U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 253

1.

rs1487352546 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:88178994 (GRCh38)
    2:88478513 (GRCh37)
    Canonical SPDI:
    NC_000002.12:88178993:G:A
    Gene:
    THNSL2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.88178994G>A, NC_000002.11:g.88478513G>A, NG_030037.1:g.13700G>A, NM_018271.5:c.783G>A, NM_018271.4:c.783G>A, NM_001244676.2:c.783G>A, NM_001244676.1:c.783G>A, NM_001244678.2:c.309G>A, NM_001244678.1:c.309G>A, NM_001384383.1:c.783G>A, NM_001384382.1:c.309G>A, XM_005264401.6:c.783G>A, XM_005264401.5:c.783G>A, XM_005264401.4:c.783G>A, XM_005264401.3:c.783G>A, XM_005264401.2:c.783G>A, XM_005264401.1:c.783G>A, XM_006712041.4:c.783G>A, XM_006712041.3:c.783G>A, XM_006712041.2:c.783G>A, XM_006712041.1:c.783G>A, XM_006712044.4:c.783G>A, XM_006712044.3:c.783G>A, XM_006712044.2:c.783G>A, XM_006712044.1:c.783G>A, XM_005264402.4:c.783G>A, XM_005264402.3:c.783G>A, XM_005264402.2:c.783G>A, XM_005264402.1:c.783G>A, XM_006712042.4:c.783G>A, XM_006712042.3:c.783G>A, XM_006712042.2:c.783G>A, XM_006712042.1:c.783G>A, XM_011532954.3:c.588G>A, XM_011532954.2:c.588G>A, XM_011532954.1:c.588G>A, XM_011532953.3:c.783G>A, XM_011532953.2:c.783G>A, XM_011532953.1:c.783G>A, XM_006712043.3:c.783G>A, XM_006712043.2:c.783G>A, XM_006712043.1:c.783G>A, XM_011532955.3:c.309G>A, XM_011532955.2:c.309G>A, XM_011532955.1:c.309G>A, XM_024452975.2:c.783G>A, XM_024452975.1:c.783G>A, XM_047444899.1:c.783G>A, XM_047444896.1:c.783G>A, XM_047444898.1:c.783G>A, XM_047444900.1:c.783G>A, XM_047444902.1:c.309G>A, XM_047444901.1:c.588G>A

    2.

    rs1486374028 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      2:88182846 (GRCh38)
      2:88482365 (GRCh37)
      Canonical SPDI:
      NC_000002.12:88182845:A:C
      Gene:
      THNSL2 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.88182846A>C, NC_000002.11:g.88482365A>C, NG_030037.1:g.17552A>C, NM_018271.5:c.950A>C, NM_018271.4:c.950A>C, NM_001244676.2:c.950A>C, NM_001244676.1:c.950A>C, NM_001244678.2:c.476A>C, NM_001244678.1:c.476A>C, NM_001384383.1:c.950A>C, NM_001384382.1:c.476A>C, XM_005264401.6:c.950A>C, XM_005264401.5:c.950A>C, XM_005264401.4:c.950A>C, XM_005264401.3:c.950A>C, XM_005264401.2:c.950A>C, XM_005264401.1:c.950A>C, XM_006712041.4:c.950A>C, XM_006712041.3:c.950A>C, XM_006712041.2:c.950A>C, XM_006712041.1:c.950A>C, XM_005264402.4:c.950A>C, XM_005264402.3:c.950A>C, XM_005264402.2:c.950A>C, XM_005264402.1:c.950A>C, XM_006712042.4:c.950A>C, XM_006712042.3:c.950A>C, XM_006712042.2:c.950A>C, XM_006712042.1:c.950A>C, XM_011532954.3:c.755A>C, XM_011532954.2:c.755A>C, XM_011532954.1:c.755A>C, XM_011532953.3:c.950A>C, XM_011532953.2:c.950A>C, XM_011532953.1:c.950A>C, XM_006712043.3:c.950A>C, XM_006712043.2:c.950A>C, XM_006712043.1:c.950A>C, XM_011532955.3:c.476A>C, XM_011532955.2:c.476A>C, XM_011532955.1:c.476A>C, XM_024452975.2:c.950A>C, XM_024452975.1:c.950A>C, XM_047444899.1:c.950A>C, XM_047444896.1:c.950A>C, XM_047444898.1:c.950A>C, XM_047444900.1:c.950A>C, XM_047444902.1:c.476A>C, XM_047444901.1:c.755A>C, NP_060741.3:p.Gln317Pro, NP_001231605.1:p.Gln317Pro, NP_001231607.1:p.Gln159Pro, NP_001371312.1:p.Gln317Pro, NP_001371311.1:p.Gln159Pro, XP_005264458.1:p.Gln317Pro, XP_006712104.1:p.Gln317Pro, XP_005264459.1:p.Gln317Pro, XP_006712105.1:p.Gln317Pro, XP_011531256.1:p.Gln252Pro, XP_011531255.1:p.Gln317Pro, XP_006712106.1:p.Gln317Pro, XP_011531257.1:p.Gln159Pro, XP_024308743.1:p.Gln317Pro, XP_047300855.1:p.Gln317Pro, XP_047300852.1:p.Gln317Pro, XP_047300854.1:p.Gln317Pro, XP_047300856.1:p.Gln317Pro, XP_047300858.1:p.Gln159Pro, XP_047300857.1:p.Gln252Pro

      3.

      rs1485865559 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:88178980 (GRCh38)
        2:88478499 (GRCh37)
        Canonical SPDI:
        NC_000002.12:88178979:G:A
        Gene:
        THNSL2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000002.12:g.88178980G>A, NC_000002.11:g.88478499G>A, NG_030037.1:g.13686G>A, NM_018271.5:c.769G>A, NM_018271.4:c.769G>A, NM_001244676.2:c.769G>A, NM_001244676.1:c.769G>A, NM_001244678.2:c.295G>A, NM_001244678.1:c.295G>A, NM_001384383.1:c.769G>A, NM_001384382.1:c.295G>A, XM_005264401.6:c.769G>A, XM_005264401.5:c.769G>A, XM_005264401.4:c.769G>A, XM_005264401.3:c.769G>A, XM_005264401.2:c.769G>A, XM_005264401.1:c.769G>A, XM_006712041.4:c.769G>A, XM_006712041.3:c.769G>A, XM_006712041.2:c.769G>A, XM_006712041.1:c.769G>A, XM_006712044.4:c.769G>A, XM_006712044.3:c.769G>A, XM_006712044.2:c.769G>A, XM_006712044.1:c.769G>A, XM_005264402.4:c.769G>A, XM_005264402.3:c.769G>A, XM_005264402.2:c.769G>A, XM_005264402.1:c.769G>A, XM_006712042.4:c.769G>A, XM_006712042.3:c.769G>A, XM_006712042.2:c.769G>A, XM_006712042.1:c.769G>A, XM_011532954.3:c.574G>A, XM_011532954.2:c.574G>A, XM_011532954.1:c.574G>A, XM_011532953.3:c.769G>A, XM_011532953.2:c.769G>A, XM_011532953.1:c.769G>A, XM_006712043.3:c.769G>A, XM_006712043.2:c.769G>A, XM_006712043.1:c.769G>A, XM_011532955.3:c.295G>A, XM_011532955.2:c.295G>A, XM_011532955.1:c.295G>A, XM_024452975.2:c.769G>A, XM_024452975.1:c.769G>A, XM_047444899.1:c.769G>A, XM_047444896.1:c.769G>A, XM_047444898.1:c.769G>A, XM_047444900.1:c.769G>A, XM_047444902.1:c.295G>A, XM_047444901.1:c.574G>A, NP_060741.3:p.Val257Ile, NP_001231605.1:p.Val257Ile, NP_001231607.1:p.Val99Ile, NP_001371312.1:p.Val257Ile, NP_001371311.1:p.Val99Ile, XP_005264458.1:p.Val257Ile, XP_006712104.1:p.Val257Ile, XP_006712107.1:p.Val257Ile, XP_005264459.1:p.Val257Ile, XP_006712105.1:p.Val257Ile, XP_011531256.1:p.Val192Ile, XP_011531255.1:p.Val257Ile, XP_006712106.1:p.Val257Ile, XP_011531257.1:p.Val99Ile, XP_024308743.1:p.Val257Ile, XP_047300855.1:p.Val257Ile, XP_047300852.1:p.Val257Ile, XP_047300854.1:p.Val257Ile, XP_047300856.1:p.Val257Ile, XP_047300858.1:p.Val99Ile, XP_047300857.1:p.Val192Ile

