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Items: 1 to 20 of 488

1.

rs1490828417 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    15:74133945 (GRCh38)
    15:74426286 (GRCh37)
    Canonical SPDI:
    NC_000015.10:74133944:C:A
    Gene:
    ISLR2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
    HGVS:
    NC_000015.10:g.74133945C>A, NC_000015.9:g.74426286C>A, XM_011521840.4:c.1191C>A, XM_011521840.3:c.1191C>A, XM_011521840.2:c.1191C>A, XM_011521840.1:c.1191C>A, XR_931875.4:n.1377C>A, XR_931875.3:n.1529C>A, XR_931875.2:n.1631C>A, XR_931875.1:n.1309C>A, NM_020851.3:c.1191C>A, NM_020851.2:c.1191C>A, XM_017022446.3:c.1191C>A, XM_017022446.2:c.1191C>A, XM_017022446.1:c.1191C>A, XM_024450005.2:c.1191C>A, XM_024450005.1:c.1191C>A, XM_011521841.2:c.1191C>A, XM_011521841.1:c.1191C>A, XM_024450003.2:c.1191C>A, XM_024450003.1:c.1191C>A, XM_024450004.2:c.1191C>A, XM_024450004.1:c.1191C>A, XM_024450006.2:c.1191C>A, XM_024450006.1:c.1191C>A, XM_024450007.2:c.1191C>A, XM_024450007.1:c.1191C>A, NM_001130138.2:c.1191C>A, NM_001130138.1:c.1191C>A, XM_024450008.2:c.1191C>A, XM_024450008.1:c.1191C>A, NM_001130136.1:c.1191C>A, NM_001130137.1:c.1191C>A, XM_047432905.1:c.1191C>A

    2.

    rs1490402732 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      15:74133649 (GRCh38)
      15:74425990 (GRCh37)
      Canonical SPDI:
      NC_000015.10:74133648:G:A
      Gene:
      ISLR2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.74133649G>A, NC_000015.9:g.74425990G>A, XM_011521840.4:c.895G>A, XM_011521840.3:c.895G>A, XM_011521840.2:c.895G>A, XM_011521840.1:c.895G>A, XR_931875.4:n.1081G>A, XR_931875.3:n.1233G>A, XR_931875.2:n.1335G>A, XR_931875.1:n.1013G>A, NM_020851.3:c.895G>A, NM_020851.2:c.895G>A, XM_017022446.3:c.895G>A, XM_017022446.2:c.895G>A, XM_017022446.1:c.895G>A, XM_024450005.2:c.895G>A, XM_024450005.1:c.895G>A, XM_011521841.2:c.895G>A, XM_011521841.1:c.895G>A, XM_024450003.2:c.895G>A, XM_024450003.1:c.895G>A, XM_024450004.2:c.895G>A, XM_024450004.1:c.895G>A, XM_024450006.2:c.895G>A, XM_024450006.1:c.895G>A, XM_024450007.2:c.895G>A, XM_024450007.1:c.895G>A, NM_001130138.2:c.895G>A, NM_001130138.1:c.895G>A, XM_024450008.2:c.895G>A, XM_024450008.1:c.895G>A, NM_001130136.1:c.895G>A, NM_001130137.1:c.895G>A, XM_047432905.1:c.895G>A, XP_011520142.1:p.Glu299Lys, NP_065902.1:p.Glu299Lys, XP_016877935.1:p.Glu299Lys, XP_024305773.1:p.Glu299Lys, XP_011520143.1:p.Glu299Lys, XP_024305771.1:p.Glu299Lys, XP_024305772.1:p.Glu299Lys, XP_024305774.1:p.Glu299Lys, XP_024305775.1:p.Glu299Lys, NP_001123610.1:p.Glu299Lys, XP_024305776.1:p.Glu299Lys, NP_001123608.1:p.Glu299Lys, NP_001123609.1:p.Glu299Lys, XP_047288861.1:p.Glu299Lys

      3.

