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 382

1.

rs1490885244 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:127640988 (GRCh38)
    2:128398563 (GRCh37)
    Canonical SPDI:
    NC_000002.12:127640987:G:A
    Gene:
    LIMS2 (Varview)
    Functional Consequence:
    synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Clinical significance:
    uncertain-significance
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000014/2 (GnomAD)
    HGVS:
    NC_000002.12:g.127640988G>A, NC_000002.11:g.128398563G>A, NG_042235.1:g.45799C>T, NM_017980.5:c.733C>T, NM_017980.4:c.733C>T, NM_001136037.4:c.727C>T, NM_001136037.3:c.727C>T, NM_001136037.2:c.727C>T, NM_001161403.3:c.661C>T, NM_001161403.2:c.661C>T, NM_001161403.1:c.661C>T, NM_001161404.2:c.646C>T, NM_001161404.1:c.646C>T, NM_001256542.2:c.205C>T, NM_001256542.1:c.205C>T, XM_006712627.5:c.313C>T, XM_006712627.4:c.313C>T, XM_006712627.3:c.313C>T, XM_006712627.2:c.313C>T, XM_006712627.1:c.313C>T, XM_005263710.3:c.454C>T, XM_005263710.2:c.454C>T, XM_005263710.1:c.454C>T, XM_024452983.2:c.646C>T, XM_024452983.1:c.646C>T, XM_011511453.2:c.582C>T, XM_011511453.1:c.582C>T, XM_024452985.2:c.205C>T, XM_024452985.1:c.205C>T, XM_024452986.2:c.205C>T, XM_024452986.1:c.205C>T, XM_017004469.2:c.324C>T, XM_017004469.1:c.324C>T, XM_047444975.1:c.205C>T, XM_047444976.1:c.205C>T, XM_047444970.1:c.510C>T, XM_047444963.1:c.718C>T, XM_047444972.1:c.400C>T, NR_027823.1:n.444C>T, NM_001161405.1:c.205C>T, XM_047444971.1:c.733C>T, NP_060450.2:p.His245Tyr, NP_001129509.2:p.His243Tyr, NP_001154875.1:p.His221Tyr, NP_001154876.1:p.His216Tyr, NP_001243471.1:p.His69Tyr, XP_006712690.1:p.His105Tyr, XP_005263767.1:p.His152Tyr, XP_024308751.1:p.His216Tyr, XP_024308753.1:p.His69Tyr, XP_024308754.1:p.His69Tyr, XP_047300931.1:p.His69Tyr, XP_047300932.1:p.His69Tyr, XP_047300919.1:p.His240Tyr, XP_047300928.1:p.His134Tyr, XP_047300927.1:p.His245Tyr

    2.