        4.

        rs1482483597 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:88175352 (GRCh38)
          2:88474871 (GRCh37)
          Canonical SPDI:
          NC_000002.12:88175351:G:A
          Gene:
          THNSL2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.88175352G>A, NC_000002.11:g.88474871G>A, NG_030037.1:g.10058G>A, NM_018271.5:c.522G>A, NM_018271.4:c.522G>A, NM_001244676.2:c.522G>A, NM_001244676.1:c.522G>A, NM_001244678.2:c.48G>A, NM_001244678.1:c.48G>A, NM_001384383.1:c.522G>A, NM_001384382.1:c.48G>A, XM_005264401.6:c.522G>A, XM_005264401.5:c.522G>A, XM_005264401.4:c.522G>A, XM_005264401.3:c.522G>A, XM_005264401.2:c.522G>A, XM_005264401.1:c.522G>A, XM_006712041.4:c.522G>A, XM_006712041.3:c.522G>A, XM_006712041.2:c.522G>A, XM_006712041.1:c.522G>A, XM_006712044.4:c.522G>A, XM_006712044.3:c.522G>A, XM_006712044.2:c.522G>A, XM_006712044.1:c.522G>A, XM_005264402.4:c.522G>A, XM_005264402.3:c.522G>A, XM_005264402.2:c.522G>A, XM_005264402.1:c.522G>A, XM_006712042.4:c.522G>A, XM_006712042.3:c.522G>A, XM_006712042.2:c.522G>A, XM_006712042.1:c.522G>A, XM_011532954.3:c.327G>A, XM_011532954.2:c.327G>A, XM_011532954.1:c.327G>A, XM_011532953.3:c.522G>A, XM_011532953.2:c.522G>A, XM_011532953.1:c.522G>A, XM_006712043.3:c.522G>A, XM_006712043.2:c.522G>A, XM_006712043.1:c.522G>A, XM_011532955.3:c.48G>A, XM_011532955.2:c.48G>A, XM_011532955.1:c.48G>A, XM_024452975.2:c.522G>A, XM_024452975.1:c.522G>A, XM_047444899.1:c.522G>A, XM_047444896.1:c.522G>A, XM_047444898.1:c.522G>A, XM_047444900.1:c.522G>A, XM_047444902.1:c.48G>A, XM_047444901.1:c.327G>A

          5.

          rs1480995929 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:88175373 (GRCh38)
            2:88474892 (GRCh37)
            Canonical SPDI:
            NC_000002.12:88175372:G:A
            Gene:
            THNSL2 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000002.12:g.88175373G>A, NC_000002.11:g.88474892G>A, NG_030037.1:g.10079G>A, NM_018271.5:c.543G>A, NM_018271.4:c.543G>A, NM_001244676.2:c.543G>A, NM_001244676.1:c.543G>A, NM_001244678.2:c.69G>A, NM_001244678.1:c.69G>A, NM_001384383.1:c.543G>A, NM_001384382.1:c.69G>A, XM_005264401.6:c.543G>A, XM_005264401.5:c.543G>A, XM_005264401.4:c.543G>A, XM_005264401.3:c.543G>A, XM_005264401.2:c.543G>A, XM_005264401.1:c.543G>A, XM_006712041.4:c.543G>A, XM_006712041.3:c.543G>A, XM_006712041.2:c.543G>A, XM_006712041.1:c.543G>A, XM_006712044.4:c.543G>A, XM_006712044.3:c.543G>A, XM_006712044.2:c.543G>A, XM_006712044.1:c.543G>A, XM_005264402.4:c.543G>A, XM_005264402.3:c.543G>A, XM_005264402.2:c.543G>A, XM_005264402.1:c.543G>A, XM_006712042.4:c.543G>A, XM_006712042.3:c.543G>A, XM_006712042.2:c.543G>A, XM_006712042.1:c.543G>A, XM_011532954.3:c.348G>A, XM_011532954.2:c.348G>A, XM_011532954.1:c.348G>A, XM_011532953.3:c.543G>A, XM_011532953.2:c.543G>A, XM_011532953.1:c.543G>A, XM_006712043.3:c.543G>A, XM_006712043.2:c.543G>A, XM_006712043.1:c.543G>A, XM_011532955.3:c.69G>A, XM_011532955.2:c.69G>A, XM_011532955.1:c.69G>A, XM_024452975.2:c.543G>A, XM_024452975.1:c.543G>A, XM_047444899.1:c.543G>A, XM_047444896.1:c.543G>A, XM_047444898.1:c.543G>A, XM_047444900.1:c.543G>A, XM_047444902.1:c.69G>A, XM_047444901.1:c.348G>A

            6.

            rs1480514492 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:88182763 (GRCh38)
              2:88482282 (GRCh37)
              Canonical SPDI:
              NC_000002.12:88182762:C:T
              Gene:
              THNSL2 (Varview)
              Functional Consequence:
              intron_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.88182763C>T, NC_000002.11:g.88482282C>T, NG_030037.1:g.17469C>T, NM_018271.5:c.867C>T, NM_018271.4:c.867C>T, NM_001244676.2:c.867C>T, NM_001244676.1:c.867C>T, NM_001244678.2:c.393C>T, NM_001244678.1:c.393C>T, NM_001384383.1:c.867C>T, NM_001384382.1:c.393C>T, XM_005264401.6:c.867C>T, XM_005264401.5:c.867C>T, XM_005264401.4:c.867C>T, XM_005264401.3:c.867C>T, XM_005264401.2:c.867C>T, XM_005264401.1:c.867C>T, XM_006712041.4:c.867C>T, XM_006712041.3:c.867C>T, XM_006712041.2:c.867C>T, XM_006712041.1:c.867C>T, XM_005264402.4:c.867C>T, XM_005264402.3:c.867C>T, XM_005264402.2:c.867C>T, XM_005264402.1:c.867C>T, XM_006712042.4:c.867C>T, XM_006712042.3:c.867C>T, XM_006712042.2:c.867C>T, XM_006712042.1:c.867C>T, XM_011532954.3:c.672C>T, XM_011532954.2:c.672C>T, XM_011532954.1:c.672C>T, XM_011532953.3:c.867C>T, XM_011532953.2:c.867C>T, XM_011532953.1:c.867C>T, XM_006712043.3:c.867C>T, XM_006712043.2:c.867C>T, XM_006712043.1:c.867C>T, XM_011532955.3:c.393C>T, XM_011532955.2:c.393C>T, XM_011532955.1:c.393C>T, XM_024452975.2:c.867C>T, XM_024452975.1:c.867C>T, XM_047444899.1:c.867C>T, XM_047444896.1:c.867C>T, XM_047444898.1:c.867C>T, XM_047444900.1:c.867C>T, XM_047444902.1:c.393C>T, XM_047444901.1:c.672C>T

