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Items: 1 to 20 of 868

1.

rs1488354919 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    17:64212962 (GRCh38)
    17:62290322 (GRCh37)
    Canonical SPDI:
    NC_000017.11:64212961:C:A
    Gene:
    TEX2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000084/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000023/6 (TOPMED)
    HGVS:
    NC_000017.11:g.64212962C>A, NC_000017.10:g.62290322C>A, NW_003315947.1:g.16809C>A, NM_018469.5:c.1256G>T, NM_018469.4:c.1256G>T, NM_018469.3:c.1256G>T, XM_017024847.3:c.1256G>T, XM_017024847.2:c.1256G>T, XM_017024847.1:c.1256G>T, XM_011525000.3:c.1256G>T, XM_011525000.2:c.1256G>T, XM_011525000.1:c.1256G>T, XM_017024846.3:c.1256G>T, XM_017024846.2:c.1256G>T, XM_017024846.1:c.1256G>T, XM_011524998.2:c.1256G>T, XM_011524998.1:c.1256G>T, NM_001288733.2:c.1256G>T, NM_001288733.1:c.1256G>T, NM_001288732.2:c.1256G>T, NM_001288732.1:c.1256G>T, XM_011524999.2:c.1256G>T, XM_011524999.1:c.1256G>T, XM_047436395.1:c.1256G>T, XM_047436393.1:c.1256G>T, XM_047436394.1:c.1256G>T, XM_047436397.1:c.1256G>T, XM_047436396.1:c.1256G>T, XM_047436392.1:c.1256G>T, NP_060939.3:p.Cys419Phe, XP_016880336.1:p.Cys419Phe, XP_011523302.1:p.Cys419Phe, XP_016880335.1:p.Cys419Phe, XP_011523300.1:p.Cys419Phe, NP_001275662.1:p.Cys419Phe, NP_001275661.1:p.Cys419Phe, XP_011523301.1:p.Cys419Phe, XP_047292351.1:p.Cys419Phe, XP_047292349.1:p.Cys419Phe, XP_047292350.1:p.Cys419Phe, XP_047292353.1:p.Cys419Phe, XP_047292352.1:p.Cys419Phe, XP_047292348.1:p.Cys419Phe

    2.

    rs1485148498 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      17:64212747 (GRCh38)
      17:62290107 (GRCh37)
      Canonical SPDI:
      NC_000017.11:64212746:G:A,NC_000017.11:64212746:G:C
      Gene:
      TEX2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      HGVS:
      NC_000017.11:g.64212747G>A, NC_000017.11:g.64212747G>C, NC_000017.10:g.62290107G>A, NC_000017.10:g.62290107G>C, NW_003315947.1:g.16594G>A, NW_003315947.1:g.16594G>C, NM_018469.5:c.1471C>T, NM_018469.5:c.1471C>G, NM_018469.4:c.1471C>T, NM_018469.4:c.1471C>G, NM_018469.3:c.1471C>T, NM_018469.3:c.1471C>G, XM_017024847.3:c.1471C>T, XM_017024847.3:c.1471C>G, XM_017024847.2:c.1471C>T, XM_017024847.2:c.1471C>G, XM_017024847.1:c.1471C>T, XM_017024847.1:c.1471C>G, XM_011525000.3:c.1471C>T, XM_011525000.3:c.1471C>G, XM_011525000.2:c.1471C>T, XM_011525000.2:c.1471C>G, XM_011525000.1:c.1471C>T, XM_011525000.1:c.1471C>G, XM_017024846.3:c.1471C>T, XM_017024846.3:c.1471C>G, XM_017024846.2:c.1471C>T, XM_017024846.2:c.1471C>G, XM_017024846.1:c.1471C>T, XM_017024846.1:c.1471C>G, XM_011524998.2:c.1471C>T, XM_011524998.2:c.1471C>G, XM_011524998.1:c.1471C>T, XM_011524998.1:c.1471C>G, NM_001288733.2:c.1471C>T, NM_001288733.2:c.1471C>G, NM_001288733.1:c.1471C>T, NM_001288733.1:c.1471C>G, NM_001288732.2:c.1471C>T, NM_001288732.2:c.1471C>G, NM_001288732.1:c.1471C>T, NM_001288732.1:c.1471C>G, XM_011524999.2:c.1471C>T, XM_011524999.2:c.1471C>G, XM_011524999.1:c.1471C>T, XM_011524999.1:c.1471C>G, XM_047436395.1:c.1471C>T, XM_047436395.1:c.1471C>G, XM_047436393.1:c.1471C>T, XM_047436393.1:c.1471C>G, XM_047436394.1:c.1471C>T, XM_047436394.1:c.1471C>G, XM_047436397.1:c.1471C>T, XM_047436397.1:c.1471C>G, XM_047436396.1:c.1471C>T, XM_047436396.1:c.1471C>G, XM_047436392.1:c.1471C>T, XM_047436392.1:c.1471C>G, NP_060939.3:p.Leu491Phe, NP_060939.3:p.Leu491Val, XP_016880336.1:p.Leu491Phe, XP_016880336.1:p.Leu491Val, XP_011523302.1:p.Leu491Phe, XP_011523302.1:p.Leu491Val, XP_016880335.1:p.Leu491Phe, XP_016880335.1:p.Leu491Val, XP_011523300.1:p.Leu491Phe, XP_011523300.1:p.Leu491Val, NP_001275662.1:p.Leu491Phe, NP_001275662.1:p.Leu491Val, NP_001275661.1:p.Leu491Phe, NP_001275661.1:p.Leu491Val, XP_011523301.1:p.Leu491Phe, XP_011523301.1:p.Leu491Val, XP_047292351.1:p.Leu491Phe, XP_047292351.1:p.Leu491Val, XP_047292349.1:p.Leu491Phe, XP_047292349.1:p.Leu491Val, XP_047292350.1:p.Leu491Phe, XP_047292350.1:p.Leu491Val, XP_047292353.1:p.Leu491Phe, XP_047292353.1:p.Leu491Val, XP_047292352.1:p.Leu491Phe, XP_047292352.1:p.Leu491Val, XP_047292348.1:p.Leu491Phe, XP_047292348.1:p.Leu491Val

