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Items: 1 to 20 of 487

1.

rs1489997404 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:171744157 (GRCh38)
    2:172600667 (GRCh37)
    Canonical SPDI:
    NC_000002.12:171744156:T:C
    Gene:
    DYNC1I2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000011/3 (TOPMED)
    C=0.000014/2 (GnomAD)
    HGVS:

    2.

    rs1489591385 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:171707317 (GRCh38)
      2:172563827 (GRCh37)
      Canonical SPDI:
      NC_000002.12:171707316:C:T
      Gene:
      DYNC1I2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000111/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.171707317C>T, NC_000002.11:g.172563827C>T, NW_025791761.1:g.137490C>T, NM_001378.3:c.275C>T, NM_001378.2:c.275C>T, NM_001271785.2:c.275C>T, NM_001271785.1:c.275C>T, NM_001320882.2:c.257C>T, NM_001320882.1:c.257C>T, NM_001271786.2:c.311C>T, NM_001271786.1:c.311C>T, NM_001320883.2:c.257C>T, NM_001320883.1:c.257C>T, NM_001271787.2:c.311C>T, NM_001271787.1:c.311C>T, NM_001271788.2:c.257C>T, NM_001271788.1:c.257C>T, NM_001271790.2:c.257C>T, NM_001271790.1:c.257C>T, NM_001271789.2:c.257C>T, NM_001271789.1:c.257C>T, NM_001320884.2:c.257C>T, NM_001320884.1:c.257C>T, NM_001378455.1:c.257C>T, NM_001378456.1:c.257C>T, NP_001369.1:p.Ser92Phe, NP_001258714.1:p.Ser92Phe, NP_001307811.1:p.Ser86Phe, NP_001258715.1:p.Ser104Phe, NP_001307812.1:p.Ser86Phe, NP_001258716.1:p.Ser104Phe, NP_001258717.1:p.Ser86Phe, NP_001258719.1:p.Ser86Phe, NP_001258718.1:p.Ser86Phe, NP_001307813.1:p.Ser86Phe, NP_001365384.1:p.Ser86Phe, NP_001365385.1:p.Ser86Phe

      3.

      rs1487735645 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        2:171715356 (GRCh38)
        2:172571866 (GRCh37)
        Canonical SPDI:
        NC_000002.12:171715355:A:G
        Gene:
        DYNC1I2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000006/1 (GnomAD_exomes)
        G=0.000008/2 (TOPMED)
        HGVS:
        NC_000002.12:g.171715356A>G, NC_000002.11:g.172571866A>G, NW_025791761.1:g.145529A>G, NM_001378.3:c.424A>G, NM_001378.2:c.424A>G, NM_001320883.2:c.406A>G, NM_001320883.1:c.406A>G, NM_001271785.2:c.424A>G, NM_001271785.1:c.424A>G, NM_001271787.2:c.400A>G, NM_001271787.1:c.400A>G, NM_001271788.2:c.346A>G, NM_001271788.1:c.346A>G, NM_001271790.2:c.346A>G, NM_001271790.1:c.346A>G, NM_001271789.2:c.346A>G, NM_001271789.1:c.346A>G, NM_001320884.2:c.346A>G, NM_001320884.1:c.346A>G, NM_001320882.2:c.406A>G, NM_001320882.1:c.406A>G, NM_001271786.2:c.400A>G, NM_001271786.1:c.400A>G, NM_001378455.1:c.406A>G, NM_001378456.1:c.406A>G, NP_001369.1:p.Lys142Glu, NP_001307812.1:p.Lys136Glu, NP_001258714.1:p.Lys142Glu, NP_001258716.1:p.Lys134Glu, NP_001258717.1:p.Lys116Glu, NP_001258719.1:p.Lys116Glu, NP_001258718.1:p.Lys116Glu, NP_001307813.1:p.Lys116Glu, NP_001307811.1:p.Lys136Glu, NP_001258715.1:p.Lys134Glu, NP_001365384.1:p.Lys136Glu, NP_001365385.1:p.Lys136Glu

        4.

