c.148del, XM_006714157.2:c.604del, XM_006714157.1:c.604del, XM_006714158.2:c.601del, XM_006714158.1:c.601del, XM_017007943.2:c.601del, XM_017007943.1:c.601del, XM_047449949.1:c.523del, XM_047449952.1:c.523del, XM_047449951.1:c.523del, XM_047449953.1:c.523del, XM_047449954.1:c.523del, NP_056086.2:p.Arg202fs, NP_001337985.1:p.Arg175fs, NP_001337983.1:p.Arg193fs, NP_001337984.1:p.Arg192fs, NP_001337986.1:p.Arg50fs, NP_001123539.1:p.Arg175fs, NP_001362441.1:p.Arg175fs, NP_001362443.1:p.Arg175fs, NP_001362442.1:p.Arg175fs, NP_001362417.1:p.Arg233fs, NP_001362418.1:p.Arg232fs, NP_001362445.1:p.Arg175fs, NP_001362444.1:p.Arg175fs, NP_001362446.1:p.Arg175fs, NP_001362452.1:p.Arg89fs, NP_001362451.1:p.Arg89fs, NP_001362419.1:p.Arg202fs, NP_001362420.1:p.Arg201fs, NP_001362454.1:p.Arg89fs, XP_006714228.1:p.Arg50fs, XP_011530098.1:p.Arg175fs, XP_016863437.1:p.Arg175fs, XP_016863442.1:p.Arg50fs, XP_006714220.1:p.Arg202fs, XP_006714221.1:p.Arg201fs, XP_016863432.1:p.Arg201fs, XP_047305905.1:p.Arg175fs, XP_047305908.1:p.Arg175fs, XP_047305907.1:p.Arg175fs, XP_047305909.1:p.Arg175fs, XP_047305910.1:p.Arg175fs

                            14.

                            rs1459764914 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              4:153295771 (GRCh38)
                              4:154216923 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:153295770:C:A
                              Gene:
                              TRIM2 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.153295771C>A, NC_000004.11:g.154216923C>A, NG_041788.1:g.147654C>A, NM_015271.5:c.1245C>A, NM_015271.4:c.1245C>A, NM_015271.3:c.1245C>A, NM_001351056.2:c.1164C>A, NM_001351056.1:c.1164C>A, NM_001351054.2:c.1218C>A, NM_001351054.1:c.1218C>A, NM_001351055.2:c.1215C>A, NM_001351055.1:c.1215C>A, NM_001351057.2:c.789C>A, NM_001351057.1:c.789C>A, NM_001130067.2:c.1164C>A, NM_001130067.1:c.1164C>A, NM_001375512.1:c.1164C>A, NM_001375514.1:c.1164C>A, NM_001375513.1:c.1164C>A, NM_001375488.1:c.1338C>A, NM_001375489.1:c.1335C>A, NM_001375516.1:c.1164C>A, NM_001375515.1:c.1164C>A, NM_001375517.1:c.1164C>A, NM_001375523.1:c.906C>A, NM_001375522.1:c.906C>A, NM_001375490.1:c.1188C>A, NM_001375491.1:c.1185C>A, NM_001375525.1:c.906C>A, NM_001375519.1:c.912C>A, NM_001375520.1:c.909C>A, XM_006714165.4:c.789C>A, XM_006714165.3:c.789C>A, XM_006714165.2:c.789C>A, XM_006714165.1:c.789C>A, XM_011531796.4:c.1164C>A, XM_011531796.3:c.1164C>A, XM_011531796.2:c.1164C>A, XM_011531796.1:c.1164C>A, XM_017007948.3:c.1164C>A, XM_017007948.2:c.1164C>A, XM_017007948.1:c.1164C>A, XM_017007953.3:c.789C>A, XM_017007953.2:c.789C>A, XM_017007953.1:c.789C>A, XM_006714157.2:c.1245C>A, XM_006714157.1:c.1245C>A, XM_006714158.2:c.1242C>A, XM_006714158.1:c.1242C>A, XM_017007943.2:c.1242C>A, XM_017007943.1:c.1242C>A, XM_047449949.1:c.1164C>A, XM_047449952.1:c.1164C>A, XM_047449951.1:c.1164C>A, XM_047449953.1:c.1164C>A, XM_047449954.1:c.1164C>A

                              15.