              7.

              rs1475043939 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:88178908 (GRCh38)
                2:88478427 (GRCh37)
                Canonical SPDI:
                NC_000002.12:88178907:G:A
                Gene:
                THNSL2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.88178908G>A, NC_000002.11:g.88478427G>A, NG_030037.1:g.13614G>A, NM_018271.5:c.697G>A, NM_018271.4:c.697G>A, NM_001244676.2:c.697G>A, NM_001244676.1:c.697G>A, NM_001244678.2:c.223G>A, NM_001244678.1:c.223G>A, NM_001384383.1:c.697G>A, NM_001384382.1:c.223G>A, XM_005264401.6:c.697G>A, XM_005264401.5:c.697G>A, XM_005264401.4:c.697G>A, XM_005264401.3:c.697G>A, XM_005264401.2:c.697G>A, XM_005264401.1:c.697G>A, XM_006712041.4:c.697G>A, XM_006712041.3:c.697G>A, XM_006712041.2:c.697G>A, XM_006712041.1:c.697G>A, XM_006712044.4:c.697G>A, XM_006712044.3:c.697G>A, XM_006712044.2:c.697G>A, XM_006712044.1:c.697G>A, XM_005264402.4:c.697G>A, XM_005264402.3:c.697G>A, XM_005264402.2:c.697G>A, XM_005264402.1:c.697G>A, XM_006712042.4:c.697G>A, XM_006712042.3:c.697G>A, XM_006712042.2:c.697G>A, XM_006712042.1:c.697G>A, XM_011532954.3:c.502G>A, XM_011532954.2:c.502G>A, XM_011532954.1:c.502G>A, XM_011532953.3:c.697G>A, XM_011532953.2:c.697G>A, XM_011532953.1:c.697G>A, XM_006712043.3:c.697G>A, XM_006712043.2:c.697G>A, XM_006712043.1:c.697G>A, XM_011532955.3:c.223G>A, XM_011532955.2:c.223G>A, XM_011532955.1:c.223G>A, XM_024452975.2:c.697G>A, XM_024452975.1:c.697G>A, XM_047444899.1:c.697G>A, XM_047444896.1:c.697G>A, XM_047444898.1:c.697G>A, XM_047444900.1:c.697G>A, XM_047444902.1:c.223G>A, XM_047444901.1:c.502G>A, NP_060741.3:p.Ala233Thr, NP_001231605.1:p.Ala233Thr, NP_001231607.1:p.Ala75Thr, NP_001371312.1:p.Ala233Thr, NP_001371311.1:p.Ala75Thr, XP_005264458.1:p.Ala233Thr, XP_006712104.1:p.Ala233Thr, XP_006712107.1:p.Ala233Thr, XP_005264459.1:p.Ala233Thr, XP_006712105.1:p.Ala233Thr, XP_011531256.1:p.Ala168Thr, XP_011531255.1:p.Ala233Thr, XP_006712106.1:p.Ala233Thr, XP_011531257.1:p.Ala75Thr, XP_024308743.1:p.Ala233Thr, XP_047300855.1:p.Ala233Thr, XP_047300852.1:p.Ala233Thr, XP_047300854.1:p.Ala233Thr, XP_047300856.1:p.Ala233Thr, XP_047300858.1:p.Ala75Thr, XP_047300857.1:p.Ala168Thr

                8.

                rs1465173578 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  2:88178884 (GRCh38)
                  2:88478403 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:88178883:T:G
                  Gene:
                  THNSL2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000224/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000223/1 (Estonian)
                  HGVS:
                  NC_000002.12:g.88178884T>G, NC_000002.11:g.88478403T>G, NG_030037.1:g.13590T>G, NM_018271.5:c.673T>G, NM_018271.4:c.673T>G, NM_001244676.2:c.673T>G, NM_001244676.1:c.673T>G, NM_001244678.2:c.199T>G, NM_001244678.1:c.199T>G, NM_001384383.1:c.673T>G, NM_001384382.1:c.199T>G, XM_005264401.6:c.673T>G, XM_005264401.5:c.673T>G, XM_005264401.4:c.673T>G, XM_005264401.3:c.673T>G, XM_005264401.2:c.673T>G, XM_005264401.1:c.673T>G, XM_006712041.4:c.673T>G, XM_006712041.3:c.673T>G, XM_006712041.2:c.673T>G, XM_006712041.1:c.673T>G, XM_006712044.4:c.673T>G, XM_006712044.3:c.673T>G, XM_006712044.2:c.673T>G, XM_006712044.1:c.673T>G, XM_005264402.4:c.673T>G, XM_005264402.3:c.673T>G, XM_005264402.2:c.673T>G, XM_005264402.1:c.673T>G, XM_006712042.4:c.673T>G, XM_006712042.3:c.673T>G, XM_006712042.2:c.673T>G, XM_006712042.1:c.673T>G, XM_011532954.3:c.478T>G, XM_011532954.2:c.478T>G, XM_011532954.1:c.478T>G, XM_011532953.3:c.673T>G, XM_011532953.2:c.673T>G, XM_011532953.1:c.673T>G, XM_006712043.3:c.673T>G, XM_006712043.2:c.673T>G, XM_006712043.1:c.673T>G, XM_011532955.3:c.199T>G, XM_011532955.2:c.199T>G, XM_011532955.1:c.199T>G, XM_024452975.2:c.673T>G, XM_024452975.1:c.673T>G, XM_047444899.1:c.673T>G, XM_047444896.1:c.673T>G, XM_047444898.1:c.673T>G, XM_047444900.1:c.673T>G, XM_047444902.1:c.199T>G, XM_047444901.1:c.478T>G, NP_060741.3:p.Trp225Gly, NP_001231605.1:p.Trp225Gly, NP_001231607.1:p.Trp67Gly, NP_001371312.1:p.Trp225Gly, NP_001371311.1:p.Trp67Gly, XP_005264458.1:p.Trp225Gly, XP_006712104.1:p.Trp225Gly, XP_006712107.1:p.Trp225Gly, XP_005264459.1:p.Trp225Gly, XP_006712105.1:p.Trp225Gly, XP_011531256.1:p.Trp160Gly, XP_011531255.1:p.Trp225Gly, XP_006712106.1:p.Trp225Gly, XP_011531257.1:p.Trp67Gly, XP_024308743.1:p.Trp225Gly, XP_047300855.1:p.Trp225Gly, XP_047300852.1:p.Trp225Gly, XP_047300854.1:p.Trp225Gly, XP_047300856.1:p.Trp225Gly, XP_047300858.1:p.Trp67Gly, XP_047300857.1:p.Trp160Gly

                  9.