        rs1487064960 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          2:171745821 (GRCh38)
          2:172602331 (GRCh37)
          Canonical SPDI:
          NC_000002.12:171745820:C:A,NC_000002.12:171745820:C:T
          Gene:
          DYNC1I2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000002.12:g.171745821C>A, NC_000002.12:g.171745821C>T, NC_000002.11:g.172602331C>A, NC_000002.11:g.172602331C>T, NW_025791761.1:g.175994C>A, NW_025791761.1:g.175994C>T, NM_001378.3:c.1697C>A, NM_001378.3:c.1697C>T, NM_001378.2:c.1697C>A, NM_001378.2:c.1697C>T, NM_001271785.2:c.1697C>A, NM_001271785.2:c.1697C>T, NM_001271785.1:c.1697C>A, NM_001271785.1:c.1697C>T, NM_001320882.2:c.1679C>A, NM_001320882.2:c.1679C>T, NM_001320882.1:c.1679C>A, NM_001320882.1:c.1679C>T, NM_001271786.2:c.1673C>A, NM_001271786.2:c.1673C>T, NM_001271786.1:c.1673C>A, NM_001271786.1:c.1673C>T, NM_001320883.2:c.1679C>A, NM_001320883.2:c.1679C>T, NM_001320883.1:c.1679C>A, NM_001320883.1:c.1679C>T, NM_001271787.2:c.1673C>A, NM_001271787.2:c.1673C>T, NM_001271787.1:c.1673C>A, NM_001271787.1:c.1673C>T, NM_001271788.2:c.1619C>A, NM_001271788.2:c.1619C>T, NM_001271788.1:c.1619C>A, NM_001271788.1:c.1619C>T, NM_001271790.2:c.1619C>A, NM_001271790.2:c.1619C>T, NM_001271790.1:c.1619C>A, NM_001271790.1:c.1619C>T, NM_001271789.2:c.1619C>A, NM_001271789.2:c.1619C>T, NM_001271789.1:c.1619C>A, NM_001271789.1:c.1619C>T, NM_001320884.2:c.1619C>A, NM_001320884.2:c.1619C>T, NM_001320884.1:c.1619C>A, NM_001320884.1:c.1619C>T, NM_001378455.1:c.1679C>A, NM_001378455.1:c.1679C>T, NM_001378456.1:c.1679C>A, NM_001378456.1:c.1679C>T, NP_001369.1:p.Ser566Tyr, NP_001369.1:p.Ser566Phe, NP_001258714.1:p.Ser566Tyr, NP_001258714.1:p.Ser566Phe, NP_001307811.1:p.Ser560Tyr, NP_001307811.1:p.Ser560Phe, NP_001258715.1:p.Ser558Tyr, NP_001258715.1:p.Ser558Phe, NP_001307812.1:p.Ser560Tyr, NP_001307812.1:p.Ser560Phe, NP_001258716.1:p.Ser558Tyr, NP_001258716.1:p.Ser558Phe, NP_001258717.1:p.Ser540Tyr, NP_001258717.1:p.Ser540Phe, NP_001258719.1:p.Ser540Tyr, NP_001258719.1:p.Ser540Phe, NP_001258718.1:p.Ser540Tyr, NP_001258718.1:p.Ser540Phe, NP_001307813.1:p.Ser540Tyr, NP_001307813.1:p.Ser540Phe, NP_001365384.1:p.Ser560Tyr, NP_001365384.1:p.Ser560Phe, NP_001365385.1:p.Ser560Tyr, NP_001365385.1:p.Ser560Phe

          5.