      3.

      rs1485039898 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        17:64150897 (GRCh38)
        17:62228257 (GRCh37)
        Canonical SPDI:
        NC_000017.11:64150896:C:A
        Gene:
        TEX2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000017.11:g.64150897C>A, NC_000017.10:g.62228257C>A, NM_018469.5:c.3226G>T, NM_018469.4:c.3226G>T, NM_018469.3:c.3226G>T, XM_011525000.3:c.3220G>T, XM_011525000.2:c.3220G>T, XM_011525000.1:c.3220G>T, XM_017024846.3:c.3199G>T, XM_017024846.2:c.3199G>T, XM_017024846.1:c.3199G>T, XM_011524998.2:c.3226G>T, XM_011524998.1:c.3226G>T, NM_001288733.2:c.3205G>T, NM_001288733.1:c.3205G>T, NM_001288732.2:c.3205G>T, NM_001288732.1:c.3205G>T, XM_011524999.2:c.3226G>T, XM_011524999.1:c.3226G>T, XM_047436395.1:c.3205G>T, XM_047436393.1:c.3226G>T, XM_047436394.1:c.3205G>T, XM_047436397.1:c.3199G>T, XM_047436396.1:c.3205G>T, XM_047436392.1:c.3226G>T, NP_060939.3:p.Val1076Leu, XP_011523302.1:p.Val1074Leu, XP_016880335.1:p.Val1067Leu, XP_011523300.1:p.Val1076Leu, NP_001275662.1:p.Val1069Leu, NP_001275661.1:p.Val1069Leu, XP_011523301.1:p.Val1076Leu, XP_047292351.1:p.Val1069Leu, XP_047292349.1:p.Val1076Leu, XP_047292350.1:p.Val1069Leu, XP_047292353.1:p.Val1067Leu, XP_047292352.1:p.Val1069Leu, XP_047292348.1:p.Val1076Leu

        4.