    rs1490458058 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      2:127640286 (GRCh38)
      2:128397861 (GRCh37)
      Canonical SPDI:
      NC_000002.12:127640285:A:G,NC_000002.12:127640285:A:T
      Gene:
      LIMS2 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
      HGVS:
      NC_000002.12:g.127640286A>G, NC_000002.12:g.127640286A>T, NC_000002.11:g.128397861A>G, NC_000002.11:g.128397861A>T, NG_042235.1:g.46501T>C, NG_042235.1:g.46501T>A, NM_017980.5:c.858T>C, NM_017980.5:c.858T>A, NM_017980.4:c.858T>C, NM_017980.4:c.858T>A, NM_001136037.4:c.852T>C, NM_001136037.4:c.852T>A, NM_001136037.3:c.852T>C, NM_001136037.3:c.852T>A, NM_001136037.2:c.852T>C, NM_001136037.2:c.852T>A, NM_001161403.3:c.786T>C, NM_001161403.3:c.786T>A, NM_001161403.2:c.786T>C, NM_001161403.2:c.786T>A, NM_001161403.1:c.786T>C, NM_001161403.1:c.786T>A, NM_001161404.2:c.771T>C, NM_001161404.2:c.771T>A, NM_001161404.1:c.771T>C, NM_001161404.1:c.771T>A, NM_001256542.2:c.330T>C, NM_001256542.2:c.330T>A, NM_001256542.1:c.330T>C, NM_001256542.1:c.330T>A, XM_006712627.5:c.438T>C, XM_006712627.5:c.438T>A, XM_006712627.4:c.438T>C, XM_006712627.4:c.438T>A, XM_006712627.3:c.438T>C, XM_006712627.3:c.438T>A, XM_006712627.2:c.438T>C, XM_006712627.2:c.438T>A, XM_006712627.1:c.438T>C, XM_006712627.1:c.438T>A, XM_005263710.3:c.579T>C, XM_005263710.3:c.579T>A, XM_005263710.2:c.579T>C, XM_005263710.2:c.579T>A, XM_005263710.1:c.579T>C, XM_005263710.1:c.579T>A, XM_024452983.2:c.771T>C, XM_024452983.2:c.771T>A, XM_024452983.1:c.771T>C, XM_024452983.1:c.771T>A, XM_011511453.2:c.735T>C, XM_011511453.2:c.735T>A, XM_011511453.1:c.735T>C, XM_011511453.1:c.735T>A, XM_024452985.2:c.330T>C, XM_024452985.2:c.330T>A, XM_024452985.1:c.330T>C, XM_024452985.1:c.330T>A, XM_024452986.2:c.330T>C, XM_024452986.2:c.330T>A, XM_024452986.1:c.330T>C, XM_024452986.1:c.330T>A, XM_017004469.2:c.477T>C, XM_017004469.2:c.477T>A, XM_017004469.1:c.477T>C, XM_017004469.1:c.477T>A, XM_047444975.1:c.330T>C, XM_047444975.1:c.330T>A, XM_047444976.1:c.330T>C, XM_047444976.1:c.330T>A, XM_047444970.1:c.663T>C, XM_047444970.1:c.663T>A, XM_047444963.1:c.843T>C, XM_047444963.1:c.843T>A, XM_047444972.1:c.525T>C, XM_047444972.1:c.525T>A, NR_027823.1:n.569T>C, NR_027823.1:n.569T>A, NM_001161405.1:c.330T>C, NM_001161405.1:c.330T>A, XM_047444971.1:c.*52T>C, XM_047444971.1:c.*52T>A, NP_060450.2:p.His286Gln, NP_001129509.2:p.His284Gln, NP_001154875.1:p.His262Gln, NP_001154876.1:p.His257Gln, NP_001243471.1:p.His110Gln, XP_006712690.1:p.His146Gln, XP_005263767.1:p.His193Gln, XP_024308751.1:p.His257Gln, XP_011509755.1:p.His245Gln, XP_024308753.1:p.His110Gln, XP_024308754.1:p.His110Gln, XP_016859958.1:p.His159Gln, XP_047300931.1:p.His110Gln, XP_047300932.1:p.His110Gln, XP_047300926.1:p.His221Gln, XP_047300919.1:p.His281Gln, XP_047300928.1:p.His175Gln

      3.

      rs1485682538 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:127654440 (GRCh38)
        2:128412014 (GRCh37)
        Canonical SPDI:
        NC_000002.12:127654439:C:T
        Gene:
        LIMS2 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000084/1 (ALFA)
        T=0.000021/3 (GnomAD)
        T=0.000023/6 (TOPMED)
        HGVS:
        NC_000002.12:g.127654440C>T, NC_000002.11:g.128412014C>T, NG_042235.1:g.32347G>A, NM_017980.5:c.415G>A, NM_017980.4:c.415G>A, NM_001136037.4:c.409G>A, NM_001136037.3:c.409G>A, NM_001136037.2:c.409G>A, NM_001161403.3:c.343G>A, NM_001161403.2:c.343G>A, NM_001161403.1:c.343G>A, NM_001161404.2:c.328G>A, NM_001161404.1:c.328G>A, XM_006712628.4:c.415G>A, XM_006712628.3:c.415G>A, XM_006712628.2:c.415G>A, XM_006712628.1:c.415G>A, XM_005263710.3:c.136G>A, XM_005263710.2:c.136G>A, XM_005263710.1:c.136G>A, XM_024452983.2:c.328G>A, XM_024452983.1:c.328G>A, XM_011511453.2:c.415G>A, XM_011511453.1:c.415G>A, XM_047444970.1:c.343G>A, XM_047444963.1:c.400G>A, XM_047444971.1:c.415G>A, NP_060450.2:p.Val139Met, NP_001129509.2:p.Val137Met, NP_001154875.1:p.Val115Met, NP_001154876.1:p.Val110Met, XP_006712691.1:p.Val139Met, XP_005263767.1:p.Val46Met, XP_024308751.1:p.Val110Met, XP_011509755.1:p.Val139Met, XP_047300926.1:p.Val115Met, XP_047300919.1:p.Val134Met, XP_047300927.1:p.Val139Met

        4.