          rs1486410983 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            2:171728378 (GRCh38)
            2:172584888 (GRCh37)
            Canonical SPDI:
            NC_000002.12:171728377:A:C,NC_000002.12:171728377:A:G
            Gene:
            DYNC1I2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000002.12:g.171728378A>C, NC_000002.12:g.171728378A>G, NC_000002.11:g.172584888A>C, NC_000002.11:g.172584888A>G, NW_025791761.1:g.158551A>C, NW_025791761.1:g.158551A>G, NM_001378.3:c.1217A>C, NM_001378.3:c.1217A>G, NM_001378.2:c.1217A>C, NM_001378.2:c.1217A>G, NM_001271785.2:c.1217A>C, NM_001271785.2:c.1217A>G, NM_001271785.1:c.1217A>C, NM_001271785.1:c.1217A>G, NM_001320882.2:c.1199A>C, NM_001320882.2:c.1199A>G, NM_001320882.1:c.1199A>C, NM_001320882.1:c.1199A>G, NM_001271786.2:c.1193A>C, NM_001271786.2:c.1193A>G, NM_001271786.1:c.1193A>C, NM_001271786.1:c.1193A>G, NM_001320883.2:c.1199A>C, NM_001320883.2:c.1199A>G, NM_001320883.1:c.1199A>C, NM_001320883.1:c.1199A>G, NM_001271787.2:c.1193A>C, NM_001271787.2:c.1193A>G, NM_001271787.1:c.1193A>C, NM_001271787.1:c.1193A>G, NM_001271788.2:c.1139A>C, NM_001271788.2:c.1139A>G, NM_001271788.1:c.1139A>C, NM_001271788.1:c.1139A>G, NM_001271790.2:c.1139A>C, NM_001271790.2:c.1139A>G, NM_001271790.1:c.1139A>C, NM_001271790.1:c.1139A>G, NM_001271789.2:c.1139A>C, NM_001271789.2:c.1139A>G, NM_001271789.1:c.1139A>C, NM_001271789.1:c.1139A>G, NM_001320884.2:c.1139A>C, NM_001320884.2:c.1139A>G, NM_001320884.1:c.1139A>C, NM_001320884.1:c.1139A>G, NM_001378455.1:c.1199A>C, NM_001378455.1:c.1199A>G, NM_001378456.1:c.1199A>C, NM_001378456.1:c.1199A>G, NP_001369.1:p.Lys406Thr, NP_001369.1:p.Lys406Arg, NP_001258714.1:p.Lys406Thr, NP_001258714.1:p.Lys406Arg, NP_001307811.1:p.Lys400Thr, NP_001307811.1:p.Lys400Arg, NP_001258715.1:p.Lys398Thr, NP_001258715.1:p.Lys398Arg, NP_001307812.1:p.Lys400Thr, NP_001307812.1:p.Lys400Arg, NP_001258716.1:p.Lys398Thr, NP_001258716.1:p.Lys398Arg, NP_001258717.1:p.Lys380Thr, NP_001258717.1:p.Lys380Arg, NP_001258719.1:p.Lys380Thr, NP_001258719.1:p.Lys380Arg, NP_001258718.1:p.Lys380Thr, NP_001258718.1:p.Lys380Arg, NP_001307813.1:p.Lys380Thr, NP_001307813.1:p.Lys380Arg, NP_001365384.1:p.Lys400Thr, NP_001365384.1:p.Lys400Arg, NP_001365385.1:p.Lys400Thr, NP_001365385.1:p.Lys400Arg

            6.

            rs1484843969 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:171726049 (GRCh38)
              2:172582559 (GRCh37)
              Canonical SPDI:
              NC_000002.12:171726048:C:T
              Gene:
              DYNC1I2 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              HGVS:

              7.

              rs1484359716 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:171728734 (GRCh38)
                2:172585244 (GRCh37)
                Canonical SPDI:
                NC_000002.12:171728733:T:C
                Gene:
                DYNC1I2 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1484254116 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  2:171744076 (GRCh38)
                  2:172600586 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:171744075:G:T
                  Gene:
                  DYNC1I2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000002.12:g.171744076G>T, NC_000002.11:g.172600586G>T, NW_025791761.1:g.174249G>T, NM_001378.3:c.1564G>T, NM_001378.2:c.1564G>T, NM_001271785.2:c.1564G>T, NM_001271785.1:c.1564G>T, NM_001320882.2:c.1546G>T, NM_001320882.1:c.1546G>T, NM_001271786.2:c.1540G>T, NM_001271786.1:c.1540G>T, NM_001320883.2:c.1546G>T, NM_001320883.1:c.1546G>T, NM_001271787.2:c.1540G>T, NM_001271787.1:c.1540G>T, NM_001271788.2:c.1486G>T, NM_001271788.1:c.1486G>T, NM_001271790.2:c.1486G>T, NM_001271790.1:c.1486G>T, NM_001271789.2:c.1486G>T, NM_001271789.1:c.1486G>T, NM_001320884.2:c.1486G>T, NM_001320884.1:c.1486G>T, NM_001378455.1:c.1546G>T, NM_001378456.1:c.1546G>T, NP_001369.1:p.Asp522Tyr, NP_001258714.1:p.Asp522Tyr, NP_001307811.1:p.Asp516Tyr, NP_001258715.1:p.Asp514Tyr, NP_001307812.1:p.Asp516Tyr, NP_001258716.1:p.Asp514Tyr, NP_001258717.1:p.Asp496Tyr, NP_001258719.1:p.Asp496Tyr, NP_001258718.1:p.Asp496Tyr, NP_001307813.1:p.Asp496Tyr, NP_001365384.1:p.Asp516Tyr, NP_001365385.1:p.Asp516Tyr