                              rs1454838419 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                4:153276051 (GRCh38)
                                4:154197203 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:153276050:C:G,NC_000004.12:153276050:C:T
                                Gene:
                                TRIM2 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000004.12:g.153276051C>G, NC_000004.12:g.153276051C>T, NC_000004.11:g.154197203C>G, NC_000004.11:g.154197203C>T, NG_041788.1:g.127934C>G, NG_041788.1:g.127934C>T, NM_015271.5:c.374C>G, NM_015271.5:c.374C>T, NM_015271.4:c.374C>G, NM_015271.4:c.374C>T, NM_015271.3:c.374C>G, NM_015271.3:c.374C>T, NM_001351056.2:c.293C>G, NM_001351056.2:c.293C>T, NM_001351056.1:c.293C>G, NM_001351056.1:c.293C>T, NM_001351054.2:c.347C>G, NM_001351054.2:c.347C>T, NM_001351054.1:c.347C>G, NM_001351054.1:c.347C>T, NM_001351055.2:c.344C>G, NM_001351055.2:c.344C>T, NM_001351055.1:c.344C>G, NM_001351055.1:c.344C>T, NM_001351057.2:c.-184C>G, NM_001351057.2:c.-184C>T, NM_001351057.1:c.-184C>G, NM_001351057.1:c.-184C>T, NM_001130067.2:c.293C>G, NM_001130067.2:c.293C>T, NM_001130067.1:c.293C>G, NM_001130067.1:c.293C>T, NM_001302694.2:c.347C>G, NM_001302694.2:c.347C>T, NM_001302694.1:c.347C>G, NM_001302694.1:c.347C>T, NM_001302692.2:c.374C>G, NM_001302692.2:c.374C>T, NM_001302692.1:c.374C>G, NM_001302692.1:c.374C>T, NM_001302693.2:c.371C>G, NM_001302693.2:c.371C>T, NM_001302693.1:c.371C>G, NM_001302693.1:c.371C>T, NM_001375512.1:c.293C>G, NM_001375512.1:c.293C>T, NM_001375514.1:c.293C>G, NM_001375514.1:c.293C>T, NM_001375513.1:c.293C>G, NM_001375513.1:c.293C>T, NM_001375488.1:c.374C>G, NM_001375488.1:c.374C>T, NM_001375489.1:c.371C>G, NM_001375489.1:c.371C>T, NM_001375516.1:c.293C>G, NM_001375516.1:c.293C>T, NM_001375515.1:c.293C>G, NM_001375515.1:c.293C>T, NM_001375517.1:c.293C>G, NM_001375517.1:c.293C>T, NM_001375523.1:c.35C>G, NM_001375523.1:c.35C>T, NM_001375522.1:c.35C>G, NM_001375522.1:c.35C>T, NM_001375490.1:c.374C>G, NM_001375490.1:c.374C>T, NM_001375491.1:c.371C>G, NM_001375491.1:c.371C>T, NM_001375525.1:c.35C>G, NM_001375525.1:c.35C>T, NM_001375519.1:c.374C>G, NM_001375519.1:c.374C>T, NM_001375520.1:c.371C>G, NM_001375520.1:c.371C>T, XM_011531796.4:c.293C>G, XM_011531796.4:c.293C>T, XM_011531796.3:c.293C>G, XM_011531796.3:c.293C>T, XM_011531796.2:c.293C>G, XM_011531796.2:c.293C>T, XM_011531796.1:c.293C>G, XM_011531796.1:c.293C>T, XM_017007948.3:c.293C>G, XM_017007948.3:c.293C>T, XM_017007948.2:c.293C>G, XM_017007948.2:c.293C>T, XM_017007948.1:c.293C>G, XM_017007948.1:c.293C>T, XM_017007953.3:c.