                  rs1462571768 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    2:88175311 (GRCh38)
                    2:88474830 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:88175310:A:G
                    Gene:
                    THNSL2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.88175311A>G, NC_000002.11:g.88474830A>G, NG_030037.1:g.10017A>G, NM_018271.5:c.481A>G, NM_018271.4:c.481A>G, NM_001244676.2:c.481A>G, NM_001244676.1:c.481A>G, NM_001244678.2:c.7A>G, NM_001244678.1:c.7A>G, NM_001384383.1:c.481A>G, NM_001384382.1:c.7A>G, XM_005264401.6:c.481A>G, XM_005264401.5:c.481A>G, XM_005264401.4:c.481A>G, XM_005264401.3:c.481A>G, XM_005264401.2:c.481A>G, XM_005264401.1:c.481A>G, XM_006712041.4:c.481A>G, XM_006712041.3:c.481A>G, XM_006712041.2:c.481A>G, XM_006712041.1:c.481A>G, XM_006712044.4:c.481A>G, XM_006712044.3:c.481A>G, XM_006712044.2:c.481A>G, XM_006712044.1:c.481A>G, XM_005264402.4:c.481A>G, XM_005264402.3:c.481A>G, XM_005264402.2:c.481A>G, XM_005264402.1:c.481A>G, XM_006712042.4:c.481A>G, XM_006712042.3:c.481A>G, XM_006712042.2:c.481A>G, XM_006712042.1:c.481A>G, XM_011532954.3:c.286A>G, XM_011532954.2:c.286A>G, XM_011532954.1:c.286A>G, XM_011532953.3:c.481A>G, XM_011532953.2:c.481A>G, XM_011532953.1:c.481A>G, XM_006712043.3:c.481A>G, XM_006712043.2:c.481A>G, XM_006712043.1:c.481A>G, XM_011532955.3:c.7A>G, XM_011532955.2:c.7A>G, XM_011532955.1:c.7A>G, XM_024452975.2:c.481A>G, XM_024452975.1:c.481A>G, XM_047444899.1:c.481A>G, XM_047444896.1:c.481A>G, XM_047444898.1:c.481A>G, XM_047444900.1:c.481A>G, XM_047444902.1:c.7A>G, XM_047444901.1:c.286A>G, NP_060741.3:p.Ile161Val, NP_001231605.1:p.Ile161Val, NP_001231607.1:p.Ile3Val, NP_001371312.1:p.Ile161Val, NP_001371311.1:p.Ile3Val, XP_005264458.1:p.Ile161Val, XP_006712104.1:p.Ile161Val, XP_006712107.1:p.Ile161Val, XP_005264459.1:p.Ile161Val, XP_006712105.1:p.Ile161Val, XP_011531256.1:p.Ile96Val, XP_011531255.1:p.Ile161Val, XP_006712106.1:p.Ile161Val, XP_011531257.1:p.Ile3Val, XP_024308743.1:p.Ile161Val, XP_047300855.1:p.Ile161Val, XP_047300852.1:p.Ile161Val, XP_047300854.1:p.Ile161Val, XP_047300856.1:p.Ile161Val, XP_047300858.1:p.Ile3Val, XP_047300857.1:p.Ile96Val

                    10.

                    rs1462417775 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:88182788 (GRCh38)
                      2:88482307 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:88182787:G:A
                      Gene:
                      THNSL2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      A=0.000016/4 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.88182788G>A, NC_000002.11:g.88482307G>A, NG_030037.1:g.17494G>A, NM_018271.5:c.892G>A, NM_018271.4:c.892G>A, NM_001244676.2:c.892G>A, NM_001244676.1:c.892G>A, NM_001244678.2:c.418G>A, NM_001244678.1:c.418G>A, NM_001384383.1:c.892G>A, NM_001384382.1:c.418G>A, XM_005264401.6:c.892G>A, XM_005264401.5:c.892G>A, XM_005264401.4:c.892G>A, XM_005264401.3:c.892G>A, XM_005264401.2:c.892G>A, XM_005264401.1:c.892G>A, XM_006712041.4:c.892G>A, XM_006712041.3:c.892G>A, XM_006712041.2:c.892G>A, XM_006712041.1:c.892G>A, XM_005264402.4:c.892G>A, XM_005264402.3:c.892G>A, XM_005264402.2:c.892G>A, XM_005264402.1:c.892G>A, XM_006712042.4:c.892G>A, XM_006712042.3:c.892G>A, XM_006712042.2:c.892G>A, XM_006712042.1:c.892G>A, XM_011532954.3:c.697G>A, XM_011532954.2:c.697G>A, XM_011532954.1:c.697G>A, XM_011532953.3:c.892G>A, XM_011532953.2:c.892G>A, XM_011532953.1:c.892G>A, XM_006712043.3:c.892G>A, XM_006712043.2:c.892G>A, XM_006712043.1:c.892G>A, XM_011532955.3:c.418G>A, XM_011532955.2:c.418G>A, XM_011532955.1:c.418G>A, XM_024452975.2:c.892G>A, XM_024452975.1:c.892G>A, XM_047444899.1:c.892G>A, XM_047444896.1:c.892G>A, XM_047444898.1:c.892G>A, XM_047444900.1:c.892G>A, XM_047444902.1:c.418G>A, XM_047444901.1:c.697G>A, NP_060741.3:p.Gly298Arg, NP_001231605.1:p.Gly298Arg, NP_001231607.1:p.Gly140Arg, NP_001371312.1:p.Gly298Arg, NP_001371311.1:p.Gly140Arg, XP_005264458.1:p.Gly298Arg, XP_006712104.1:p.Gly298Arg, XP_005264459.1:p.Gly298Arg, XP_006712105.1:p.Gly298Arg, XP_011531256.1:p.Gly233Arg, XP_011531255.1:p.Gly298Arg, XP_006712106.1:p.Gly298Arg, XP_011531257.1:p.Gly140Arg, XP_024308743.1:p.Gly298Arg, XP_047300855.1:p.Gly298Arg, XP_047300852.1:p.Gly298Arg, XP_047300854.1:p.Gly298Arg, XP_047300856.1:p.Gly298Arg, XP_047300858.1:p.Gly140Arg, XP_047300857.1:p.Gly233Arg

                      11.