                  9.

                  rs1483359711 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    2:171728752 (GRCh38)
                    2:172585262 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:171728751:A:C
                    Gene:
                    DYNC1I2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1482413757 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      2:171745871 (GRCh38)
                      2:172602381 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:171745870:A:C
                      Gene:
                      DYNC1I2 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1482166081 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:171725647 (GRCh38)
                        2:172582157 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:171725646:C:T
                        Gene:
                        DYNC1I2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000084/1 (ALFA)
                        T=0.000008/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.171725647C>T, NC_000002.11:g.172582157C>T, NW_025791761.1:g.155820C>T, NM_001378.3:c.541C>T, NM_001378.2:c.541C>T, NM_001271785.2:c.541C>T, NM_001271785.1:c.541C>T, NM_001320882.2:c.523C>T, NM_001320882.1:c.523C>T, NM_001271786.2:c.517C>T, NM_001271786.1:c.517C>T, NM_001320883.2:c.523C>T, NM_001320883.1:c.523C>T, NM_001271787.2:c.517C>T, NM_001271787.1:c.517C>T, NM_001271788.2:c.463C>T, NM_001271788.1:c.463C>T, NM_001271790.2:c.463C>T, NM_001271790.1:c.463C>T, NM_001271789.2:c.463C>T, NM_001271789.1:c.463C>T, NM_001320884.2:c.463C>T, NM_001320884.1:c.463C>T, NM_001378455.1:c.523C>T, NM_001378456.1:c.523C>T, NP_001369.1:p.Pro181Ser, NP_001258714.1:p.Pro181Ser, NP_001307811.1:p.Pro175Ser, NP_001258715.1:p.Pro173Ser, NP_001307812.1:p.Pro175Ser, NP_001258716.1:p.Pro173Ser, NP_001258717.1:p.Pro155Ser, NP_001258719.1:p.Pro155Ser, NP_001258718.1:p.Pro155Ser, NP_001307813.1:p.Pro155Ser, NP_001365384.1:p.Pro175Ser, NP_001365385.1:p.Pro175Ser

                        12.

                        rs1477469937 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          2:171744148 (GRCh38)
                          2:172600658 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:171744147:A:T
                          Gene:
                          DYNC1I2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.171744148A>T, NC_000002.11:g.172600658A>T, NW_025791761.1:g.174321A>T, NM_001378.3:c.1636A>T, NM_001378.2:c.1636A>T, NM_001271785.2:c.1636A>T, NM_001271785.1:c.1636A>T, NM_001320882.2:c.1618A>T, NM_001320882.1:c.1618A>T, NM_001271786.2:c.1612A>T, NM_001271786.1:c.1612A>T, NM_001320883.2:c.1618A>T, NM_001320883.1:c.1618A>T, NM_001271787.2:c.1612A>T, NM_001271787.1:c.1612A>T, NM_001271788.2:c.1558A>T, NM_001271788.1:c.1558A>T, NM_001271790.2:c.1558A>T, NM_001271790.1:c.1558A>T, NM_001271789.2:c.1558A>T, NM_001271789.1:c.1558A>T, NM_001320884.2:c.1558A>T, NM_001320884.1:c.1558A>T, NM_001378455.1:c.1618A>T, NM_001378456.1:c.1618A>T, NP_001369.1:p.Met546Leu, NP_001258714.1:p.Met546Leu, NP_001307811.1:p.Met540Leu, NP_001258715.1:p.Met538Leu, NP_001307812.1:p.Met540Leu, NP_001258716.1:p.Met538Leu, NP_001258717.1:p.Met520Leu, NP_001258719.1:p.Met520Leu, NP_001258718.1:p.Met520Leu, NP_001307813.1:p.Met520Leu, NP_001365384.1:p.Met540Leu, NP_001365385.1:p.Met540Leu

                          13.