-184C>G, XM_017007953.3:c.-184C>T, XM_006714157.2:c.374C>G, XM_006714157.2:c.374C>T, XM_006714157.1:c.374C>G, XM_006714157.1:c.374C>T, XM_006714158.2:c.371C>G, XM_006714158.2:c.371C>T, XM_006714158.1:c.371C>G, XM_006714158.1:c.371C>T, XM_017007943.2:c.371C>G, XM_017007943.2:c.371C>T, XM_017007943.1:c.371C>G, XM_017007943.1:c.371C>T, XM_047449949.1:c.293C>G, XM_047449949.1:c.293C>T, XM_047449952.1:c.293C>G, XM_047449952.1:c.293C>T, XM_047449951.1:c.293C>G, XM_047449951.1:c.293C>T, XM_047449953.1:c.293C>G, XM_047449953.1:c.293C>T, XM_047449954.1:c.293C>G, XM_047449954.1:c.293C>T, NP_056086.2:p.Ala125Gly, NP_056086.2:p.Ala125Val, NP_001337985.1:p.Ala98Gly, NP_001337985.1:p.Ala98Val, NP_001337983.1:p.Ala116Gly, NP_001337983.1:p.Ala116Val, NP_001337984.1:p.Ala115Gly, NP_001337984.1:p.Ala115Val, NP_001123539.1:p.Ala98Gly, NP_001123539.1:p.Ala98Val, NP_001289623.1:p.Ala116Gly, NP_001289623.1:p.Ala116Val, NP_001289621.1:p.Ala125Gly, NP_001289621.1:p.Ala125Val, NP_001289622.1:p.Ala124Gly, NP_001289622.1:p.Ala124Val, NP_001362441.1:p.Ala98Gly, NP_001362441.1:p.Ala98Val, NP_001362443.1:p.Ala98Gly, NP_001362443.1:p.Ala98Val, NP_001362442.1:p.Ala98Gly, NP_001362442.1:p.Ala98Val, NP_001362417.1:p.Ala125Gly, NP_001362417.1:p.Ala125Val, NP_001362418.1:p.Ala124Gly, NP_001362418.1:p.Ala124Val, NP_001362445.1:p.Ala98Gly, NP_001362445.1:p.Ala98Val, NP_001362444.1:p.Ala98Gly, NP_001362444.1:p.Ala98Val, NP_001362446.1:p.Ala98Gly, NP_001362446.1:p.Ala98Val, NP_001362452.1:p.Ala12Gly, NP_001362452.1:p.Ala12Val, NP_001362451.1:p.Ala12Gly, NP_001362451.1:p.Ala12Val, NP_001362419.1:p.Ala125Gly, NP_001362419.1:p.Ala125Val, NP_001362420.1:p.Ala124Gly, NP_001362420.1:p.Ala124Val, NP_001362454.1:p.Ala12Gly, NP_001362454.1:p.Ala12Val, NP_001362448.1:p.Ala125Gly, NP_001362448.1:p.Ala125Val, NP_001362449.1:p.Ala124Gly, NP_001362449.1:p.Ala124Val, XP_011530098.1:p.Ala98Gly, XP_011530098.1:p.Ala98Val, XP_016863437.1:p.Ala98Gly, XP_016863437.1:p.Ala98Val, XP_006714220.1:p.Ala125Gly, XP_006714220.1:p.Ala125Val, XP_006714221.1:p.Ala124Gly, XP_006714221.1:p.Ala124Val, XP_016863432.1:p.Ala124Gly, XP_016863432.1:p.Ala124Val, XP_047305905.1:p.Ala98Gly, XP_047305905.1:p.Ala98Val, XP_047305908.1:p.Ala98Gly, XP_047305908.1:p.Ala98Val, XP_047305907.1:p.Ala98Gly, XP_047305907.1:p.Ala98Val, XP_047305909.1:p.Ala98Gly, XP_047305909.1:p.Ala98Val, XP_047305910.1:p.Ala98Gly, XP_047305910.1:p.Ala98Val