        rs1483880088 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AA>- [Show Flanks]
          Chromosome:
          17:64153087 (GRCh38)
          17:62230447 (GRCh37)
          Canonical SPDI:
          NC_000017.11:64153085:AAA:A
          Gene:
          TEX2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          HGVS:
          NC_000017.11:g.64153087_64153088del, NC_000017.10:g.62230447_62230448del, NM_018469.5:c.3019_3020del, NM_018469.4:c.3019_3020del, NM_018469.3:c.3019_3020del, XM_011525000.3:c.3013_3014del, XM_011525000.2:c.3013_3014del, XM_011525000.1:c.3013_3014del, XM_017024846.3:c.2992_2993del, XM_017024846.2:c.2992_2993del, XM_017024846.1:c.2992_2993del, XM_011524998.2:c.3019_3020del, XM_011524998.1:c.3019_3020del, NM_001288733.2:c.2998_2999del, NM_001288733.1:c.2998_2999del, NM_001288732.2:c.2998_2999del, NM_001288732.1:c.2998_2999del, XM_011524999.2:c.3019_3020del, XM_011524999.1:c.3019_3020del, XM_047436395.1:c.2998_2999del, XM_047436393.1:c.3019_3020del, XM_047436394.1:c.2998_2999del, XM_047436397.1:c.2992_2993del, XM_047436396.1:c.2998_2999del, XM_047436392.1:c.3019_3020del, NP_060939.3:p.Phe1007fs, XP_011523302.1:p.Phe1005fs, XP_016880335.1:p.Phe998fs, XP_011523300.1:p.Phe1007fs, NP_001275662.1:p.Phe1000fs, NP_001275661.1:p.Phe1000fs, XP_011523301.1:p.Phe1007fs, XP_047292351.1:p.Phe1000fs, XP_047292349.1:p.Phe1007fs, XP_047292350.1:p.Phe1000fs, XP_047292353.1:p.Phe998fs, XP_047292352.1:p.Phe1000fs, XP_047292348.1:p.Phe1007fs

          5.

          rs1483243727 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:64177337 (GRCh38)
            17:62254697 (GRCh37)
            Canonical SPDI:
            NC_000017.11:64177336:G:A
            Gene:
            TEX2 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000008/2 (GnomAD_exomes)
            HGVS:

            6.

            rs1479188044 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:64188221 (GRCh38)
              17:62265581 (GRCh37)
              Canonical SPDI:
              NC_000017.11:64188220:G:A
              Gene:
              TEX2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              NC_000017.11:g.64188221G>A, NC_000017.10:g.62265581G>A, NM_018469.5:c.2392C>T, NM_018469.4:c.2392C>T, NM_018469.3:c.2392C>T, XM_011525000.3:c.2392C>T, XM_011525000.2:c.2392C>T, XM_011525000.1:c.2392C>T, XM_017024846.3:c.2371C>T, XM_017024846.2:c.2371C>T, XM_017024846.1:c.2371C>T, XM_011524998.2:c.2392C>T, XM_011524998.1:c.2392C>T, NM_001288733.2:c.2371C>T, NM_001288733.1:c.2371C>T, NM_001288732.2:c.2371C>T, NM_001288732.1:c.2371C>T, XM_011524999.2:c.2392C>T, XM_011524999.1:c.2392C>T, XM_047436395.1:c.2371C>T, XM_047436393.1:c.2392C>T, XM_047436394.1:c.2371C>T, XM_047436397.1:c.2371C>T, XM_047436396.1:c.2371C>T, XM_047436392.1:c.2392C>T, NP_060939.3:p.Pro798Ser, XP_011523302.1:p.Pro798Ser, XP_016880335.1:p.Pro791Ser, XP_011523300.1:p.Pro798Ser, NP_001275662.1:p.Pro791Ser, NP_001275661.1:p.Pro791Ser, XP_011523301.1:p.Pro798Ser, XP_047292351.1:p.Pro791Ser, XP_047292349.1:p.Pro798Ser, XP_047292350.1:p.Pro791Ser, XP_047292353.1:p.Pro791Ser, XP_047292352.1:p.Pro791Ser, XP_047292348.1:p.Pro798Ser

              7.