      rs1490082809 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:74133031 (GRCh38)
        15:74425372 (GRCh37)
        Canonical SPDI:
        NC_000015.10:74133030:G:A
        Gene:
        ISLR2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,non_coding_transcript_variant
        HGVS:
        NC_000015.10:g.74133031G>A, NC_000015.9:g.74425372G>A, XM_011521840.4:c.277G>A, XM_011521840.3:c.277G>A, XM_011521840.2:c.277G>A, XM_011521840.1:c.277G>A, XR_931875.4:n.463G>A, XR_931875.3:n.615G>A, XR_931875.2:n.717G>A, XR_931875.1:n.395G>A, NM_020851.3:c.277G>A, NM_020851.2:c.277G>A, XM_017022446.3:c.277G>A, XM_017022446.2:c.277G>A, XM_017022446.1:c.277G>A, XM_024450005.2:c.277G>A, XM_024450005.1:c.277G>A, XM_011521841.2:c.277G>A, XM_011521841.1:c.277G>A, XM_024450003.2:c.277G>A, XM_024450003.1:c.277G>A, XM_024450004.2:c.277G>A, XM_024450004.1:c.277G>A, XM_024450006.2:c.277G>A, XM_024450006.1:c.277G>A, XM_024450007.2:c.277G>A, XM_024450007.1:c.277G>A, NM_001130138.2:c.277G>A, NM_001130138.1:c.277G>A, XM_024450008.2:c.277G>A, XM_024450008.1:c.277G>A, NM_001130136.1:c.277G>A, NM_001130137.1:c.277G>A, XM_047432905.1:c.277G>A, XP_011520142.1:p.Gly93Ser, NP_065902.1:p.Gly93Ser, XP_016877935.1:p.Gly93Ser, XP_024305773.1:p.Gly93Ser, XP_011520143.1:p.Gly93Ser, XP_024305771.1:p.Gly93Ser, XP_024305772.1:p.Gly93Ser, XP_024305774.1:p.Gly93Ser, XP_024305775.1:p.Gly93Ser, NP_001123610.1:p.Gly93Ser, XP_024305776.1:p.Gly93Ser, NP_001123608.1:p.Gly93Ser, NP_001123609.1:p.Gly93Ser, XP_047288861.1:p.Gly93Ser

        4.

        rs1488849247 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          15:74134048 (GRCh38)
          15:74426389 (GRCh37)
          Canonical SPDI:
          NC_000015.10:74134047:G:A
          Gene:
          ISLR2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_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:
          NC_000015.10:g.74134048G>A, NC_000015.9:g.74426389G>A, XM_011521840.4:c.1294G>A, XM_011521840.3:c.1294G>A, XM_011521840.2:c.1294G>A, XM_011521840.1:c.1294G>A, XR_931875.4:n.1480G>A, XR_931875.3:n.1632G>A, XR_931875.2:n.1734G>A, XR_931875.1:n.1412G>A, NM_020851.3:c.1294G>A, NM_020851.2:c.1294G>A, XM_017022446.3:c.1294G>A, XM_017022446.2:c.1294G>A, XM_017022446.1:c.1294G>A, XM_024450005.2:c.1294G>A, XM_024450005.1:c.1294G>A, XM_011521841.2:c.1294G>A, XM_011521841.1:c.1294G>A, XM_024450003.2:c.1294G>A, XM_024450003.1:c.1294G>A, XM_024450004.2:c.1294G>A, XM_024450004.1:c.1294G>A, XM_024450006.2:c.1294G>A, XM_024450006.1:c.1294G>A, XM_024450007.2:c.1294G>A, XM_024450007.1:c.1294G>A, NM_001130138.2:c.1294G>A, NM_001130138.1:c.1294G>A, XM_024450008.2:c.1294G>A, XM_024450008.1:c.1294G>A, NM_001130136.1:c.1294G>A, NM_001130137.1:c.1294G>A, XM_047432905.1:c.1294G>A, XP_011520142.1:p.Glu432Lys, NP_065902.1:p.Glu432Lys, XP_016877935.1:p.Glu432Lys, XP_024305773.1:p.Glu432Lys, XP_011520143.1:p.Glu432Lys, XP_024305771.1:p.Glu432Lys, XP_024305772.1:p.Glu432Lys, XP_024305774.1:p.Glu432Lys, XP_024305775.1:p.Glu432Lys, NP_001123610.1:p.Glu432Lys, XP_024305776.1:p.Glu432Lys, NP_001123608.1:p.Glu432Lys, NP_001123609.1:p.Glu432Lys, XP_047288861.1:p.Glu432Lys

          5.