                                16.

                                rs1454271452 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  4:153328610 (GRCh38)
                                  4:154249762 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:153328609:T:C
                                  Gene:
                                  TRIM2 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000004.12:g.153328610T>C, NC_000004.11:g.154249762T>C, NG_041788.1:g.180493T>C, NM_015271.5:c.2103T>C, NM_015271.4:c.2103T>C, NM_015271.3:c.2103T>C, NM_001351056.2:c.2034T>C, NM_001351056.1:c.2034T>C, NM_001351054.2:c.2088T>C, NM_001351054.1:c.2088T>C, NM_001351055.2:c.2085T>C, NM_001351055.1:c.2085T>C, NM_001351057.2:c.1647T>C, NM_001351057.1:c.1647T>C, NM_001130067.2:c.2022T>C, NM_001130067.1:c.2022T>C, NM_001375512.1:c.2022T>C, NM_001375514.1:c.2022T>C, NM_001375513.1:c.2022T>C, NM_001375488.1:c.2196T>C, NM_001375489.1:c.2193T>C, NM_001375516.1:c.2022T>C, NM_001375515.1:c.2022T>C, NM_001375517.1:c.2022T>C, NM_001375523.1:c.1764T>C, NM_001375522.1:c.1764T>C, NM_001375490.1:c.2046T>C, NM_001375491.1:c.2043T>C, NM_001375525.1:c.1764T>C, NM_001375519.1:c.1770T>C, NM_001375520.1:c.1767T>C, XM_006714165.4:c.1659T>C, XM_006714165.3:c.1659T>C, XM_006714165.2:c.1659T>C, XM_006714165.1:c.1659T>C, XM_011531796.4:c.2034T>C, XM_011531796.3:c.2034T>C, XM_011531796.2:c.2034T>C, XM_011531796.1:c.2034T>C, XM_017007948.3:c.2022T>C, XM_017007948.2:c.2022T>C, XM_017007948.1:c.2022T>C, XM_017007953.3:c.1659T>C, XM_017007953.2:c.1659T>C, XM_017007953.1:c.1659T>C, XM_006714157.2:c.2115T>C, XM_006714157.1:c.2115T>C, XM_006714158.2:c.2112T>C, XM_006714158.1:c.2112T>C, XM_017007943.2:c.2100T>C, XM_017007943.1:c.2100T>C, XM_047449949.1:c.2034T>C, XM_047449952.1:c.2034T>C, XM_047449951.1:c.2034T>C, XM_047449953.1:c.2034T>C, XM_047449954.1:c.2034T>C

                                  17.

                                  rs1454187582 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    4:153270506 (GRCh38)
                                    4:154191658 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:153270505:A:T
                                    Gene:
                                    TRIM2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000031/1 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.153270506A>T, NC_000004.11:g.154191658A>T, NG_041788.1:g.122389A>T, NM_015271.5:c.202A>T, NM_015271.4:c.202A>T, NM_015271.3:c.202A>T, NM_001351056.2:c.121A>T, NM_001351056.1:c.121A>T, NM_001351054.2:c.175A>T, NM_001351054.1:c.175A>T, NM_001351055.2:c.172A>T, NM_001351055.1:c.172A>T, NM_001351057.2:c.-356A>T, NM_001351057.1:c.-356A>T, NM_001130067.2:c.121A>T, NM_001130067.1:c.121A>T, NM_001302694.2:c.175A>T, NM_001302694.1:c.175A>T, NM_001302692.2:c.202A>T, NM_001302692.1:c.202A>T, NM_001302693.2:c.199A>T, NM_001302693.1:c.199A>T, NM_001375512.1:c.121A>T, NM_001375514.1:c.121A>T, NM_001375513.1:c.121A>T, NM_001375488.1:c.202A>T, NM_001375489.1:c.199A>T, NM_001375516.1:c.121A>T, NM_001375515.1:c.121A>T, NM_001375517.1:c.121A>T, NM_001375523.1:c.-88A>T, NM_001375522.1:c.-88A>T, NM_001375490.1:c.202A>T, NM_001375491.1:c.199A>T, NM_001375519.1:c.202A>T, NM_001375520.1:c.199A>T, XM_011531796.4:c.121A>T, XM_011531796.3:c.121A>T, XM_011531796.2:c.121A>T, XM_011531796.1:c.121A>T, XM_017007948.3:c.121A>T, XM_017007948.2:c.121A>T, XM_017007948.1:c.121A>T, XM_006714157.2:c.202A>T, XM_006714157.1:c.202A>T, XM_006714158.2:c.199A>T, XM_006714158.1:c.199A>T, XM_017007943.2:c.199A>T, XM_017007943.1:c.199A>T, XM_047449949.1:c.121A>T, XM_047449952.1:c.121A>T, XM_047449951.1:c.121A>T, XM_047449953.1:c.121A>T, XM_047449954.1:c.121A>T, NP_056086.2:p.Thr68Ser, NP_001337985.1:p.Thr41Ser, NP_001337983.1:p.Thr59Ser, NP_001337984.1:p.Thr58Ser, NP_001123539.1:p.Thr41Ser, NP_001289623.1:p.Thr59Ser, NP_001289621.1:p.Thr68Ser, NP_001289622.1:p.Thr67Ser, NP_001362441.1:p.Thr41Ser, NP_001362443.1:p.Thr41Ser, NP_001362442.1:p.Thr41Ser, NP_001362417.1:p.Thr68Ser, NP_001362418.1:p.Thr67Ser, NP_001362445.1:p.Thr41Ser, NP_001362444.1:p.Thr41Ser, NP_001362446.1:p.Thr41Ser, NP_001362419.1:p.Thr68Ser, NP_001362420.1:p.Thr67Ser, NP_001362448.1:p.Thr68Ser, NP_001362449.1:p.Thr67Ser, XP_011530098.1:p.Thr41Ser, XP_016863437.1:p.Thr41Ser, XP_006714220.1:p.Thr68Ser, XP_006714221.1:p.Thr67Ser, XP_016863432.1:p.Thr67Ser, XP_047305905.1:p.Thr41Ser, XP_047305908.1:p.Thr41Ser, XP_047305907.1:p.Thr41Ser, XP_047305909.1:p.Thr41Ser, XP_047305910.1:p.Thr41Ser