              rs1478466746 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                17:64193622 (GRCh38)
                17:62270982 (GRCh37)
                Canonical SPDI:
                NC_000017.11:64193621:T:G
                Gene:
                TEX2 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000011/3 (TOPMED)
                HGVS:
                NC_000017.11:g.64193622T>G, NC_000017.10:g.62270982T>G, NM_018469.5:c.2113A>C, NM_018469.4:c.2113A>C, NM_018469.3:c.2113A>C, XM_011525000.3:c.2113A>C, XM_011525000.2:c.2113A>C, XM_011525000.1:c.2113A>C, XM_017024846.3:c.2113A>C, XM_017024846.2:c.2113A>C, XM_017024846.1:c.2113A>C, XM_011524998.2:c.2113A>C, XM_011524998.1:c.2113A>C, NM_001288733.2:c.2113A>C, NM_001288733.1:c.2113A>C, NM_001288732.2:c.2113A>C, NM_001288732.1:c.2113A>C, XM_011524999.2:c.2113A>C, XM_011524999.1:c.2113A>C, XM_047436395.1:c.2113A>C, XM_047436393.1:c.2113A>C, XM_047436394.1:c.2113A>C, XM_047436397.1:c.2113A>C, XM_047436396.1:c.2113A>C, XM_047436392.1:c.2113A>C, NP_060939.3:p.Ile705Leu, XP_011523302.1:p.Ile705Leu, XP_016880335.1:p.Ile705Leu, XP_011523300.1:p.Ile705Leu, NP_001275662.1:p.Ile705Leu, NP_001275661.1:p.Ile705Leu, XP_011523301.1:p.Ile705Leu, XP_047292351.1:p.Ile705Leu, XP_047292349.1:p.Ile705Leu, XP_047292350.1:p.Ile705Leu, XP_047292353.1:p.Ile705Leu, XP_047292352.1:p.Ile705Leu, XP_047292348.1:p.Ile705Leu

                8.

                rs1477651267 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:64188351 (GRCh38)
                  17:62265711 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:64188350:G:A
                  Gene:
                  TEX2 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1477095424 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    17:64188357 (GRCh38)
                    17:62265717 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:64188356:G:A,NC_000017.11:64188356:G:C
                    Gene:
                    TEX2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    C=0.000142/2 (TOMMO)
                    HGVS:
                    NC_000017.11:g.64188357G>A, NC_000017.11:g.64188357G>C, NC_000017.10:g.62265717G>A, NC_000017.10:g.62265717G>C, NM_018469.5:c.2256C>T, NM_018469.5:c.2256C>G, NM_018469.4:c.2256C>T, NM_018469.4:c.2256C>G, NM_018469.3:c.2256C>T, NM_018469.3:c.2256C>G, XM_011525000.3:c.2256C>T, XM_011525000.3:c.2256C>G, XM_011525000.2:c.2256C>T, XM_011525000.2:c.2256C>G, XM_011525000.1:c.2256C>T, XM_011525000.1:c.2256C>G, XM_017024846.3:c.2235C>T, XM_017024846.3:c.2235C>G, XM_017024846.2:c.2235C>T, XM_017024846.2:c.2235C>G, XM_017024846.1:c.2235C>T, XM_017024846.1:c.2235C>G, XM_011524998.2:c.2256C>T, XM_011524998.2:c.2256C>G, XM_011524998.1:c.2256C>T, XM_011524998.1:c.2256C>G, NM_001288733.2:c.2235C>T, NM_001288733.2:c.2235C>G, NM_001288733.1:c.2235C>T, NM_001288733.1:c.2235C>G, NM_001288732.2:c.2235C>T, NM_001288732.2:c.2235C>G, NM_001288732.1:c.2235C>T, NM_001288732.1:c.2235C>G, XM_011524999.2:c.2256C>T, XM_011524999.2:c.2256C>G, XM_011524999.1:c.2256C>T, XM_011524999.1:c.2256C>G, XM_047436395.1:c.2235C>T, XM_047436395.1:c.2235C>G, XM_047436393.1:c.2256C>T, XM_047436393.1:c.2256C>G, XM_047436394.1:c.2235C>T, XM_047436394.1:c.2235C>G, XM_047436397.1:c.2235C>T, XM_047436397.1:c.2235C>G, XM_047436396.1:c.2235C>T, XM_047436396.1:c.2235C>G, XM_047436392.1:c.2256C>T, XM_047436392.1:c.2256C>G

                    10.