                          rs1476821530 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            2:171692818 (GRCh38)
                            2:172549328 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:171692817:A:C
                            Gene:
                            DYNC1I2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.171692818A>C, NC_000002.11:g.172549328A>C, NW_025791761.1:g.122991A>C, NM_001378.3:c.150A>C, NM_001378.2:c.150A>C, NM_001320883.2:c.150A>C, NM_001320883.1:c.150A>C, NM_001271785.2:c.150A>C, NM_001271785.1:c.150A>C, NM_001271787.2:c.150A>C, NM_001271787.1:c.150A>C, NM_001271788.2:c.150A>C, NM_001271788.1:c.150A>C, NM_001271790.2:c.150A>C, NM_001271790.1:c.150A>C, NM_001271789.2:c.150A>C, NM_001271789.1:c.150A>C, NM_001320884.2:c.150A>C, NM_001320884.1:c.150A>C, NM_001320882.2:c.150A>C, NM_001320882.1:c.150A>C, NM_001271786.2:c.150A>C, NM_001271786.1:c.150A>C, NM_001378455.1:c.150A>C, NM_001378456.1:c.150A>C, NP_001369.1:p.Glu50Asp, NP_001307812.1:p.Glu50Asp, NP_001258714.1:p.Glu50Asp, NP_001258716.1:p.Glu50Asp, NP_001258717.1:p.Glu50Asp, NP_001258719.1:p.Glu50Asp, NP_001258718.1:p.Glu50Asp, NP_001307813.1:p.Glu50Asp, NP_001307811.1:p.Glu50Asp, NP_001258715.1:p.Glu50Asp, NP_001365384.1:p.Glu50Asp, NP_001365385.1:p.Glu50Asp

                            14.

                            rs1476377812 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:171745828 (GRCh38)
                              2:172602338 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:171745827:G:A
                              Gene:
                              DYNC1I2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000085/3 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000019/5 (TOPMED)
                              A=0.000021/3 (GnomAD)
                              HGVS:

                              15.

                              rs1474182146 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                2:171727888 (GRCh38)
                                2:172584398 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:171727887:G:T
                                Gene:
                                DYNC1I2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.171727888G>T, NC_000002.11:g.172584398G>T, NW_025791761.1:g.158061G>T, NM_001378.3:c.1064G>T, NM_001378.2:c.1064G>T, NM_001271785.2:c.1064G>T, NM_001271785.1:c.1064G>T, NM_001320882.2:c.1046G>T, NM_001320882.1:c.1046G>T, NM_001271786.2:c.1040G>T, NM_001271786.1:c.1040G>T, NM_001320883.2:c.1046G>T, NM_001320883.1:c.1046G>T, NM_001271787.2:c.1040G>T, NM_001271787.1:c.1040G>T, NM_001271788.2:c.986G>T, NM_001271788.1:c.986G>T, NM_001271790.2:c.986G>T, NM_001271790.1:c.986G>T, NM_001271789.2:c.986G>T, NM_001271789.1:c.986G>T, NM_001320884.2:c.986G>T, NM_001320884.1:c.986G>T, NM_001378455.1:c.1046G>T, NM_001378456.1:c.1046G>T, NP_001369.1:p.Gly355Val, NP_001258714.1:p.Gly355Val, NP_001307811.1:p.Gly349Val, NP_001258715.1:p.Gly347Val, NP_001307812.1:p.Gly349Val, NP_001258716.1:p.Gly347Val, NP_001258717.1:p.Gly329Val, NP_001258719.1:p.Gly329Val, NP_001258718.1:p.Gly329Val, NP_001307813.1:p.Gly329Val, NP_001365384.1:p.Gly349Val, NP_001365385.1:p.Gly349Val

                                16.

                                rs1473190349 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:171715434 (GRCh38)
                                  2:172571944 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:171715433:C:T
                                  Gene:
                                  DYNC1I2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000006/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.171715434C>T, NC_000002.11:g.172571944C>T, NW_025791761.1:g.145607C>T, NM_001378.3:c.502C>T, NM_001378.2:c.502C>T, NM_001320883.2:c.484C>T, NM_001320883.1:c.484C>T, NM_001271785.2:c.502C>T, NM_001271785.1:c.502C>T, NM_001271787.2:c.478C>T, NM_001271787.1:c.478C>T, NM_001271788.2:c.424C>T, NM_001271788.1:c.424C>T, NM_001271790.2:c.424C>T, NM_001271790.1:c.424C>T, NM_001271789.2:c.424C>T, NM_001271789.1:c.424C>T, NM_001320884.2:c.424C>T, NM_001320884.1:c.424C>T, NM_001320882.2:c.484C>T, NM_001320882.1:c.484C>T, NM_001271786.2:c.478C>T, NM_001271786.1:c.478C>T, NM_001378455.1:c.484C>T, NM_001378456.1:c.484C>T, NP_001369.1:p.Pro168Ser, NP_001307812.1:p.Pro162Ser, NP_001258714.1:p.Pro168Ser, NP_001258716.1:p.Pro160Ser, NP_001258717.1:p.Pro142Ser, NP_001258719.1:p.Pro142Ser, NP_001258718.1:p.Pro142Ser, NP_001307813.1:p.Pro142Ser, NP_001307811.1:p.Pro162Ser, NP_001258715.1:p.Pro160Ser, NP_001365384.1:p.Pro162Ser, NP_001365385.1:p.Pro162Ser

                                  17.