                      rs1461003568 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:88178836 (GRCh38)
                        2:88478355 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:88178835:G:A
                        Gene:
                        THNSL2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000051/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000012/3 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.88178836G>A, NC_000002.11:g.88478355G>A, NG_030037.1:g.13542G>A, NM_018271.5:c.625G>A, NM_018271.4:c.625G>A, NM_001244676.2:c.625G>A, NM_001244676.1:c.625G>A, NM_001244678.2:c.151G>A, NM_001244678.1:c.151G>A, NM_001384383.1:c.625G>A, NM_001384382.1:c.151G>A, XM_005264401.6:c.625G>A, XM_005264401.5:c.625G>A, XM_005264401.4:c.625G>A, XM_005264401.3:c.625G>A, XM_005264401.2:c.625G>A, XM_005264401.1:c.625G>A, XM_006712041.4:c.625G>A, XM_006712041.3:c.625G>A, XM_006712041.2:c.625G>A, XM_006712041.1:c.625G>A, XM_006712044.4:c.625G>A, XM_006712044.3:c.625G>A, XM_006712044.2:c.625G>A, XM_006712044.1:c.625G>A, XM_005264402.4:c.625G>A, XM_005264402.3:c.625G>A, XM_005264402.2:c.625G>A, XM_005264402.1:c.625G>A, XM_006712042.4:c.625G>A, XM_006712042.3:c.625G>A, XM_006712042.2:c.625G>A, XM_006712042.1:c.625G>A, XM_011532954.3:c.430G>A, XM_011532954.2:c.430G>A, XM_011532954.1:c.430G>A, XM_011532953.3:c.625G>A, XM_011532953.2:c.625G>A, XM_011532953.1:c.625G>A, XM_006712043.3:c.625G>A, XM_006712043.2:c.625G>A, XM_006712043.1:c.625G>A, XM_011532955.3:c.151G>A, XM_011532955.2:c.151G>A, XM_011532955.1:c.151G>A, XM_024452975.2:c.625G>A, XM_024452975.1:c.625G>A, XM_047444899.1:c.625G>A, XM_047444896.1:c.625G>A, XM_047444898.1:c.625G>A, XM_047444900.1:c.625G>A, XM_047444902.1:c.151G>A, XM_047444901.1:c.430G>A, NP_060741.3:p.Val209Met, NP_001231605.1:p.Val209Met, NP_001231607.1:p.Val51Met, NP_001371312.1:p.Val209Met, NP_001371311.1:p.Val51Met, XP_005264458.1:p.Val209Met, XP_006712104.1:p.Val209Met, XP_006712107.1:p.Val209Met, XP_005264459.1:p.Val209Met, XP_006712105.1:p.Val209Met, XP_011531256.1:p.Val144Met, XP_011531255.1:p.Val209Met, XP_006712106.1:p.Val209Met, XP_011531257.1:p.Val51Met, XP_024308743.1:p.Val209Met, XP_047300855.1:p.Val209Met, XP_047300852.1:p.Val209Met, XP_047300854.1:p.Val209Met, XP_047300856.1:p.Val209Met, XP_047300858.1:p.Val51Met, XP_047300857.1:p.Val144Met

                        12.

                        rs1458247241 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:88185924 (GRCh38)
                          2:88485443 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:88185923:C:T
                          Gene:
                          THNSL2 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                          HGVS:
                          NC_000002.12:g.88185924C>T, NC_000002.11:g.88485443C>T, NG_030037.1:g.20630C>T, NM_018271.5:c.1256C>T, NM_018271.4:c.1256C>T, NM_001244676.2:c.*60C>T, NM_001244676.1:c.*60C>T, NM_001244678.2:c.630C>T, NM_001244678.1:c.630C>T, NM_001384383.1:c.1104C>T, NM_001384382.1:c.630C>T, XM_005264401.6:c.1256C>T, XM_005264401.5:c.1256C>T, XM_005264401.4:c.1256C>T, XM_005264401.3:c.1256C>T, XM_005264401.2:c.1256C>T, XM_005264401.1:c.1256C>T, XM_006712044.4:c.829C>T, XM_006712044.3:c.829C>T, XM_006712044.2:c.829C>T, XM_006712044.1:c.829C>T, XM_011532954.3:c.1061C>T, XM_011532954.2:c.1061C>T, XM_011532954.1:c.1061C>T, XM_011532955.3:c.782C>T, XM_011532955.2:c.782C>T, XM_011532955.1:c.782C>T, XM_024452975.2:c.1256C>T, XM_024452975.1:c.1256C>T, XM_047444896.1:c.1256C>T, XM_047444898.1:c.1104C>T, XM_047444901.1:c.909C>T, NP_060741.3:p.Ala419Val, XP_005264458.1:p.Ala419Val, XP_006712107.1:p.Pro277Ser, XP_011531256.1:p.Ala354Val, XP_011531257.1:p.Ala261Val, XP_024308743.1:p.Ala419Val, XP_047300852.1:p.Ala419Val

                          13.

                          rs1456440217 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            2:88178817 (GRCh38)
                            2:88478336 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:88178816:C:A
                            Gene:
                            THNSL2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000094/3 (ALFA)
                            A=0.000012/3 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.88178817C>A, NC_000002.11:g.88478336C>A, NG_030037.1:g.13523C>A, NM_018271.5:c.606C>A, NM_018271.4:c.606C>A, NM_001244676.2:c.606C>A, NM_001244676.1:c.606C>A, NM_001244678.2:c.132C>A, NM_001244678.1:c.132C>A, NM_001384383.1:c.606C>A, NM_001384382.1:c.132C>A, XM_005264401.6:c.606C>A, XM_005264401.5:c.606C>A, XM_005264401.4:c.606C>A, XM_005264401.3:c.606C>A, XM_005264401.2:c.606C>A, XM_005264401.1:c.606C>A, XM_006712041.4:c.606C>A, XM_006712041.3:c.606C>A, XM_006712041.2:c.606C>A, XM_006712041.1:c.606C>A, XM_006712044.4:c.606C>A, XM_006712044.3:c.606C>A, XM_006712044.2:c.606C>A, XM_006712044.1:c.606C>A, XM_005264402.4:c.606C>A, XM_005264402.3:c.606C>A, XM_005264402.2:c.606C>A, XM_005264402.1:c.606C>A, XM_006712042.4:c.606C>A, XM_006712042.3:c.606C>A, XM_006712042.2:c.606C>A, XM_006712042.1:c.606C>A, XM_011532954.3:c.411C>A, XM_011532954.2:c.411C>A, XM_011532954.1:c.411C>A, XM_011532953.3:c.606C>A, XM_011532953.2:c.606C>A, XM_011532953.1:c.606C>A, XM_006712043.3:c.606C>A, XM_006712043.2:c.606C>A, XM_006712043.1:c.606C>A, XM_011532955.3:c.132C>A, XM_011532955.2:c.132C>A, XM_011532955.1:c.132C>A, XM_024452975.2:c.606C>A, XM_024452975.1:c.606C>A, XM_047444899.1:c.606C>A, XM_047444896.1:c.606C>A, XM_047444898.1:c.606C>A, XM_047444900.1:c.606C>A, XM_047444902.1:c.132C>A, XM_047444901.1:c.411C>A

                            14.