                    rs1476672457 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      17:64193703 (GRCh38)
                      17:62271063 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:64193702:T:C
                      Gene:
                      TEX2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000017.11:g.64193703T>C, NC_000017.10:g.62271063T>C, NM_018469.5:c.2032A>G, NM_018469.4:c.2032A>G, NM_018469.3:c.2032A>G, XM_011525000.3:c.2032A>G, XM_011525000.2:c.2032A>G, XM_011525000.1:c.2032A>G, XM_017024846.3:c.2032A>G, XM_017024846.2:c.2032A>G, XM_017024846.1:c.2032A>G, XM_011524998.2:c.2032A>G, XM_011524998.1:c.2032A>G, NM_001288733.2:c.2032A>G, NM_001288733.1:c.2032A>G, NM_001288732.2:c.2032A>G, NM_001288732.1:c.2032A>G, XM_011524999.2:c.2032A>G, XM_011524999.1:c.2032A>G, XM_047436395.1:c.2032A>G, XM_047436393.1:c.2032A>G, XM_047436394.1:c.2032A>G, XM_047436397.1:c.2032A>G, XM_047436396.1:c.2032A>G, XM_047436392.1:c.2032A>G, NP_060939.3:p.Thr678Ala, XP_011523302.1:p.Thr678Ala, XP_016880335.1:p.Thr678Ala, XP_011523300.1:p.Thr678Ala, NP_001275662.1:p.Thr678Ala, NP_001275661.1:p.Thr678Ala, XP_011523301.1:p.Thr678Ala, XP_047292351.1:p.Thr678Ala, XP_047292349.1:p.Thr678Ala, XP_047292350.1:p.Thr678Ala, XP_047292353.1:p.Thr678Ala, XP_047292352.1:p.Thr678Ala, XP_047292348.1:p.Thr678Ala

                      11.

                      rs1476289112 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        17:64213449 (GRCh38)
                        17:62290809 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:64213448:C:G
                        Gene:
                        TEX2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000017.11:g.64213449C>G, NC_000017.10:g.62290809C>G, NW_003315947.1:g.17296C>G, NM_018469.5:c.769G>C, NM_018469.4:c.769G>C, NM_018469.3:c.769G>C, XM_017024847.3:c.769G>C, XM_017024847.2:c.769G>C, XM_017024847.1:c.769G>C, XM_011525000.3:c.769G>C, XM_011525000.2:c.769G>C, XM_011525000.1:c.769G>C, XM_017024846.3:c.769G>C, XM_017024846.2:c.769G>C, XM_017024846.1:c.769G>C, XM_011524998.2:c.769G>C, XM_011524998.1:c.769G>C, NM_001288733.2:c.769G>C, NM_001288733.1:c.769G>C, NM_001288732.2:c.769G>C, NM_001288732.1:c.769G>C, XM_011524999.2:c.769G>C, XM_011524999.1:c.769G>C, XM_047436395.1:c.769G>C, XM_047436393.1:c.769G>C, XM_047436394.1:c.769G>C, XM_047436397.1:c.769G>C, XM_047436396.1:c.769G>C, XM_047436392.1:c.769G>C, NP_060939.3:p.Gly257Arg, XP_016880336.1:p.Gly257Arg, XP_011523302.1:p.Gly257Arg, XP_016880335.1:p.Gly257Arg, XP_011523300.1:p.Gly257Arg, NP_001275662.1:p.Gly257Arg, NP_001275661.1:p.Gly257Arg, XP_011523301.1:p.Gly257Arg, XP_047292351.1:p.Gly257Arg, XP_047292349.1:p.Gly257Arg, XP_047292350.1:p.Gly257Arg, XP_047292353.1:p.Gly257Arg, XP_047292352.1:p.Gly257Arg, XP_047292348.1:p.Gly257Arg

                        12.