        rs1479802505 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          2:127639386 (GRCh38)
          2:128396961 (GRCh37)
          Canonical SPDI:
          NC_000002.12:127639385:C:A
          Gene:
          LIMS2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.127639386C>A, NC_000002.11:g.128396961C>A, NG_052848.1:g.108698C>A, NG_042235.1:g.47401G>T, NM_017980.5:c.993G>T, NM_017980.4:c.993G>T, NM_001136037.4:c.987G>T, NM_001136037.3:c.987G>T, NM_001136037.2:c.987G>T, NM_001161403.3:c.921G>T, NM_001161403.2:c.921G>T, NM_001161403.1:c.921G>T, NM_001161404.2:c.906G>T, NM_001161404.1:c.906G>T, NM_001256542.2:c.465G>T, NM_001256542.1:c.465G>T, XM_006712627.5:c.573G>T, XM_006712627.4:c.573G>T, XM_006712627.3:c.573G>T, XM_006712627.2:c.573G>T, XM_006712627.1:c.573G>T, XM_005263710.3:c.714G>T, XM_005263710.2:c.714G>T, XM_005263710.1:c.714G>T, XM_024452983.2:c.906G>T, XM_024452983.1:c.906G>T, XM_011511453.2:c.870G>T, XM_011511453.1:c.870G>T, XM_024452985.2:c.465G>T, XM_024452985.1:c.465G>T, XM_024452986.2:c.465G>T, XM_024452986.1:c.465G>T, XM_017004469.2:c.612G>T, XM_017004469.1:c.612G>T, XM_047444975.1:c.465G>T, XM_047444976.1:c.465G>T, XM_047444970.1:c.798G>T, XM_047444963.1:c.978G>T, XM_047444972.1:c.660G>T, NR_027823.1:n.704G>T, NM_001161405.1:c.465G>T, NP_060450.2:p.Arg331Ser, NP_001129509.2:p.Arg329Ser, NP_001154875.1:p.Arg307Ser, NP_001154876.1:p.Arg302Ser, NP_001243471.1:p.Arg155Ser, XP_006712690.1:p.Arg191Ser, XP_005263767.1:p.Arg238Ser, XP_024308751.1:p.Arg302Ser, XP_011509755.1:p.Arg290Ser, XP_024308753.1:p.Arg155Ser, XP_024308754.1:p.Arg155Ser, XP_016859958.1:p.Arg204Ser, XP_047300931.1:p.Arg155Ser, XP_047300932.1:p.Arg155Ser, XP_047300926.1:p.Arg266Ser, XP_047300919.1:p.Arg326Ser, XP_047300928.1:p.Arg220Ser

          5.

          rs1476731857 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            2:127657497 (GRCh38)
            2:128415071 (GRCh37)
            Canonical SPDI:
            NC_000002.12:127657496:T:A
            Gene:
            LIMS2 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.127657497T>A, NC_000002.11:g.128415071T>A, NG_042235.1:g.29290A>T, NM_017980.5:c.149A>T, NM_017980.4:c.149A>T, NM_001136037.4:c.143A>T, NM_001136037.3:c.143A>T, NM_001136037.2:c.143A>T, NM_001161403.3:c.77A>T, NM_001161403.2:c.77A>T, NM_001161403.1:c.77A>T, NM_001161404.2:c.62A>T, NM_001161404.1:c.62A>T, XM_006712628.4:c.149A>T, XM_006712628.3:c.149A>T, XM_006712628.2:c.149A>T, XM_006712628.1:c.149A>T, XM_024452983.2:c.62A>T, XM_024452983.1:c.62A>T, XM_011511453.2:c.149A>T, XM_011511453.1:c.149A>T, XM_047444970.1:c.77A>T, XM_047444963.1:c.134A>T, XM_047444971.1:c.149A>T, NP_060450.2:p.Glu50Val, NP_001129509.2:p.Glu48Val, NP_001154875.1:p.Glu26Val, NP_001154876.1:p.Glu21Val, XP_006712691.1:p.Glu50Val, XP_024308751.1:p.Glu21Val, XP_011509755.1:p.Glu50Val, XP_047300926.1:p.Glu26Val, XP_047300919.1:p.Glu45Val, XP_047300927.1:p.Glu50Val

            6.

            rs1476186407 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              2:127657413 (GRCh38)
              2:128414987 (GRCh37)
              Canonical SPDI:
              NC_000002.12:127657412:A:G
              Gene:
              LIMS2 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000002.12:g.127657413A>G, NC_000002.11:g.128414987A>G, NG_042235.1:g.29374T>C, NM_017980.5:c.233T>C, NM_017980.4:c.233T>C, NM_001136037.4:c.227T>C, NM_001136037.3:c.227T>C, NM_001136037.2:c.227T>C, NM_001161403.3:c.161T>C, NM_001161403.2:c.161T>C, NM_001161403.1:c.161T>C, NM_001161404.2:c.146T>C, NM_001161404.1:c.146T>C, XM_006712628.4:c.233T>C, XM_006712628.3:c.233T>C, XM_006712628.2:c.233T>C, XM_006712628.1:c.233T>C, XM_024452983.2:c.146T>C, XM_024452983.1:c.146T>C, XM_011511453.2:c.233T>C, XM_011511453.1:c.233T>C, XM_047444970.1:c.161T>C, XM_047444963.1:c.218T>C, XM_047444971.1:c.233T>C, NP_060450.2:p.Leu78Pro, NP_001129509.2:p.Leu76Pro, NP_001154875.1:p.Leu54Pro, NP_001154876.1:p.Leu49Pro, XP_006712691.1:p.Leu78Pro, XP_024308751.1:p.Leu49Pro, XP_011509755.1:p.Leu78Pro, XP_047300926.1:p.Leu54Pro, XP_047300919.1:p.Leu73Pro, XP_047300927.1:p.Leu78Pro