          rs1488616974 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            15:74132956 (GRCh38)
            15:74425297 (GRCh37)
            Canonical SPDI:
            NC_000015.10:74132955:C:G,NC_000015.10:74132955:C:T
            Gene:
            ISLR2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.74132956C>G, NC_000015.10:g.74132956C>T, NC_000015.9:g.74425297C>G, NC_000015.9:g.74425297C>T, XM_011521840.4:c.202C>G, XM_011521840.4:c.202C>T, XM_011521840.3:c.202C>G, XM_011521840.3:c.202C>T, XM_011521840.2:c.202C>G, XM_011521840.2:c.202C>T, XM_011521840.1:c.202C>G, XM_011521840.1:c.202C>T, XR_931875.4:n.388C>G, XR_931875.4:n.388C>T, XR_931875.3:n.540C>G, XR_931875.3:n.540C>T, XR_931875.2:n.642C>G, XR_931875.2:n.642C>T, XR_931875.1:n.320C>G, XR_931875.1:n.320C>T, NM_020851.3:c.202C>G, NM_020851.3:c.202C>T, NM_020851.2:c.202C>G, NM_020851.2:c.202C>T, XM_017022446.3:c.202C>G, XM_017022446.3:c.202C>T, XM_017022446.2:c.202C>G, XM_017022446.2:c.202C>T, XM_017022446.1:c.202C>G, XM_017022446.1:c.202C>T, XM_024450005.2:c.202C>G, XM_024450005.2:c.202C>T, XM_024450005.1:c.202C>G, XM_024450005.1:c.202C>T, XM_011521841.2:c.202C>G, XM_011521841.2:c.202C>T, XM_011521841.1:c.202C>G, XM_011521841.1:c.202C>T, XM_024450003.2:c.202C>G, XM_024450003.2:c.202C>T, XM_024450003.1:c.202C>G, XM_024450003.1:c.202C>T, XM_024450004.2:c.202C>G, XM_024450004.2:c.202C>T, XM_024450004.1:c.202C>G, XM_024450004.1:c.202C>T, XM_024450006.2:c.202C>G, XM_024450006.2:c.202C>T, XM_024450006.1:c.202C>G, XM_024450006.1:c.202C>T, XM_024450007.2:c.202C>G, XM_024450007.2:c.202C>T, XM_024450007.1:c.202C>G, XM_024450007.1:c.202C>T, NM_001130138.2:c.202C>G, NM_001130138.2:c.202C>T, NM_001130138.1:c.202C>G, NM_001130138.1:c.202C>T, XM_024450008.2:c.202C>G, XM_024450008.2:c.202C>T, XM_024450008.1:c.202C>G, XM_024450008.1:c.202C>T, NM_001130136.1:c.202C>G, NM_001130136.1:c.202C>T, NM_001130137.1:c.202C>G, NM_001130137.1:c.202C>T, XM_047432905.1:c.202C>G, XM_047432905.1:c.202C>T, XP_011520142.1:p.Arg68Gly, XP_011520142.1:p.Arg68Cys, NP_065902.1:p.Arg68Gly, NP_065902.1:p.Arg68Cys, XP_016877935.1:p.Arg68Gly, XP_016877935.1:p.Arg68Cys, XP_024305773.1:p.Arg68Gly, XP_024305773.1:p.Arg68Cys, XP_011520143.1:p.Arg68Gly, XP_011520143.1:p.Arg68Cys, XP_024305771.1:p.Arg68Gly, XP_024305771.1:p.Arg68Cys, XP_024305772.1:p.Arg68Gly, XP_024305772.1:p.Arg68Cys, XP_024305774.1:p.Arg68Gly, XP_024305774.1:p.Arg68Cys, XP_024305775.1:p.Arg68Gly, XP_024305775.1:p.Arg68Cys, NP_001123610.1:p.Arg68Gly, NP_001123610.1:p.Arg68Cys, XP_024305776.1:p.Arg68Gly, XP_024305776.1:p.Arg68Cys, NP_001123608.1:p.Arg68Gly, NP_001123608.1:p.Arg68Cys, NP_001123609.1:p.Arg68Gly, NP_001123609.1:p.Arg68Cys, XP_047288861.1:p.Arg68Gly, XP_047288861.1:p.Arg68Cys

            6.