                                    18.

                                    rs1452924822 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      4:153322732 (GRCh38)
                                      4:154243884 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:153322731:G:T
                                      Gene:
                                      TRIM2 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000004.12:g.153322732G>T, NC_000004.11:g.154243884G>T, NG_041788.1:g.174615G>T, NM_015271.5:c.1867G>T, NM_015271.4:c.1867G>T, NM_015271.3:c.1867G>T, NM_001351056.2:c.1786G>T, NM_001351056.1:c.1786G>T, NM_001351054.2:c.1840G>T, NM_001351054.1:c.1840G>T, NM_001351055.2:c.1837G>T, NM_001351055.1:c.1837G>T, NM_001351057.2:c.1411G>T, NM_001351057.1:c.1411G>T, NM_001130067.2:c.1786G>T, NM_001130067.1:c.1786G>T, NM_001375512.1:c.1786G>T, NM_001375514.1:c.1786G>T, NM_001375513.1:c.1786G>T, NM_001375488.1:c.1960G>T, NM_001375489.1:c.1957G>T, NM_001375516.1:c.1786G>T, NM_001375515.1:c.1786G>T, NM_001375517.1:c.1786G>T, NM_001375523.1:c.1528G>T, NM_001375522.1:c.1528G>T, NM_001375490.1:c.1810G>T, NM_001375491.1:c.1807G>T, NM_001375525.1:c.1528G>T, NM_001375519.1:c.1534G>T, NM_001375520.1:c.1531G>T, XM_006714165.4:c.1411G>T, XM_006714165.3:c.1411G>T, XM_006714165.2:c.1411G>T, XM_006714165.1:c.1411G>T, XM_011531796.4:c.1786G>T, XM_011531796.3:c.1786G>T, XM_011531796.2:c.1786G>T, XM_011531796.1:c.1786G>T, XM_017007948.3:c.1786G>T, XM_017007948.2:c.1786G>T, XM_017007948.1:c.1786G>T, XM_017007953.3:c.1411G>T, XM_017007953.2:c.1411G>T, XM_017007953.1:c.1411G>T, XM_006714157.2:c.1867G>T, XM_006714157.1:c.1867G>T, XM_006714158.2:c.1864G>T, XM_006714158.1:c.1864G>T, XM_017007943.2:c.1864G>T, XM_017007943.1:c.1864G>T, XM_047449949.1:c.1786G>T, XM_047449952.1:c.1786G>T, XM_047449951.1:c.1786G>T, XM_047449953.1:c.1786G>T, XM_047449954.1:c.1786G>T, NP_056086.2:p.Ala623Ser, NP_001337985.1:p.Ala596Ser, NP_001337983.1:p.Ala614Ser, NP_001337984.1:p.Ala613Ser, NP_001337986.1:p.Ala471Ser, NP_001123539.1:p.Ala596Ser, NP_001362441.1:p.Ala596Ser, NP_001362443.1:p.Ala596Ser, NP_001362442.1:p.Ala596Ser, NP_001362417.1:p.Ala654Ser, NP_001362418.1:p.Ala653Ser, NP_001362445.1:p.Ala596Ser, NP_001362444.1:p.Ala596Ser, NP_001362446.1:p.Ala596Ser, NP_001362452.1:p.Ala510Ser, NP_001362451.1:p.Ala510Ser, NP_001362419.1:p.Ala604Ser, NP_001362420.1:p.Ala603Ser, NP_001362454.1:p.Ala510Ser, NP_001362448.1:p.Ala512Ser, NP_001362449.1:p.Ala511Ser, XP_006714228.1:p.Ala471Ser, XP_011530098.1:p.Ala596Ser, XP_016863437.1:p.Ala596Ser, XP_016863442.1:p.Ala471Ser, XP_006714220.1:p.Ala623Ser, XP_006714221.1:p.Ala622Ser, XP_016863432.1:p.Ala622Ser, XP_047305905.1:p.Ala596Ser, XP_047305908.1:p.Ala596Ser, XP_047305907.1:p.Ala596Ser, XP_047305909.1:p.Ala596Ser, XP_047305910.1:p.Ala596Ser