              7.

              rs1473010006 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                2:127640093 (GRCh38)
                2:128397668 (GRCh37)
                Canonical SPDI:
                NC_000002.12:127640092:G:C
                Gene:
                LIMS2 (Varview)
                Functional Consequence:
                coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.127640093G>C, NC_000002.11:g.128397668G>C, NG_042235.1:g.46694C>G, NM_017980.5:c.927C>G, NM_017980.4:c.927C>G, NM_001136037.4:c.921C>G, NM_001136037.3:c.921C>G, NM_001136037.2:c.921C>G, NM_001161403.3:c.855C>G, NM_001161403.2:c.855C>G, NM_001161403.1:c.855C>G, NM_001161404.2:c.840C>G, NM_001161404.1:c.840C>G, NM_001256542.2:c.399C>G, NM_001256542.1:c.399C>G, XM_006712627.5:c.507C>G, XM_006712627.4:c.507C>G, XM_006712627.3:c.507C>G, XM_006712627.2:c.507C>G, XM_006712627.1:c.507C>G, XM_005263710.3:c.648C>G, XM_005263710.2:c.648C>G, XM_005263710.1:c.648C>G, XM_024452983.2:c.840C>G, XM_024452983.1:c.840C>G, XM_011511453.2:c.804C>G, XM_011511453.1:c.804C>G, XM_024452985.2:c.399C>G, XM_024452985.1:c.399C>G, XM_024452986.2:c.399C>G, XM_024452986.1:c.399C>G, XM_017004469.2:c.546C>G, XM_017004469.1:c.546C>G, XM_047444975.1:c.399C>G, XM_047444976.1:c.399C>G, XM_047444970.1:c.732C>G, XM_047444963.1:c.912C>G, XM_047444972.1:c.594C>G, NR_027823.1:n.638C>G, NM_001161405.1:c.399C>G

                8.

                rs1470024282 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  2:127664326 (GRCh38)
                  2:128421900 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:127664325:C:G
                  Gene:
                  LIMS2 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1465291377 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:127643041 (GRCh38)
                    2:128400616 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:127643040:T:C
                    Gene:
                    LIMS2 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.127643041T>C, NC_000002.11:g.128400616T>C, NG_042235.1:g.43746A>G, NM_017980.5:c.463A>G, NM_017980.4:c.463A>G, NM_001136037.4:c.457A>G, NM_001136037.3:c.457A>G, NM_001136037.2:c.457A>G, NM_001161403.3:c.391A>G, NM_001161403.2:c.391A>G, NM_001161403.1:c.391A>G, NM_001161404.2:c.376A>G, NM_001161404.1:c.376A>G, NM_001256542.2:c.-66A>G, NM_001256542.1:c.-66A>G, XM_006712627.5:c.43A>G, XM_006712627.4:c.43A>G, XM_006712627.3:c.43A>G, XM_006712627.2:c.43A>G, XM_006712627.1:c.43A>G, XM_005263710.3:c.184A>G, XM_005263710.2:c.184A>G, XM_005263710.1:c.184A>G, XM_024452983.2:c.376A>G, XM_024452983.1:c.376A>G, XM_011511453.2:c.463A>G, XM_011511453.1:c.463A>G, XM_024452985.2:c.-66A>G, XM_024452985.1:c.-66A>G, XM_024452986.2:c.-66A>G, XM_024452986.1:c.-66A>G, XM_047444975.1:c.-66A>G, XM_047444976.1:c.-66A>G, XM_047444970.1:c.391A>G, XM_047444963.1:c.448A>G, XM_047444972.1:c.130A>G, NR_027823.1:n.174A>G, NM_001161405.1:c.-66A>G, XM_047444971.1:c.463A>G, NP_060450.2:p.Lys155Glu, NP_001129509.2:p.Lys153Glu, NP_001154875.1:p.Lys131Glu, NP_001154876.1:p.Lys126Glu, XP_006712690.1:p.Lys15Glu, XP_005263767.1:p.Lys62Glu, XP_024308751.1:p.Lys126Glu, XP_011509755.1:p.Lys155Glu, XP_047300926.1:p.Lys131Glu, XP_047300919.1:p.Lys150Glu, XP_047300928.1:p.Lys44Glu, XP_047300927.1:p.Lys155Glu

