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Items: 1 to 20 of 195

1.

rs1489455121 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    1:159918914 (GRCh38)
    1:159888704 (GRCh37)
    Canonical SPDI:
    NC_000001.11:159918913:G:C
    Gene:
    TAGLN2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1483650357 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:159919765 (GRCh38)
      1:159889555 (GRCh37)
      Canonical SPDI:
      NC_000001.11:159919764:G:A
      Gene:
      TAGLN2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1465892913 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        1:159919807 (GRCh38)
        1:159889597 (GRCh37)
        Canonical SPDI:
        NC_000001.11:159919806:T:A
        Gene:
        TAGLN2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1453712747 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:159919720 (GRCh38)
          1:159889510 (GRCh37)
          Canonical SPDI:
          NC_000001.11:159919719:G:A
          Gene:
          TAGLN2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1448787408 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            1:159919766 (GRCh38)
            1:159889556 (GRCh37)
            Canonical SPDI:
            NC_000001.11:159919765:T:G
            Gene:
            TAGLN2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1440651920 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AA>- [Show Flanks]
              Chromosome:
              1:159923460 (GRCh38)
              1:159893250 (GRCh37)
              Canonical SPDI:
              NC_000001.11:159923457:AAAA:AA
              Gene:
              TAGLN2 (Varview), LOC124904437 (Varview)
              Functional Consequence:
              2KB_upstream_variant,frameshift_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
              HGVS:
              7.

              rs1430195554 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:159918877 (GRCh38)
                1:159888667 (GRCh37)
                Canonical SPDI:
                NC_000001.11:159918876:C:T
                Gene:
                TAGLN2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000011/3 (TOPMED)
                T=0.000016/4 (GnomAD_exomes)
                T=0.000071/1 (TOMMO)
                HGVS:
                8.

                rs1427164764 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CCATGT>- [Show Flanks]
                  Chromosome:
                  1:159919365 (GRCh38)
                  1:159889155 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:159919364:CCATGT:
                  Gene:
                  TAGLN2 (Varview)
                  Functional Consequence:
                  inframe_indel,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.000071/1 (ALFA)
                  -=0.000007/1 (GnomAD)
                  -=0.000026/7 (TOPMED)
                  HGVS:
                  9.

                  rs1424206087 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    1:159920424 (GRCh38)
                    1:159890214 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:159920423:A:G,NC_000001.11:159920423:A:T
                    Gene:
                    TAGLN2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1421334624 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:159920521 (GRCh38)
                      1:159890311 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:159920520:G:A
                      Gene:
                      TAGLN2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,5_prime_UTR_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1411754598 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:159919758 (GRCh38)
                        1:159889548 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:159919757:G:A
                        Gene:
                        TAGLN2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000028/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1403231609 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          1:159920531 (GRCh38)
                          1:159890321 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:159920530:C:A,NC_000001.11:159920530:C:T
                          Gene:
                          TAGLN2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000023/6 (TOPMED)
                          T=0.000036/5 (GnomAD)
                          T=0.000354/6 (TOMMO)
                          HGVS:
                          13.

                          rs1402269524 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:159920359 (GRCh38)
                            1:159890149 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:159920358:T:C
                            Gene:
                            TAGLN2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000031/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1401233602 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:159919330 (GRCh38)
                              1:159889120 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:159919329:C:T
                              Gene:
                              TAGLN2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1398028134 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:159920524 (GRCh38)
                                1:159890314 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:159920523:G:A
                                Gene:
                                TAGLN2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                HGVS:
                                16.

                                rs1385318054 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:159923466 (GRCh38)
                                  1:159893256 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:159923465:G:A
                                  Gene:
                                  TAGLN2 (Varview), LOC124904437 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,2KB_upstream_variant,intron_variant,missense_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000051/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1384498331 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:159918809 (GRCh38)
                                    1:159888599 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:159918808:C:G
                                    Gene:
                                    TAGLN2 (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=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1378464595 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:159919326 (GRCh38)
                                      1:159889116 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:159919325:C:T
                                      Gene:
                                      TAGLN2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1377762534 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:159919830 (GRCh38)
                                        1:159889620 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:159919829:T:C
                                        Gene:
                                        TAGLN2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000043/1 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1376662511 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:159919824 (GRCh38)
                                          1:159889614 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:159919823:C:G
                                          Gene:
                                          TAGLN2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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