                            rs1453531854 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              2:88185916 (GRCh38)
                              2:88485435 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:88185915:C:G,NC_000002.12:88185915:C:T
                              Gene:
                              THNSL2 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0./0 (GnomAD)
                              G=0.000004/1 (GnomAD_exomes)
                              T=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000002.12:g.88185916C>G, NC_000002.12:g.88185916C>T, NC_000002.11:g.88485435C>G, NC_000002.11:g.88485435C>T, NG_030037.1:g.20622C>G, NG_030037.1:g.20622C>T, NM_018271.5:c.1248C>G, NM_018271.5:c.1248C>T, NM_018271.4:c.1248C>G, NM_018271.4:c.1248C>T, NM_001244676.2:c.*52C>G, NM_001244676.2:c.*52C>T, NM_001244676.1:c.*52C>G, NM_001244676.1:c.*52C>T, NM_001244678.2:c.622C>G, NM_001244678.2:c.622C>T, NM_001244678.1:c.622C>G, NM_001244678.1:c.622C>T, NM_001384383.1:c.1096C>G, NM_001384383.1:c.1096C>T, NM_001384382.1:c.622C>G, NM_001384382.1:c.622C>T, XM_005264401.6:c.1248C>G, XM_005264401.6:c.1248C>T, XM_005264401.5:c.1248C>G, XM_005264401.5:c.1248C>T, XM_005264401.4:c.1248C>G, XM_005264401.4:c.1248C>T, XM_005264401.3:c.1248C>G, XM_005264401.3:c.1248C>T, XM_005264401.2:c.1248C>G, XM_005264401.2:c.1248C>T, XM_005264401.1:c.1248C>G, XM_005264401.1:c.1248C>T, XM_006712044.4:c.821C>G, XM_006712044.4:c.821C>T, XM_006712044.3:c.821C>G, XM_006712044.3:c.821C>T, XM_006712044.2:c.821C>G, XM_006712044.2:c.821C>T, XM_006712044.1:c.821C>G, XM_006712044.1:c.821C>T, XM_011532954.3:c.1053C>G, XM_011532954.3:c.1053C>T, XM_011532954.2:c.1053C>G, XM_011532954.2:c.1053C>T, XM_011532954.1:c.1053C>G, XM_011532954.1:c.1053C>T, XM_011532955.3:c.774C>G, XM_011532955.3:c.774C>T, XM_011532955.2:c.774C>G, XM_011532955.2:c.774C>T, XM_011532955.1:c.774C>G, XM_011532955.1:c.774C>T, XM_024452975.2:c.1248C>G, XM_024452975.2:c.1248C>T, XM_024452975.1:c.1248C>G, XM_024452975.1:c.1248C>T, XM_047444896.1:c.1248C>G, XM_047444896.1:c.1248C>T, XM_047444898.1:c.1096C>G, XM_047444898.1:c.1096C>T, XM_047444901.1:c.901C>G, XM_047444901.1:c.901C>T, NP_001231607.1:p.Arg208Gly, NP_001231607.1:p.Arg208Cys, NP_001371312.1:p.Arg366Gly, NP_001371312.1:p.Arg366Cys, NP_001371311.1:p.Arg208Gly, NP_001371311.1:p.Arg208Cys, XP_006712107.1:p.Ser274Trp, XP_006712107.1:p.Ser274Leu, XP_047300854.1:p.Arg366Gly, XP_047300854.1:p.Arg366Cys, XP_047300857.1:p.Arg301Gly, XP_047300857.1:p.Arg301Cys

                              15.

                              rs1446816616 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:88182989 (GRCh38)
                                2:88482508 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:88182988:C:T
                                Gene:
                                THNSL2 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000007/1 (GnomAD)
                                T=0.004717/1 (Vietnamese)
                                HGVS:
                                NC_000002.12:g.88182989C>T, NC_000002.11:g.88482508C>T, NG_030037.1:g.17695C>T, NM_018271.5:c.993C>T, NM_018271.4:c.993C>T, NM_001244676.2:c.993C>T, NM_001244676.1:c.993C>T, NM_001244678.2:c.519C>T, NM_001244678.1:c.519C>T, NM_001384383.1:c.993C>T, NM_001384382.1:c.519C>T, XM_005264401.6:c.993C>T, XM_005264401.5:c.993C>T, XM_005264401.4:c.993C>T, XM_005264401.3:c.993C>T, XM_005264401.2:c.993C>T, XM_005264401.1:c.993C>T, XM_006712041.4:c.993C>T, XM_006712041.3:c.993C>T, XM_006712041.2:c.993C>T, XM_006712041.1:c.993C>T, XM_005264402.4:c.993C>T, XM_005264402.3:c.993C>T, XM_005264402.2:c.993C>T, XM_005264402.1:c.993C>T, XM_006712042.4:c.993C>T, XM_006712042.3:c.993C>T, XM_006712042.2:c.993C>T, XM_006712042.1:c.993C>T, XM_011532954.3:c.798C>T, XM_011532954.2:c.798C>T, XM_011532954.1:c.798C>T, XM_011532953.3:c.993C>T, XM_011532953.2:c.993C>T, XM_011532953.1:c.993C>T, XM_006712043.3:c.993C>T, XM_006712043.2:c.993C>T, XM_006712043.1:c.993C>T, XM_011532955.3:c.519C>T, XM_011532955.2:c.519C>T, XM_011532955.1:c.519C>T, XM_024452975.2:c.993C>T, XM_024452975.1:c.993C>T, XM_047444899.1:c.993C>T, XM_047444896.1:c.993C>T, XM_047444898.1:c.993C>T, XM_047444900.1:c.993C>T, XM_047444902.1:c.519C>T, XM_047444901.1:c.798C>T

                                16.

                                rs1445724684 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:88178902 (GRCh38)
                                  2:88478421 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:88178901:C:T
                                  Gene:
                                  THNSL2 (Varview)
                                  Functional Consequence:
                                  stop_gained,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.88178902C>T, NC_000002.11:g.88478421C>T, NG_030037.1:g.13608C>T, NM_018271.5:c.691C>T, NM_018271.4:c.691C>T, NM_001244676.2:c.691C>T, NM_001244676.1:c.691C>T, NM_001244678.2:c.217C>T, NM_001244678.1:c.217C>T, NM_001384383.1:c.691C>T, NM_001384382.1:c.217C>T, XM_005264401.6:c.691C>T, XM_005264401.5:c.691C>T, XM_005264401.4:c.691C>T, XM_005264401.3:c.691C>T, XM_005264401.2:c.691C>T, XM_005264401.1:c.691C>T, XM_006712041.4:c.691C>T, XM_006712041.3:c.691C>T, XM_006712041.2:c.691C>T, XM_006712041.1:c.691C>T, XM_006712044.4:c.691C>T, XM_006712044.3:c.691C>T, XM_006712044.2:c.691C>T, XM_006712044.1:c.691C>T, XM_005264402.4:c.691C>T, XM_005264402.3:c.691C>T, XM_005264402.2:c.691C>T, XM_005264402.1:c.691C>T, XM_006712042.4:c.691C>T, XM_006712042.3:c.691C>T, XM_006712042.2:c.691C>T, XM_006712042.1:c.691C>T, XM_011532954.3:c.496C>T, XM_011532954.2:c.496C>T, XM_011532954.1:c.496C>T, XM_011532953.3:c.691C>T, XM_011532953.2:c.691C>T, XM_011532953.1:c.691C>T, XM_006712043.3:c.691C>T, XM_006712043.2:c.691C>T, XM_006712043.1:c.691C>T, XM_011532955.3:c.217C>T, XM_011532955.2:c.217C>T, XM_011532955.1:c.217C>T, XM_024452975.2:c.691C>T, XM_024452975.1:c.691C>T, XM_047444899.1:c.691C>T, XM_047444896.1:c.691C>T, XM_047444898.1:c.691C>T, XM_047444900.1:c.691C>T, XM_047444902.1:c.217C>T, XM_047444901.1:c.496C>T, NP_060741.3:p.Gln231Ter, NP_001231605.1:p.Gln231Ter, NP_001231607.1:p.Gln73Ter, NP_001371312.1:p.Gln231Ter, NP_001371311.1:p.Gln73Ter, XP_005264458.1:p.Gln231Ter, XP_006712104.1:p.Gln231Ter, XP_006712107.1:p.Gln231Ter, XP_005264459.1:p.Gln231Ter, XP_006712105.1:p.Gln231Ter, XP_011531256.1:p.Gln166Ter, XP_011531255.1:p.Gln231Ter, XP_006712106.1:p.Gln231Ter, XP_011531257.1:p.Gln73Ter, XP_024308743.1:p.Gln231Ter, XP_047300855.1:p.Gln231Ter, XP_047300852.1:p.Gln231Ter, XP_047300854.1:p.Gln231Ter, XP_047300856.1:p.Gln231Ter, XP_047300858.1:p.Gln73Ter, XP_047300857.1:p.Gln166Ter

                                  17.