                    10.

                    rs1460705522 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      2:127640289 (GRCh38)
                      2:128397864 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:127640288:G:T
                      Gene:
                      LIMS2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_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)
                      T=0.001026/17 (TOMMO)
                      HGVS:
                      NC_000002.12:g.127640289G>T, NC_000002.11:g.128397864G>T, NG_042235.1:g.46498C>A, NM_017980.5:c.855C>A, NM_017980.4:c.855C>A, NM_001136037.4:c.849C>A, NM_001136037.3:c.849C>A, NM_001136037.2:c.849C>A, NM_001161403.3:c.783C>A, NM_001161403.2:c.783C>A, NM_001161403.1:c.783C>A, NM_001161404.2:c.768C>A, NM_001161404.1:c.768C>A, NM_001256542.2:c.327C>A, NM_001256542.1:c.327C>A, XM_006712627.5:c.435C>A, XM_006712627.4:c.435C>A, XM_006712627.3:c.435C>A, XM_006712627.2:c.435C>A, XM_006712627.1:c.435C>A, XM_005263710.3:c.576C>A, XM_005263710.2:c.576C>A, XM_005263710.1:c.576C>A, XM_024452983.2:c.768C>A, XM_024452983.1:c.768C>A, XM_011511453.2:c.732C>A, XM_011511453.1:c.732C>A, XM_024452985.2:c.327C>A, XM_024452985.1:c.327C>A, XM_024452986.2:c.327C>A, XM_024452986.1:c.327C>A, XM_017004469.2:c.474C>A, XM_017004469.1:c.474C>A, XM_047444975.1:c.327C>A, XM_047444976.1:c.327C>A, XM_047444970.1:c.660C>A, XM_047444963.1:c.840C>A, XM_047444972.1:c.522C>A, NR_027823.1:n.566C>A, NM_001161405.1:c.327C>A, XM_047444971.1:c.*49C>A, NP_060450.2:p.Ser285Arg, NP_001129509.2:p.Ser283Arg, NP_001154875.1:p.Ser261Arg, NP_001154876.1:p.Ser256Arg, NP_001243471.1:p.Ser109Arg, XP_006712690.1:p.Ser145Arg, XP_005263767.1:p.Ser192Arg, XP_024308751.1:p.Ser256Arg, XP_011509755.1:p.Ser244Arg, XP_024308753.1:p.Ser109Arg, XP_024308754.1:p.Ser109Arg, XP_016859958.1:p.Ser158Arg, XP_047300931.1:p.Ser109Arg, XP_047300932.1:p.Ser109Arg, XP_047300926.1:p.Ser220Arg, XP_047300919.1:p.Ser280Arg, XP_047300928.1:p.Ser174Arg

                      11.

                      rs1455735507 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        2:127664377 (GRCh38)
                        2:128421951 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:127664376:C:G,NC_000002.12:127664376:C:T
                        Gene:
                        LIMS2 (Varview)
                        Functional Consequence:
                        synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1454757617 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:127654895 (GRCh38)
                          2:128412469 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:127654894:A:G
                          Gene:
                          LIMS2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000002.12:g.127654895A>G, NC_000002.11:g.128412469A>G, NG_042235.1:g.31892T>C, NM_017980.5:c.245T>C, NM_017980.4:c.245T>C, NM_001136037.4:c.239T>C, NM_001136037.3:c.239T>C, NM_001136037.2:c.239T>C, NM_001161403.3:c.173T>C, NM_001161403.2:c.173T>C, NM_001161403.1:c.173T>C, NM_001161404.2:c.158T>C, NM_001161404.1:c.158T>C, XM_006712628.4:c.245T>C, XM_006712628.3:c.245T>C, XM_006712628.2:c.245T>C, XM_006712628.1:c.245T>C, XM_005263710.3:c.-35T>C, XM_005263710.2:c.-35T>C, XM_005263710.1:c.-35T>C, XM_024452983.2:c.158T>C, XM_024452983.1:c.158T>C, XM_011511453.2:c.245T>C, XM_011511453.1:c.245T>C, XM_047444970.1:c.173T>C, XM_047444963.1:c.230T>C, XM_047444971.1:c.245T>C, NP_060450.2:p.Phe82Ser, NP_001129509.2:p.Phe80Ser, NP_001154875.1:p.Phe58Ser, NP_001154876.1:p.Phe53Ser, XP_006712691.1:p.Phe82Ser, XP_024308751.1:p.Phe53Ser, XP_011509755.1:p.Phe82Ser, XP_047300926.1:p.Phe58Ser, XP_047300919.1:p.Phe77Ser, XP_047300927.1:p.Phe82Ser

                          13.