                        rs1475955089 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TCGA>- [Show Flanks]
                          Chromosome:
                          17:64195021 (GRCh38)
                          17:62272381 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:64195020:TCGA:
                          Gene:
                          TEX2 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000017.11:g.64195021_64195024del, NC_000017.10:g.62272381_62272384del, NM_018469.5:c.1716_1719del, NM_018469.4:c.1716_1719del, NM_018469.3:c.1716_1719del, XM_011525000.3:c.1716_1719del, XM_011525000.2:c.1716_1719del, XM_011525000.1:c.1716_1719del, XM_017024846.3:c.1716_1719del, XM_017024846.2:c.1716_1719del, XM_017024846.1:c.1716_1719del, XM_011524998.2:c.1716_1719del, XM_011524998.1:c.1716_1719del, NM_001288733.2:c.1716_1719del, NM_001288733.1:c.1716_1719del, NM_001288732.2:c.1716_1719del, NM_001288732.1:c.1716_1719del, XM_011524999.2:c.1716_1719del, XM_011524999.1:c.1716_1719del, XM_047436395.1:c.1716_1719del, XM_047436393.1:c.1716_1719del, XM_047436394.1:c.1716_1719del, XM_047436397.1:c.1716_1719del, XM_047436396.1:c.1716_1719del, XM_047436392.1:c.1716_1719del, NP_060939.3:p.Arg573fs, XP_011523302.1:p.Arg573fs, XP_016880335.1:p.Arg573fs, XP_011523300.1:p.Arg573fs, NP_001275662.1:p.Arg573fs, NP_001275661.1:p.Arg573fs, XP_011523301.1:p.Arg573fs, XP_047292351.1:p.Arg573fs, XP_047292349.1:p.Arg573fs, XP_047292350.1:p.Arg573fs, XP_047292353.1:p.Arg573fs, XP_047292352.1:p.Arg573fs, XP_047292348.1:p.Arg573fs

                          13.

                          rs1473154591 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:64188295 (GRCh38)
                            17:62265655 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:64188294:C:T
                            Gene:
                            TEX2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000015/4 (TOPMED)
                            HGVS:
                            NC_000017.11:g.64188295C>T, NC_000017.10:g.62265655C>T, NM_018469.5:c.2318G>A, NM_018469.4:c.2318G>A, NM_018469.3:c.2318G>A, XM_011525000.3:c.2318G>A, XM_011525000.2:c.2318G>A, XM_011525000.1:c.2318G>A, XM_017024846.3:c.2297G>A, XM_017024846.2:c.2297G>A, XM_017024846.1:c.2297G>A, XM_011524998.2:c.2318G>A, XM_011524998.1:c.2318G>A, NM_001288733.2:c.2297G>A, NM_001288733.1:c.2297G>A, NM_001288732.2:c.2297G>A, NM_001288732.1:c.2297G>A, XM_011524999.2:c.2318G>A, XM_011524999.1:c.2318G>A, XM_047436395.1:c.2297G>A, XM_047436393.1:c.2318G>A, XM_047436394.1:c.2297G>A, XM_047436397.1:c.2297G>A, XM_047436396.1:c.2297G>A, XM_047436392.1:c.2318G>A, NP_060939.3:p.Gly773Asp, XP_011523302.1:p.Gly773Asp, XP_016880335.1:p.Gly766Asp, XP_011523300.1:p.Gly773Asp, NP_001275662.1:p.Gly766Asp, NP_001275661.1:p.Gly766Asp, XP_011523301.1:p.Gly773Asp, XP_047292351.1:p.Gly766Asp, XP_047292349.1:p.Gly773Asp, XP_047292350.1:p.Gly766Asp, XP_047292353.1:p.Gly766Asp, XP_047292352.1:p.Gly766Asp, XP_047292348.1:p.Gly773Asp

                            14.

                            rs1471733335 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              17:64188298 (GRCh38)
                              17:62265658 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:64188297:G:T
                              Gene:
                              TEX2 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000017.11:g.64188298G>T, NC_000017.10:g.62265658G>T, NM_018469.5:c.2315C>A, NM_018469.4:c.2315C>A, NM_018469.3:c.2315C>A, XM_011525000.3:c.2315C>A, XM_011525000.2:c.2315C>A, XM_011525000.1:c.2315C>A, XM_017024846.3:c.2294C>A, XM_017024846.2:c.2294C>A, XM_017024846.1:c.2294C>A, XM_011524998.2:c.2315C>A, XM_011524998.1:c.2315C>A, NM_001288733.2:c.2294C>A, NM_001288733.1:c.2294C>A, NM_001288732.2:c.2294C>A, NM_001288732.1:c.2294C>A, XM_011524999.2:c.2315C>A, XM_011524999.1:c.2315C>A, XM_047436395.1:c.2294C>A, XM_047436393.1:c.2315C>A, XM_047436394.1:c.2294C>A, XM_047436397.1:c.2294C>A, XM_047436396.1:c.2294C>A, XM_047436392.1:c.2315C>A, NP_060939.3:p.Ala772Glu, XP_011523302.1:p.Ala772Glu, XP_016880335.1:p.Ala765Glu, XP_011523300.1:p.Ala772Glu, NP_001275662.1:p.Ala765Glu, NP_001275661.1:p.Ala765Glu, XP_011523301.1:p.Ala772Glu, XP_047292351.1:p.Ala765Glu, XP_047292349.1:p.Ala772Glu, XP_047292350.1:p.Ala765Glu, XP_047292353.1:p.Ala765Glu, XP_047292352.1:p.Ala765Glu, XP_047292348.1:p.Ala772Glu

                              15.