                                  rs1429680047 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    2:88178858 (GRCh38)
                                    2:88478377 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:88178857:A:C,NC_000002.12:88178857:A:G
                                    Gene:
                                    THNSL2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000035/1 (TOMMO)
                                    HGVS:
                                    NC_000002.12:g.88178858A>C, NC_000002.12:g.88178858A>G, NC_000002.11:g.88478377A>C, NC_000002.11:g.88478377A>G, NG_030037.1:g.13564A>C, NG_030037.1:g.13564A>G, NM_018271.5:c.647A>C, NM_018271.5:c.647A>G, NM_018271.4:c.647A>C, NM_018271.4:c.647A>G, NM_001244676.2:c.647A>C, NM_001244676.2:c.647A>G, NM_001244676.1:c.647A>C, NM_001244676.1:c.647A>G, NM_001244678.2:c.173A>C, NM_001244678.2:c.173A>G, NM_001244678.1:c.173A>C, NM_001244678.1:c.173A>G, NM_001384383.1:c.647A>C, NM_001384383.1:c.647A>G, NM_001384382.1:c.173A>C, NM_001384382.1:c.173A>G, XM_005264401.6:c.647A>C, XM_005264401.6:c.647A>G, XM_005264401.5:c.647A>C, XM_005264401.5:c.647A>G, XM_005264401.4:c.647A>C, XM_005264401.4:c.647A>G, XM_005264401.3:c.647A>C, XM_005264401.3:c.647A>G, XM_005264401.2:c.647A>C, XM_005264401.2:c.647A>G, XM_005264401.1:c.647A>C, XM_005264401.1:c.647A>G, XM_006712041.4:c.647A>C, XM_006712041.4:c.647A>G, XM_006712041.3:c.647A>C, XM_006712041.3:c.647A>G, XM_006712041.2:c.647A>C, XM_006712041.2:c.647A>G, XM_006712041.1:c.647A>C, XM_006712041.1:c.647A>G, XM_006712044.4:c.647A>C, XM_006712044.4:c.647A>G, XM_006712044.3:c.647A>C, XM_006712044.3:c.647A>G, XM_006712044.2:c.647A>C, XM_006712044.2:c.647A>G, XM_006712044.1:c.647A>C, XM_006712044.1:c.647A>G, XM_005264402.4:c.647A>C, XM_005264402.4:c.647A>G, XM_005264402.3:c.647A>C, XM_005264402.3:c.647A>G, XM_005264402.2:c.647A>C, XM_005264402.2:c.647A>G, XM_005264402.1:c.647A>C, XM_005264402.1:c.647A>G, XM_006712042.4:c.647A>C, XM_006712042.4:c.647A>G, XM_006712042.3:c.647A>C, XM_006712042.3:c.647A>G, XM_006712042.2:c.647A>C, XM_006712042.2:c.647A>G, XM_006712042.1:c.647A>C, XM_006712042.1:c.647A>G, XM_011532954.3:c.452A>C, XM_011532954.3:c.452A>G, XM_011532954.2:c.452A>C, XM_011532954.2:c.452A>G, XM_011532954.1:c.452A>C, XM_011532954.1:c.452A>G, XM_011532953.3:c.647A>C, XM_011532953.3:c.647A>G, XM_011532953.2:c.647A>C, XM_011532953.2:c.647A>G, XM_011532953.1:c.647A>C, XM_011532953.1:c.647A>G, XM_006712043.3:c.647A>C, XM_006712043.3:c.647A>G, XM_006712043.2:c.647A>C, XM_006712043.2:c.647A>G, XM_006712043.1:c.647A>C, XM_006712043.1:c.647A>G, XM_011532955.3:c.173A>C, XM_011532955.3:c.173A>G, XM_011532955.2:c.173A>C, XM_011532955.2:c.173A>G, XM_011532955.1:c.173A>C, XM_011532955.1:c.173A>G, XM_024452975.2:c.647A>C, XM_024452975.2:c.647A>G, XM_024452975.1:c.647A>C, XM_024452975.1:c.647A>G, XM_047444899.1:c.647A>C, XM_047444899.1:c.647A>G, XM_047444896.1:c.647A>C, XM_047444896.1:c.647A>G, XM_047444898.1:c.647A>C, XM_047444898.1:c.647A>G, XM_047444900.1:c.647A>C, XM_047444900.1:c.647A>G, XM_047444902.1:c.173A>C, XM_047444902.1:c.173A>G, XM_047444901.1:c.452A>C, XM_047444901.1:c.452A>G, NP_060741.3:p.Asn216Thr, NP_060741.3:p.Asn216Ser, NP_001231605.1:p.Asn216Thr, NP_001231605.1:p.Asn216Ser, NP_001231607.1:p.Asn58Thr, NP_001231607.1:p.Asn58Ser, NP_001371312.1:p.Asn216Thr, NP_001371312.1:p.Asn216Ser, NP_001371311.1:p.Asn58Thr, NP_001371311.1:p.Asn58Ser, XP_005264458.1:p.Asn216Thr, XP_005264458.1:p.Asn216Ser, XP_006712104.1:p.Asn216Thr, XP_006712104.1:p.Asn216Ser, XP_006712107.1:p.Asn216Thr, XP_006712107.1:p.Asn216Ser, XP_005264459.1:p.Asn216Thr, XP_005264459.1:p.Asn216Ser, XP_006712105.1:p.Asn216Thr, XP_006712105.1:p.Asn216Ser, XP_011531256.1:p.Asn151Thr, XP_011531256.1:p.Asn151Ser, XP_011531255.1:p.Asn216Thr, XP_011531255.1:p.Asn216Ser, XP_006712106.1:p.Asn216Thr, XP_006712106.1:p.Asn216Ser, XP_011531257.1:p.Asn58Thr, XP_011531257.1:p.Asn58Ser, XP_024308743.1:p.Asn216Thr, XP_024308743.1:p.Asn216Ser, XP_047300855.1:p.Asn216Thr, XP_047300855.1:p.Asn216Ser, XP_047300852.1:p.Asn216Thr, XP_047300852.1:p.Asn216Ser, XP_047300854.1:p.Asn216Thr, XP_047300854.1:p.Asn216Ser, XP_047300856.1:p.Asn216Thr, XP_047300856.1:p.Asn216Ser, XP_047300858.1:p.Asn58Thr, XP_047300858.1:p.Asn58Ser, XP_047300857.1:p.Asn151Thr, XP_047300857.1:p.Asn151Ser

                                    18.