                          rs1454700502 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            2:127639361 (GRCh38)
                            2:128396936 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:127639360:G:A,NC_000002.12:127639360:G:C
                            Gene:
                            LIMS2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000002.12:g.127639361G>A, NC_000002.12:g.127639361G>C, NC_000002.11:g.128396936G>A, NC_000002.11:g.128396936G>C, NG_052848.1:g.108673G>A, NG_052848.1:g.108673G>C, NG_042235.1:g.47426C>T, NG_042235.1:g.47426C>G, NM_017980.5:c.1018C>T, NM_017980.5:c.1018C>G, NM_017980.4:c.1018C>T, NM_017980.4:c.1018C>G, NM_001136037.4:c.1012C>T, NM_001136037.4:c.1012C>G, NM_001136037.3:c.1012C>T, NM_001136037.3:c.1012C>G, NM_001136037.2:c.1012C>T, NM_001136037.2:c.1012C>G, NM_001161403.3:c.946C>T, NM_001161403.3:c.946C>G, NM_001161403.2:c.946C>T, NM_001161403.2:c.946C>G, NM_001161403.1:c.946C>T, NM_001161403.1:c.946C>G, NM_001161404.2:c.931C>T, NM_001161404.2:c.931C>G, NM_001161404.1:c.931C>T, NM_001161404.1:c.931C>G, NM_001256542.2:c.490C>T, NM_001256542.2:c.490C>G, NM_001256542.1:c.490C>T, NM_001256542.1:c.490C>G, XM_006712627.5:c.598C>T, XM_006712627.5:c.598C>G, XM_006712627.4:c.598C>T, XM_006712627.4:c.598C>G, XM_006712627.3:c.598C>T, XM_006712627.3:c.598C>G, XM_006712627.2:c.598C>T, XM_006712627.2:c.598C>G, XM_006712627.1:c.598C>T, XM_006712627.1:c.598C>G, XM_005263710.3:c.739C>T, XM_005263710.3:c.739C>G, XM_005263710.2:c.739C>T, XM_005263710.2:c.739C>G, XM_005263710.1:c.739C>T, XM_005263710.1:c.739C>G, XM_024452983.2:c.931C>T, XM_024452983.2:c.931C>G, XM_024452983.1:c.931C>T, XM_024452983.1:c.931C>G, XM_011511453.2:c.895C>T, XM_011511453.2:c.895C>G, XM_011511453.1:c.895C>T, XM_011511453.1:c.895C>G, XM_024452985.2:c.490C>T, XM_024452985.2:c.490C>G, XM_024452985.1:c.490C>T, XM_024452985.1:c.490C>G, XM_024452986.2:c.490C>T, XM_024452986.2:c.490C>G, XM_024452986.1:c.490C>T, XM_024452986.1:c.490C>G, XM_017004469.2:c.637C>T, XM_017004469.2:c.637C>G, XM_017004469.1:c.637C>T, XM_017004469.1:c.637C>G, XM_047444975.1:c.490C>T, XM_047444975.1:c.490C>G, XM_047444976.1:c.490C>T, XM_047444976.1:c.490C>G, XM_047444970.1:c.823C>T, XM_047444970.1:c.823C>G, XM_047444963.1:c.1003C>T, XM_047444963.1:c.1003C>G, XM_047444972.1:c.685C>T, XM_047444972.1:c.685C>G, NR_027823.1:n.729C>T, NR_027823.1:n.729C>G, NM_001161405.1:c.490C>T, NM_001161405.1:c.490C>G, NP_060450.2:p.Leu340Val, NP_001129509.2:p.Leu338Val, NP_001154875.1:p.Leu316Val, NP_001154876.1:p.Leu311Val, NP_001243471.1:p.Leu164Val, XP_006712690.1:p.Leu200Val, XP_005263767.1:p.Leu247Val, XP_024308751.1:p.Leu311Val, XP_011509755.1:p.Leu299Val, XP_024308753.1:p.Leu164Val, XP_024308754.1:p.Leu164Val, XP_016859958.1:p.Leu213Val, XP_047300931.1:p.Leu164Val, XP_047300932.1:p.Leu164Val, XP_047300926.1:p.Leu275Val, XP_047300919.1:p.Leu335Val, XP_047300928.1:p.Leu229Val

                            14.