                                      19.

                                      rs1452627816 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        4:153295760 (GRCh38)
                                        4:154216912 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:153295759:A:G
                                        Gene:
                                        TRIM2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000004.12:g.153295760A>G, NC_000004.11:g.154216912A>G, NG_041788.1:g.147643A>G, NM_015271.5:c.1234A>G, NM_015271.4:c.1234A>G, NM_015271.3:c.1234A>G, NM_001351056.2:c.1153A>G, NM_001351056.1:c.1153A>G, NM_001351054.2:c.1207A>G, NM_001351054.1:c.1207A>G, NM_001351055.2:c.1204A>G, NM_001351055.1:c.1204A>G, NM_001351057.2:c.778A>G, NM_001351057.1:c.778A>G, NM_001130067.2:c.1153A>G, NM_001130067.1:c.1153A>G, NM_001375512.1:c.1153A>G, NM_001375514.1:c.1153A>G, NM_001375513.1:c.1153A>G, NM_001375488.1:c.1327A>G, NM_001375489.1:c.1324A>G, NM_001375516.1:c.1153A>G, NM_001375515.1:c.1153A>G, NM_001375517.1:c.1153A>G, NM_001375523.1:c.895A>G, NM_001375522.1:c.895A>G, NM_001375490.1:c.1177A>G, NM_001375491.1:c.1174A>G, NM_001375525.1:c.895A>G, NM_001375519.1:c.901A>G, NM_001375520.1:c.898A>G, XM_006714165.4:c.778A>G, XM_006714165.3:c.778A>G, XM_006714165.2:c.778A>G, XM_006714165.1:c.778A>G, XM_011531796.4:c.1153A>G, XM_011531796.3:c.1153A>G, XM_011531796.2:c.1153A>G, XM_011531796.1:c.1153A>G, XM_017007948.3:c.1153A>G, XM_017007948.2:c.1153A>G, XM_017007948.1:c.1153A>G, XM_017007953.3:c.778A>G, XM_017007953.2:c.778A>G, XM_017007953.1:c.778A>G, XM_006714157.2:c.1234A>G, XM_006714157.1:c.1234A>G, XM_006714158.2:c.1231A>G, XM_006714158.1:c.1231A>G, XM_017007943.2:c.1231A>G, XM_017007943.1:c.1231A>G, XM_047449949.1:c.1153A>G, XM_047449952.1:c.1153A>G, XM_047449951.1:c.1153A>G, XM_047449953.1:c.1153A>G, XM_047449954.1:c.1153A>G, NP_056086.2:p.Lys412Glu, NP_001337985.1:p.Lys385Glu, NP_001337983.1:p.Lys403Glu, NP_001337984.1:p.Lys402Glu, NP_001337986.1:p.Lys260Glu, NP_001123539.1:p.Lys385Glu, NP_001362441.1:p.Lys385Glu, NP_001362443.1:p.Lys385Glu, NP_001362442.1:p.Lys385Glu, NP_001362417.1:p.Lys443Glu, NP_001362418.1:p.Lys442Glu, NP_001362445.1:p.Lys385Glu, NP_001362444.1:p.Lys385Glu, NP_001362446.1:p.Lys385Glu, NP_001362452.1:p.Lys299Glu, NP_001362451.1:p.Lys299Glu, NP_001362419.1:p.Lys393Glu, NP_001362420.1:p.Lys392Glu, NP_001362454.1:p.Lys299Glu, NP_001362448.1:p.Lys301Glu, NP_001362449.1:p.Lys300Glu, XP_006714228.1:p.Lys260Glu, XP_011530098.1:p.Lys385Glu, XP_016863437.1:p.Lys385Glu, XP_016863442.1:p.Lys260Glu, XP_006714220.1:p.Lys412Glu, XP_006714221.1:p.Lys411Glu, XP_016863432.1:p.Lys411Glu, XP_047305905.1:p.Lys385Glu, XP_047305908.1:p.Lys385Glu, XP_047305907.1:p.Lys385Glu, XP_047305909.1:p.Lys385Glu, XP_047305910.1:p.Lys385Glu