                                    rs1425708962 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      2:88182806 (GRCh38)
                                      2:88482325 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:88182805:G:C
                                      Gene:
                                      THNSL2 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000002.12:g.88182806G>C, NC_000002.11:g.88482325G>C, NG_030037.1:g.17512G>C, NM_018271.5:c.910G>C, NM_018271.4:c.910G>C, NM_001244676.2:c.910G>C, NM_001244676.1:c.910G>C, NM_001244678.2:c.436G>C, NM_001244678.1:c.436G>C, NM_001384383.1:c.910G>C, NM_001384382.1:c.436G>C, XM_005264401.6:c.910G>C, XM_005264401.5:c.910G>C, XM_005264401.4:c.910G>C, XM_005264401.3:c.910G>C, XM_005264401.2:c.910G>C, XM_005264401.1:c.910G>C, XM_006712041.4:c.910G>C, XM_006712041.3:c.910G>C, XM_006712041.2:c.910G>C, XM_006712041.1:c.910G>C, XM_005264402.4:c.910G>C, XM_005264402.3:c.910G>C, XM_005264402.2:c.910G>C, XM_005264402.1:c.910G>C, XM_006712042.4:c.910G>C, XM_006712042.3:c.910G>C, XM_006712042.2:c.910G>C, XM_006712042.1:c.910G>C, XM_011532954.3:c.715G>C, XM_011532954.2:c.715G>C, XM_011532954.1:c.715G>C, XM_011532953.3:c.910G>C, XM_011532953.2:c.910G>C, XM_011532953.1:c.910G>C, XM_006712043.3:c.910G>C, XM_006712043.2:c.910G>C, XM_006712043.1:c.910G>C, XM_011532955.3:c.436G>C, XM_011532955.2:c.436G>C, XM_011532955.1:c.436G>C, XM_024452975.2:c.910G>C, XM_024452975.1:c.910G>C, XM_047444899.1:c.910G>C, XM_047444896.1:c.910G>C, XM_047444898.1:c.910G>C, XM_047444900.1:c.910G>C, XM_047444902.1:c.436G>C, XM_047444901.1:c.715G>C, NP_060741.3:p.Glu304Gln, NP_001231605.1:p.Glu304Gln, NP_001231607.1:p.Glu146Gln, NP_001371312.1:p.Glu304Gln, NP_001371311.1:p.Glu146Gln, XP_005264458.1:p.Glu304Gln, XP_006712104.1:p.Glu304Gln, XP_005264459.1:p.Glu304Gln, XP_006712105.1:p.Glu304Gln, XP_011531256.1:p.Glu239Gln, XP_011531255.1:p.Glu304Gln, XP_006712106.1:p.Glu304Gln, XP_011531257.1:p.Glu146Gln, XP_024308743.1:p.Glu304Gln, XP_047300855.1:p.Glu304Gln, XP_047300852.1:p.Glu304Gln, XP_047300854.1:p.Glu304Gln, XP_047300856.1:p.Glu304Gln, XP_047300858.1:p.Glu146Gln, XP_047300857.1:p.Glu239Gln

                                      19.

                                      rs1421063738 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:88182950 (GRCh38)
                                        2:88482469 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:88182949:G:A
                                        Gene:
                                        THNSL2 (Varview)
                                        Functional Consequence:
                                        intron_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000084/1 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.88182950G>A, NC_000002.11:g.88482469G>A, NG_030037.1:g.17656G>A, NM_018271.5:c.954G>A, NM_018271.4:c.954G>A, NM_001244676.2:c.954G>A, NM_001244676.1:c.954G>A, NM_001244678.2:c.480G>A, NM_001244678.1:c.480G>A, NM_001384383.1:c.954G>A, NM_001384382.1:c.480G>A, XM_005264401.6:c.954G>A, XM_005264401.5:c.954G>A, XM_005264401.4:c.954G>A, XM_005264401.3:c.954G>A, XM_005264401.2:c.954G>A, XM_005264401.1:c.954G>A, XM_006712041.4:c.954G>A, XM_006712041.3:c.954G>A, XM_006712041.2:c.954G>A, XM_006712041.1:c.954G>A, XM_005264402.4:c.954G>A, XM_005264402.3:c.954G>A, XM_005264402.2:c.954G>A, XM_005264402.1:c.954G>A, XM_006712042.4:c.954G>A, XM_006712042.3:c.954G>A, XM_006712042.2:c.954G>A, XM_006712042.1:c.954G>A, XM_011532954.3:c.759G>A, XM_011532954.2:c.759G>A, XM_011532954.1:c.759G>A, XM_011532953.3:c.954G>A, XM_011532953.2:c.954G>A, XM_011532953.1:c.954G>A, XM_006712043.3:c.954G>A, XM_006712043.2:c.954G>A, XM_006712043.1:c.954G>A, XM_011532955.3:c.480G>A, XM_011532955.2:c.480G>A, XM_011532955.1:c.480G>A, XM_024452975.2:c.954G>A, XM_024452975.1:c.954G>A, XM_047444899.1:c.954G>A, XM_047444896.1:c.954G>A, XM_047444898.1:c.954G>A, XM_047444900.1:c.954G>A, XM_047444902.1:c.480G>A, XM_047444901.1:c.759G>A

                                        20.

                                        rs1417976400 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:88182773 (GRCh38)
                                          2:88482292 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:88182772:A:G
                                          Gene:
                                          THNSL2 (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.88182773A>G, NC_000002.11:g.88482292A>G, NG_030037.1:g.17479A>G, NM_018271.5:c.877A>G, NM_018271.4:c.877A>G, NM_001244676.2:c.877A>G, NM_001244676.1:c.877A>G, NM_001244678.2:c.403A>G, NM_001244678.1:c.403A>G, NM_001384383.1:c.877A>G, NM_001384382.1:c.403A>G, XM_005264401.6:c.877A>G, XM_005264401.5:c.877A>G, XM_005264401.4:c.877A>G, XM_005264401.3:c.877A>G, XM_005264401.2:c.877A>G, XM_005264401.1:c.877A>G, XM_006712041.4:c.877A>G, XM_006712041.3:c.877A>G, XM_006712041.2:c.877A>G, XM_006712041.1:c.877A>G, XM_005264402.4:c.877A>G, XM_005264402.3:c.877A>G, XM_005264402.2:c.877A>G, XM_005264402.1:c.877A>G, XM_006712042.4:c.877A>G, XM_006712042.3:c.877A>G, XM_006712042.2:c.877A>G, XM_006712042.1:c.877A>G, XM_011532954.3:c.682A>G, XM_011532954.2:c.682A>G, XM_011532954.1:c.682A>G, XM_011532953.3:c.877A>G, XM_011532953.2:c.877A>G, XM_011532953.1:c.877A>G, XM_006712043.3:c.877A>G, XM_006712043.2:c.877A>G, XM_006712043.1:c.877A>G, XM_011532955.3:c.403A>G, XM_011532955.2:c.403A>G, XM_011532955.1:c.403A>G, XM_024452975.2:c.877A>G, XM_024452975.1:c.877A>G, XM_047444899.1:c.877A>G, XM_047444896.1:c.877A>G, XM_047444898.1:c.877A>G, XM_047444900.1:c.877A>G, XM_047444902.1:c.403A>G, XM_047444901.1:c.682A>G, NP_060741.3:p.Arg293Gly, NP_001231605.1:p.Arg293Gly, NP_001231607.1:p.Arg135Gly, NP_001371312.1:p.Arg293Gly, NP_001371311.1:p.Arg135Gly, XP_005264458.1:p.Arg293Gly, XP_006712104.1:p.Arg293Gly, XP_005264459.1:p.Arg293Gly, XP_006712105.1:p.Arg293Gly, XP_011531256.1:p.Arg228Gly, XP_011531255.1:p.Arg293Gly, XP_006712106.1:p.Arg293Gly, XP_011531257.1:p.Arg135Gly, XP_024308743.1:p.Arg293Gly, XP_047300855.1:p.Arg293Gly, XP_047300852.1:p.Arg293Gly, XP_047300854.1:p.Arg293Gly, XP_047300856.1:p.Arg293Gly, XP_047300858.1:p.Arg135Gly, XP_047300857.1:p.Arg228Gly

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...