                            rs1454681818 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:127640102 (GRCh38)
                              2:128397677 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:127640101:G:A
                              Gene:
                              LIMS2 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000002.12:g.127640102G>A, NC_000002.11:g.128397677G>A, NG_042235.1:g.46685C>T, NM_017980.5:c.918C>T, NM_017980.4:c.918C>T, NM_001136037.4:c.912C>T, NM_001136037.3:c.912C>T, NM_001136037.2:c.912C>T, NM_001161403.3:c.846C>T, NM_001161403.2:c.846C>T, NM_001161403.1:c.846C>T, NM_001161404.2:c.831C>T, NM_001161404.1:c.831C>T, NM_001256542.2:c.390C>T, NM_001256542.1:c.390C>T, XM_006712627.5:c.498C>T, XM_006712627.4:c.498C>T, XM_006712627.3:c.498C>T, XM_006712627.2:c.498C>T, XM_006712627.1:c.498C>T, XM_005263710.3:c.639C>T, XM_005263710.2:c.639C>T, XM_005263710.1:c.639C>T, XM_024452983.2:c.831C>T, XM_024452983.1:c.831C>T, XM_011511453.2:c.795C>T, XM_011511453.1:c.795C>T, XM_024452985.2:c.390C>T, XM_024452985.1:c.390C>T, XM_024452986.2:c.390C>T, XM_024452986.1:c.390C>T, XM_017004469.2:c.537C>T, XM_017004469.1:c.537C>T, XM_047444975.1:c.390C>T, XM_047444976.1:c.390C>T, XM_047444970.1:c.723C>T, XM_047444963.1:c.903C>T, XM_047444972.1:c.585C>T, NR_027823.1:n.629C>T, NM_001161405.1:c.390C>T

                              15.

                              rs1453787866 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:127654522 (GRCh38)
                                2:128412096 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:127654521:G:A
                                Gene:
                                LIMS2 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1450454255 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  2:127657411 (GRCh38)
                                  2:128414985 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:127657410:A:C
                                  Gene:
                                  LIMS2 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.127657411A>C, NC_000002.11:g.128414985A>C, NG_042235.1:g.29376T>G, NM_017980.5:c.235T>G, NM_017980.4:c.235T>G, NM_001136037.4:c.229T>G, NM_001136037.3:c.229T>G, NM_001136037.2:c.229T>G, NM_001161403.3:c.163T>G, NM_001161403.2:c.163T>G, NM_001161403.1:c.163T>G, NM_001161404.2:c.148T>G, NM_001161404.1:c.148T>G, XM_006712628.4:c.235T>G, XM_006712628.3:c.235T>G, XM_006712628.2:c.235T>G, XM_006712628.1:c.235T>G, XM_024452983.2:c.148T>G, XM_024452983.1:c.148T>G, XM_011511453.2:c.235T>G, XM_011511453.1:c.235T>G, XM_047444970.1:c.163T>G, XM_047444963.1:c.220T>G, XM_047444971.1:c.235T>G, NP_060450.2:p.Phe79Val, NP_001129509.2:p.Phe77Val, NP_001154875.1:p.Phe55Val, NP_001154876.1:p.Phe50Val, XP_006712691.1:p.Phe79Val, XP_024308751.1:p.Phe50Val, XP_011509755.1:p.Phe79Val, XP_047300926.1:p.Phe55Val, XP_047300919.1:p.Phe74Val, XP_047300927.1:p.Phe79Val

                                  17.

                                  rs1448984372 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:127639349 (GRCh38)
                                    2:128396924 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:127639348:G:A
                                    Gene:
                                    LIMS2 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,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.127639349G>A, NC_000002.11:g.128396924G>A, NG_052848.1:g.108661G>A, NG_042235.1:g.47438C>T, NM_017980.5:c.1030C>T, NM_017980.4:c.1030C>T, NM_001136037.4:c.1024C>T, NM_001136037.3:c.1024C>T, NM_001136037.2:c.1024C>T, NM_001161403.3:c.958C>T, NM_001161403.2:c.958C>T, NM_001161403.1:c.958C>T, NM_001161404.2:c.943C>T, NM_001161404.1:c.943C>T, NM_001256542.2:c.502C>T, NM_001256542.1:c.502C>T, XM_006712627.5:c.610C>T, XM_006712627.4:c.610C>T, XM_006712627.3:c.610C>T, XM_006712627.2:c.610C>T, XM_006712627.1:c.610C>T, XM_005263710.3:c.751C>T, XM_005263710.2:c.751C>T, XM_005263710.1:c.751C>T, XM_024452983.2:c.943C>T, XM_024452983.1:c.943C>T, XM_011511453.2:c.907C>T, XM_011511453.1:c.907C>T, XM_024452985.2:c.502C>T, XM_024452985.1:c.502C>T, XM_024452986.2:c.502C>T, XM_024452986.1:c.502C>T, XM_017004469.2:c.649C>T, XM_017004469.1:c.649C>T, XM_047444975.1:c.502C>T, XM_047444976.1:c.502C>T, XM_047444970.1:c.835C>T, XM_047444963.1:c.1015C>T, XM_047444972.1:c.697C>T, NR_027823.1:n.741C>T, NM_001161405.1:c.502C>T

                                    18.