                              rs1471698875 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                17:64194898 (GRCh38)
                                17:62272258 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:64194897:G:C
                                Gene:
                                TEX2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000017.11:g.64194898G>C, NC_000017.10:g.62272258G>C, NM_018469.5:c.1842C>G, NM_018469.4:c.1842C>G, NM_018469.3:c.1842C>G, XM_011525000.3:c.1842C>G, XM_011525000.2:c.1842C>G, XM_011525000.1:c.1842C>G, XM_017024846.3:c.1842C>G, XM_017024846.2:c.1842C>G, XM_017024846.1:c.1842C>G, XM_011524998.2:c.1842C>G, XM_011524998.1:c.1842C>G, NM_001288733.2:c.1842C>G, NM_001288733.1:c.1842C>G, NM_001288732.2:c.1842C>G, NM_001288732.1:c.1842C>G, XM_011524999.2:c.1842C>G, XM_011524999.1:c.1842C>G, XM_047436395.1:c.1842C>G, XM_047436393.1:c.1842C>G, XM_047436394.1:c.1842C>G, XM_047436397.1:c.1842C>G, XM_047436396.1:c.1842C>G, XM_047436392.1:c.1842C>G, NP_060939.3:p.Ser614Arg, XP_011523302.1:p.Ser614Arg, XP_016880335.1:p.Ser614Arg, XP_011523300.1:p.Ser614Arg, NP_001275662.1:p.Ser614Arg, NP_001275661.1:p.Ser614Arg, XP_011523301.1:p.Ser614Arg, XP_047292351.1:p.Ser614Arg, XP_047292349.1:p.Ser614Arg, XP_047292350.1:p.Ser614Arg, XP_047292353.1:p.Ser614Arg, XP_047292352.1:p.Ser614Arg, XP_047292348.1:p.Ser614Arg

                                16.

                                rs1471154615 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  17:64212594 (GRCh38)
                                  17:62289954 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:64212593:T:C
                                  Gene:
                                  TEX2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000019/5 (TOPMED)
                                  HGVS:
                                  NC_000017.11:g.64212594T>C, NC_000017.10:g.62289954T>C, NW_003315947.1:g.16441T>C, NM_018469.5:c.1624A>G, NM_018469.4:c.1624A>G, NM_018469.3:c.1624A>G, XM_017024847.3:c.1624A>G, XM_017024847.2:c.1624A>G, XM_017024847.1:c.1624A>G, XM_011525000.3:c.1624A>G, XM_011525000.2:c.1624A>G, XM_011525000.1:c.1624A>G, XM_017024846.3:c.1624A>G, XM_017024846.2:c.1624A>G, XM_017024846.1:c.1624A>G, XM_011524998.2:c.1624A>G, XM_011524998.1:c.1624A>G, NM_001288733.2:c.1624A>G, NM_001288733.1:c.1624A>G, NM_001288732.2:c.1624A>G, NM_001288732.1:c.1624A>G, XM_011524999.2:c.1624A>G, XM_011524999.1:c.1624A>G, XM_047436395.1:c.1624A>G, XM_047436393.1:c.1624A>G, XM_047436394.1:c.1624A>G, XM_047436397.1:c.1624A>G, XM_047436396.1:c.1624A>G, XM_047436392.1:c.1624A>G, NP_060939.3:p.Lys542Glu, XP_016880336.1:p.Lys542Glu, XP_011523302.1:p.Lys542Glu, XP_016880335.1:p.Lys542Glu, XP_011523300.1:p.Lys542Glu, NP_001275662.1:p.Lys542Glu, NP_001275661.1:p.Lys542Glu, XP_011523301.1:p.Lys542Glu, XP_047292351.1:p.Lys542Glu, XP_047292349.1:p.Lys542Glu, XP_047292350.1:p.Lys542Glu, XP_047292353.1:p.Lys542Glu, XP_047292352.1:p.Lys542Glu, XP_047292348.1:p.Lys542Glu

                                  17.

