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Links from Protein

Items: 1 to 20 of 223

1.

rs1490026973 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    13:45207469 (GRCh38)
    13:45781604 (GRCh37)
    Canonical SPDI:
    NC_000013.11:45207468:G:A
    Gene:
    GTF2F2 (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 (GnomAD_exomes)
    A=0.000008/2 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1487738942 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      13:45120666 (GRCh38)
      13:45694801 (GRCh37)
      Canonical SPDI:
      NC_000013.11:45120665:G:T
      Gene:
      GTF2F2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      T=0.000006/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1477826074 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        13:45120680 (GRCh38)
        13:45694815 (GRCh37)
        Canonical SPDI:
        NC_000013.11:45120679:T:C
        Gene:
        GTF2F2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000006/1 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1470576004 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          13:45252936 (GRCh38)
          13:45827071 (GRCh37)
          Canonical SPDI:
          NC_000013.11:45252935:C:T
          Gene:
          GTF2F2 (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000006/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1458113278 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            13:45267320 (GRCh38)
            13:45841455 (GRCh37)
            Canonical SPDI:
            NC_000013.11:45267319:G:C
            Gene:
            GTF2F2 (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1452020081 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              13:45149771 (GRCh38)
              13:45723906 (GRCh37)
              Canonical SPDI:
              NC_000013.11:45149770:A:G
              Gene:
              GTF2F2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
              HGVS:
              7.

              rs1449994443 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:45252879 (GRCh38)
                13:45827014 (GRCh37)
                Canonical SPDI:
                NC_000013.11:45252878:T:C
                Gene:
                GTF2F2 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                HGVS:
                8.

                rs1446377707 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  13:45267358 (GRCh38)
                  13:45841493 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:45267357:C:T
                  Gene:
                  GTF2F2 (Varview)
                  Functional Consequence:
                  synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000021/3 (GnomAD)
                  HGVS:
                  10.

                  rs1436496189 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    13:45252881 (GRCh38)
                    13:45827016 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:45252880:G:A
                    Gene:
                    GTF2F2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    11.

                    rs1431697492 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      13:45267292 (GRCh38)
                      13:45841427 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:45267291:T:G
                      Gene:
                      GTF2F2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1424696231 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        13:45267365 (GRCh38)
                        13:45841500 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:45267364:A:G
                        Gene:
                        GTF2F2 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        13.

                        rs1421326165 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          13:45120698 (GRCh38)
                          13:45694833 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:45120697:A:G
                          Gene:
                          GTF2F2 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.000006/1 (GnomAD_exomes)
                          G=0.000106/2 (TOMMO)
                          HGVS:
                          14.

                          rs1417116020 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:45207483 (GRCh38)
                            13:45781618 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:45207482:G:A
                            Gene:
                            GTF2F2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            HGVS:
                            15.
                            16.

                            rs1415517875 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              13:45183464 (GRCh38)
                              13:45757599 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:45183463:A:G
                              Gene:
                              GTF2F2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000015/4 (TOPMED)
                              HGVS:
                              18.

                              rs1404356487 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                13:45252939 (GRCh38)
                                13:45827074 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:45252938:A:G
                                Gene:
                                GTF2F2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                19.

                                rs1402777416 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  13:45151804 (GRCh38)
                                  13:45725939 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:45151803:T:C
                                  Gene:
                                  GTF2F2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  20.

                                  rs1395351641 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    13:45151807 (GRCh38)
                                    13:45725942 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:45151806:A:G
                                    Gene:
                                    GTF2F2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:

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