                                  rs1471061264 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAG>- [Show Flanks]
                                    Chromosome:
                                    2:171690262 (GRCh38)
                                    2:172546772 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:171690258:AAGAAG:AAG
                                    Gene:
                                    DYNC1I2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,splice_donor_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAGAAG=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1469460024 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:171715360 (GRCh38)
                                      2:172571870 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:171715359:T:C
                                      Gene:
                                      DYNC1I2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000002.12:g.171715360T>C, NC_000002.11:g.172571870T>C, NW_025791761.1:g.145533T>C, NM_001378.3:c.428T>C, NM_001378.2:c.428T>C, NM_001271785.2:c.428T>C, NM_001271785.1:c.428T>C, NM_001320882.2:c.410T>C, NM_001320882.1:c.410T>C, NM_001271786.2:c.404T>C, NM_001271786.1:c.404T>C, NM_001320883.2:c.410T>C, NM_001320883.1:c.410T>C, NM_001271787.2:c.404T>C, NM_001271787.1:c.404T>C, NM_001271788.2:c.350T>C, NM_001271788.1:c.350T>C, NM_001271790.2:c.350T>C, NM_001271790.1:c.350T>C, NM_001271789.2:c.350T>C, NM_001271789.1:c.350T>C, NM_001320884.2:c.350T>C, NM_001320884.1:c.350T>C, NM_001378455.1:c.410T>C, NM_001378456.1:c.410T>C, NP_001369.1:p.Ile143Thr, NP_001258714.1:p.Ile143Thr, NP_001307811.1:p.Ile137Thr, NP_001258715.1:p.Ile135Thr, NP_001307812.1:p.Ile137Thr, NP_001258716.1:p.Ile135Thr, NP_001258717.1:p.Ile117Thr, NP_001258719.1:p.Ile117Thr, NP_001258718.1:p.Ile117Thr, NP_001307813.1:p.Ile117Thr, NP_001365384.1:p.Ile137Thr, NP_001365385.1:p.Ile137Thr

                                      19.

                                      rs1466665198 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:171715421 (GRCh38)
                                        2:172571931 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:171715420:A:G
                                        Gene:
                                        DYNC1I2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        HGVS:

                                        20.

                                        rs1463323402 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          A>- [Show Flanks]
                                          Chromosome:
                                          2:171727908 (GRCh38)
                                          2:172584418 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:171727907:AA:A
                                          Gene:
                                          DYNC1I2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,frameshift_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.171727909del, NC_000002.11:g.172584419del, NW_025791761.1:g.158082del, NM_001378.3:c.1085del, NM_001378.2:c.1085del, NM_001271785.2:c.1085del, NM_001271785.1:c.1085del, NM_001320882.2:c.1067del, NM_001320882.1:c.1067del, NM_001271786.2:c.1061del, NM_001271786.1:c.1061del, NM_001320883.2:c.1067del, NM_001320883.1:c.1067del, NM_001271787.2:c.1061del, NM_001271787.1:c.1061del, NM_001271788.2:c.1007del, NM_001271788.1:c.1007del, NM_001271790.2:c.1007del, NM_001271790.1:c.1007del, NM_001271789.2:c.1007del, NM_001271789.1:c.1007del, NM_001320884.2:c.1007del, NM_001320884.1:c.1007del, NM_001378455.1:c.1067del, NM_001378456.1:c.1067del, NP_001369.1:p.Asn362fs, NP_001258714.1:p.Asn362fs, NP_001307811.1:p.Asn356fs, NP_001258715.1:p.Asn354fs, NP_001307812.1:p.Asn356fs, NP_001258716.1:p.Asn354fs, NP_001258717.1:p.Asn336fs, NP_001258719.1:p.Asn336fs, NP_001258718.1:p.Asn336fs, NP_001307813.1:p.Asn336fs, NP_001365384.1:p.Asn356fs, NP_001365385.1:p.Asn356fs

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