                                    rs1437803798 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      2:127657531 (GRCh38)
                                      2:128415105 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:127657530:A:C
                                      Gene:
                                      LIMS2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.127657531A>C, NC_000002.11:g.128415105A>C, NG_042235.1:g.29256T>G, NM_017980.5:c.115T>G, NM_017980.4:c.115T>G, NM_001136037.4:c.109T>G, NM_001136037.3:c.109T>G, NM_001136037.2:c.109T>G, NM_001161403.3:c.43T>G, NM_001161403.2:c.43T>G, NM_001161403.1:c.43T>G, NM_001161404.2:c.28T>G, NM_001161404.1:c.28T>G, XM_006712628.4:c.115T>G, XM_006712628.3:c.115T>G, XM_006712628.2:c.115T>G, XM_006712628.1:c.115T>G, XM_024452983.2:c.28T>G, XM_024452983.1:c.28T>G, XM_011511453.2:c.115T>G, XM_011511453.1:c.115T>G, XM_047444970.1:c.43T>G, XM_047444963.1:c.100T>G, XM_047444971.1:c.115T>G, NP_060450.2:p.Cys39Gly, NP_001129509.2:p.Cys37Gly, NP_001154875.1:p.Cys15Gly, NP_001154876.1:p.Cys10Gly, XP_006712691.1:p.Cys39Gly, XP_024308751.1:p.Cys10Gly, XP_011509755.1:p.Cys39Gly, XP_047300926.1:p.Cys15Gly, XP_047300919.1:p.Cys34Gly, XP_047300927.1:p.Cys39Gly

                                      19.

                                      rs1432539290 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:127642938 (GRCh38)
                                        2:128400513 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:127642937:T:C
                                        Gene:
                                        LIMS2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000028/1 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        C=0.000043/6 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.127642938T>C, NC_000002.11:g.128400513T>C, NG_042235.1:g.43849A>G, NM_017980.5:c.566A>G, NM_017980.4:c.566A>G, NM_001136037.4:c.560A>G, NM_001136037.3:c.560A>G, NM_001136037.2:c.560A>G, NM_001161403.3:c.494A>G, NM_001161403.2:c.494A>G, NM_001161403.1:c.494A>G, NM_001161404.2:c.479A>G, NM_001161404.1:c.479A>G, NM_001256542.2:c.38A>G, NM_001256542.1:c.38A>G, XM_006712627.5:c.146A>G, XM_006712627.4:c.146A>G, XM_006712627.3:c.146A>G, XM_006712627.2:c.146A>G, XM_006712627.1:c.146A>G, XM_005263710.3:c.287A>G, XM_005263710.2:c.287A>G, XM_005263710.1:c.287A>G, XM_024452983.2:c.479A>G, XM_024452983.1:c.479A>G, XM_011511453.2:c.566A>G, XM_011511453.1:c.566A>G, XM_024452985.2:c.38A>G, XM_024452985.1:c.38A>G, XM_024452986.2:c.38A>G, XM_024452986.1:c.38A>G, XM_047444975.1:c.38A>G, XM_047444976.1:c.38A>G, XM_047444970.1:c.494A>G, XM_047444963.1:c.551A>G, XM_047444972.1:c.233A>G, NR_027823.1:n.277A>G, NM_001161405.1:c.38A>G, XM_047444971.1:c.566A>G, NP_060450.2:p.Asn189Ser, NP_001129509.2:p.Asn187Ser, NP_001154875.1:p.Asn165Ser, NP_001154876.1:p.Asn160Ser, NP_001243471.1:p.Asn13Ser, XP_006712690.1:p.Asn49Ser, XP_005263767.1:p.Asn96Ser, XP_024308751.1:p.Asn160Ser, XP_011509755.1:p.Asn189Ser, XP_024308753.1:p.Asn13Ser, XP_024308754.1:p.Asn13Ser, XP_047300931.1:p.Asn13Ser, XP_047300932.1:p.Asn13Ser, XP_047300926.1:p.Asn165Ser, XP_047300919.1:p.Asn184Ser, XP_047300928.1:p.Asn78Ser, XP_047300927.1:p.Asn189Ser

                                        20.

                                        rs1430115290 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          2:127664364 (GRCh38)
                                          2:128421938 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:127664363:CC:C
                                          Gene:
                                          LIMS2 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          CC=0./0 (ALFA)
                                          HGVS:

                                          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...