                                  rs1471024796 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:64213839 (GRCh38)
                                    17:62291199 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:64213838:A:G
                                    Gene:
                                    TEX2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000054/1 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000223/1 (Estonian)
                                    HGVS:

                                    18.

                                    rs1469434215 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      17:64193653 (GRCh38)
                                      17:62271013 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:64193652:G:T
                                      Gene:
                                      TEX2 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1469147124 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        17:64154844 (GRCh38)
                                        17:62232204 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:64154843:T:G
                                        Gene:
                                        TEX2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.64154844T>G, NC_000017.10:g.62232204T>G, NM_018469.5:c.2949A>C, NM_018469.4:c.2949A>C, NM_018469.3:c.2949A>C, XM_011525000.3:c.2943A>C, XM_011525000.2:c.2943A>C, XM_011525000.1:c.2943A>C, XM_017024846.3:c.2922A>C, XM_017024846.2:c.2922A>C, XM_017024846.1:c.2922A>C, XM_011524998.2:c.2949A>C, XM_011524998.1:c.2949A>C, NM_001288733.2:c.2928A>C, NM_001288733.1:c.2928A>C, NM_001288732.2:c.2928A>C, NM_001288732.1:c.2928A>C, XM_011524999.2:c.2949A>C, XM_011524999.1:c.2949A>C, XM_047436395.1:c.2928A>C, XM_047436393.1:c.2949A>C, XM_047436394.1:c.2928A>C, XM_047436397.1:c.2922A>C, XM_047436396.1:c.2928A>C, XM_047436392.1:c.2949A>C, NP_060939.3:p.Glu983Asp, XP_011523302.1:p.Glu981Asp, XP_016880335.1:p.Glu974Asp, XP_011523300.1:p.Glu983Asp, NP_001275662.1:p.Glu976Asp, NP_001275661.1:p.Glu976Asp, XP_011523301.1:p.Glu983Asp, XP_047292351.1:p.Glu976Asp, XP_047292349.1:p.Glu983Asp, XP_047292350.1:p.Glu976Asp, XP_047292353.1:p.Glu974Asp, XP_047292352.1:p.Glu976Asp, XP_047292348.1:p.Glu983Asp

                                        20.

                                        rs1468491773 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          17:64149051 (GRCh38)
                                          17:62226411 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:64149050:G:C
                                          Gene:
                                          TEX2 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.64149051G>C, NC_000017.10:g.62226411G>C, NM_018469.5:c.3323C>G, NM_018469.4:c.3323C>G, NM_018469.3:c.3323C>G, XM_011525000.3:c.3317C>G, XM_011525000.2:c.3317C>G, XM_011525000.1:c.3317C>G, XM_017024846.3:c.3296C>G, XM_017024846.2:c.3296C>G, XM_017024846.1:c.3296C>G, XM_011524998.2:c.3323C>G, XM_011524998.1:c.3323C>G, NM_001288733.2:c.3302C>G, NM_001288733.1:c.3302C>G, NM_001288732.2:c.3302C>G, NM_001288732.1:c.3302C>G, XM_011524999.2:c.3323C>G, XM_011524999.1:c.3323C>G, XM_047436395.1:c.3302C>G, XM_047436393.1:c.3323C>G, XM_047436394.1:c.3302C>G, XM_047436397.1:c.3296C>G, XM_047436396.1:c.3302C>G, XM_047436392.1:c.3323C>G, NP_060939.3:p.Thr1108Ser, XP_011523302.1:p.Thr1106Ser, XP_016880335.1:p.Thr1099Ser, XP_011523300.1:p.Thr1108Ser, NP_001275662.1:p.Thr1101Ser, NP_001275661.1:p.Thr1101Ser, XP_011523301.1:p.Thr1108Ser, XP_047292351.1:p.Thr1101Ser, XP_047292349.1:p.Thr1108Ser, XP_047292350.1:p.Thr1101Ser, XP_047292353.1:p.Thr1099Ser, XP_047292352.1:p.Thr1101Ser, XP_047292348.1:p.Thr1108Ser

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