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Links from Protein

Items: 1 to 20 of 191

1.

rs1489690587 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    16:58196829 (GRCh38)
    16:58230733 (GRCh37)
    Canonical SPDI:
    NC_000016.10:58196828:G:C
    Gene:
    CSNK2A2 (Varview), CCDC113 (Varview)
    Functional Consequence:
    stop_gained,coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1486182360 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      16:58167244 (GRCh38)
      16:58201148 (GRCh37)
      Canonical SPDI:
      NC_000016.10:58167243:C:T
      Gene:
      CSNK2A2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1475154628 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:58167213 (GRCh38)
        16:58201117 (GRCh37)
        Canonical SPDI:
        NC_000016.10:58167212:A:G
        Gene:
        CSNK2A2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000085/3 (ALFA)
        G=0.000015/4 (TOPMED)
        G=0.000016/4 (GnomAD_exomes)
        G=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1474767631 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          16:58197685 (GRCh38)
          16:58231589 (GRCh37)
          Canonical SPDI:
          NC_000016.10:58197684:T:C
          Gene:
          CSNK2A2 (Varview), CCDC113 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1470616474 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            16:58196813 (GRCh38)
            16:58230717 (GRCh37)
            Canonical SPDI:
            NC_000016.10:58196812:G:A
            Gene:
            CSNK2A2 (Varview), CCDC113 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1465113121 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:58165694 (GRCh38)
              16:58199598 (GRCh37)
              Canonical SPDI:
              NC_000016.10:58165693:C:T
              Gene:
              CSNK2A2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1461119155 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                16:58186821 (GRCh38)
                16:58220725 (GRCh37)
                Canonical SPDI:
                NC_000016.10:58186820:C:A
                Gene:
                CSNK2A2 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1459370533 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  16:58197716 (GRCh38)
                  16:58231620 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:58197715:G:A,NC_000016.10:58197715:G:C
                  Gene:
                  CSNK2A2 (Varview), CCDC113 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1453441068 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    16:58174464 (GRCh38)
                    16:58208368 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:58174463:T:C
                    Gene:
                    CSNK2A2 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    11.

                    rs1440466543 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:58166652 (GRCh38)
                      16:58200556 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:58166651:T:C
                      Gene:
                      CSNK2A2 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      12.

                      rs1437189490 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        16:58186790 (GRCh38)
                        16:58220694 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:58186789:T:C
                        Gene:
                        CSNK2A2 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        13.

                        rs1435591271 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          16:58166596 (GRCh38)
                          16:58200500 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:58166595:T:C
                          Gene:
                          CSNK2A2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          14.

                          rs1434461489 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            16:58196790 (GRCh38)
                            16:58230694 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:58196789:T:G
                            Gene:
                            CSNK2A2 (Varview), CCDC113 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            15.

                            rs1433940583 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              16:58174508 (GRCh38)
                              16:58208412 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:58174507:T:A,NC_000016.10:58174507:T:C
                              Gene:
                              CSNK2A2 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000102/2 (ALFA)
                              A=0.000007/1 (GnomAD)
                              C=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              16.

                              rs1431525244 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:58186805 (GRCh38)
                                16:58220709 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:58186804:G:A
                                Gene:
                                CSNK2A2 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1431385521 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:58197677 (GRCh38)
                                  16:58231581 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:58197676:C:T
                                  Gene:
                                  CSNK2A2 (Varview), CCDC113 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  HGVS:
                                  18.

                                  rs1431134446 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    16:58166682 (GRCh38)
                                    16:58200586 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:58166681:A:G
                                    Gene:
                                    CSNK2A2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000012/3 (GnomAD_exomes)
                                    G=0.000015/4 (TOPMED)
                                    G=0.000684/2 (KOREAN)
                                    HGVS:
                                    20.

                                    rs1419394704 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      16:58168614 (GRCh38)
                                      16:58202518 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:58168613:T:C
                                      Gene:
                                      CSNK2A2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:

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