                                        20.

                                        rs1449311337 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          4:153293116 (GRCh38)
                                          4:154214268 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:153293115:G:T
                                          Gene:
                                          TRIM2 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                                          Clinical significance:
                                          likely-benign
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000004.12:g.153293116G>T, NC_000004.11:g.154214268G>T, NG_041788.1:g.144999G>T, NM_015271.5:c.588G>T, NM_015271.4:c.588G>T, NM_015271.3:c.588G>T, NM_001351056.2:c.507G>T, NM_001351056.1:c.507G>T, NM_001351054.2:c.561G>T, NM_001351054.1:c.561G>T, NM_001351055.2:c.558G>T, NM_001351055.1:c.558G>T, NM_001351057.2:c.132G>T, NM_001351057.1:c.132G>T, NM_001130067.2:c.507G>T, NM_001130067.1:c.507G>T, NM_001375512.1:c.507G>T, NM_001375514.1:c.507G>T, NM_001375513.1:c.507G>T, NM_001375488.1:c.681G>T, NM_001375489.1:c.678G>T, NM_001375516.1:c.507G>T, NM_001375515.1:c.507G>T, NM_001375517.1:c.507G>T, NM_001375523.1:c.249G>T, NM_001375522.1:c.249G>T, NM_001375490.1:c.588G>T, NM_001375491.1:c.585G>T, NM_001375525.1:c.249G>T, XM_006714165.4:c.132G>T, XM_006714165.3:c.132G>T, XM_006714165.2:c.132G>T, XM_006714165.1:c.132G>T, XM_011531796.4:c.507G>T, XM_011531796.3:c.507G>T, XM_011531796.2:c.507G>T, XM_011531796.1:c.507G>T, XM_017007948.3:c.507G>T, XM_017007948.2:c.507G>T, XM_017007948.1:c.507G>T, XM_017007953.3:c.132G>T, XM_017007953.2:c.132G>T, XM_017007953.1:c.132G>T, XM_006714157.2:c.588G>T, XM_006714157.1:c.588G>T, XM_006714158.2:c.585G>T, XM_006714158.1:c.585G>T, XM_017007943.2:c.585G>T, XM_017007943.1:c.585G>T, XM_047449949.1:c.507G>T, XM_047449952.1:c.507G>T, XM_047449951.1:c.507G>T, XM_047449953.1:c.507G>T, XM_047449954.1:c.507G>T

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