            rs1484509629 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              15:74133130 (GRCh38)
              15:74425471 (GRCh37)
              Canonical SPDI:
              NC_000015.10:74133129:C:T
              Gene:
              ISLR2 (Varview)
              Functional Consequence:
              stop_gained,coding_sequence_variant,non_coding_transcript_variant
              HGVS:
              NC_000015.10:g.74133130C>T, NC_000015.9:g.74425471C>T, XM_011521840.4:c.376C>T, XM_011521840.3:c.376C>T, XM_011521840.2:c.376C>T, XM_011521840.1:c.376C>T, XR_931875.4:n.562C>T, XR_931875.3:n.714C>T, XR_931875.2:n.816C>T, XR_931875.1:n.494C>T, NM_020851.3:c.376C>T, NM_020851.2:c.376C>T, XM_017022446.3:c.376C>T, XM_017022446.2:c.376C>T, XM_017022446.1:c.376C>T, XM_024450005.2:c.376C>T, XM_024450005.1:c.376C>T, XM_011521841.2:c.376C>T, XM_011521841.1:c.376C>T, XM_024450003.2:c.376C>T, XM_024450003.1:c.376C>T, XM_024450004.2:c.376C>T, XM_024450004.1:c.376C>T, XM_024450006.2:c.376C>T, XM_024450006.1:c.376C>T, XM_024450007.2:c.376C>T, XM_024450007.1:c.376C>T, NM_001130138.2:c.376C>T, NM_001130138.1:c.376C>T, XM_024450008.2:c.376C>T, XM_024450008.1:c.376C>T, NM_001130136.1:c.376C>T, NM_001130137.1:c.376C>T, XM_047432905.1:c.376C>T, XP_011520142.1:p.Gln126Ter, NP_065902.1:p.Gln126Ter, XP_016877935.1:p.Gln126Ter, XP_024305773.1:p.Gln126Ter, XP_011520143.1:p.Gln126Ter, XP_024305771.1:p.Gln126Ter, XP_024305772.1:p.Gln126Ter, XP_024305774.1:p.Gln126Ter, XP_024305775.1:p.Gln126Ter, NP_001123610.1:p.Gln126Ter, XP_024305776.1:p.Gln126Ter, NP_001123608.1:p.Gln126Ter, NP_001123609.1:p.Gln126Ter, XP_047288861.1:p.Gln126Ter

              7.

              rs1482339938 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                15:74133104 (GRCh38)
                15:74425445 (GRCh37)
                Canonical SPDI:
                NC_000015.10:74133103:G:A
                Gene:
                ISLR2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000015.10:g.74133104G>A, NC_000015.9:g.74425445G>A, XM_011521840.4:c.350G>A, XM_011521840.3:c.350G>A, XM_011521840.2:c.350G>A, XM_011521840.1:c.350G>A, XR_931875.4:n.536G>A, XR_931875.3:n.688G>A, XR_931875.2:n.790G>A, XR_931875.1:n.468G>A, NM_020851.3:c.350G>A, NM_020851.2:c.350G>A, XM_017022446.3:c.350G>A, XM_017022446.2:c.350G>A, XM_017022446.1:c.350G>A, XM_024450005.2:c.350G>A, XM_024450005.1:c.350G>A, XM_011521841.2:c.350G>A, XM_011521841.1:c.350G>A, XM_024450003.2:c.350G>A, XM_024450003.1:c.350G>A, XM_024450004.2:c.350G>A, XM_024450004.1:c.350G>A, XM_024450006.2:c.350G>A, XM_024450006.1:c.350G>A, XM_024450007.2:c.350G>A, XM_024450007.1:c.350G>A, NM_001130138.2:c.350G>A, NM_001130138.1:c.350G>A, XM_024450008.2:c.350G>A, XM_024450008.1:c.350G>A, NM_001130136.1:c.350G>A, NM_001130137.1:c.350G>A, XM_047432905.1:c.350G>A, XP_011520142.1:p.Ser117Asn, NP_065902.1:p.Ser117Asn, XP_016877935.1:p.Ser117Asn, XP_024305773.1:p.Ser117Asn, XP_011520143.1:p.Ser117Asn, XP_024305771.1:p.Ser117Asn, XP_024305772.1:p.Ser117Asn, XP_024305774.1:p.Ser117Asn, XP_024305775.1:p.Ser117Asn, NP_001123610.1:p.Ser117Asn, XP_024305776.1:p.Ser117Asn, NP_001123608.1:p.Ser117Asn, NP_001123609.1:p.Ser117Asn, XP_047288861.1:p.Ser117Asn

                8.

                rs1482089209 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:74134130 (GRCh38)
                  15:74426471 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:74134129:G:A
                  Gene:
                  ISLR2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  HGVS:
                  NC_000015.10:g.74134130G>A, NC_000015.9:g.74426471G>A, XM_011521840.4:c.1376G>A, XM_011521840.3:c.1376G>A, XM_011521840.2:c.1376G>A, XM_011521840.1:c.1376G>A, XR_931875.4:n.1562G>A, XR_931875.3:n.1714G>A, XR_931875.2:n.1816G>A, XR_931875.1:n.1494G>A, NM_020851.3:c.1376G>A, NM_020851.2:c.1376G>A, XM_017022446.3:c.1376G>A, XM_017022446.2:c.1376G>A, XM_017022446.1:c.1376G>A, XM_024450005.2:c.1376G>A, XM_024450005.1:c.1376G>A, XM_011521841.2:c.1376G>A, XM_011521841.1:c.1376G>A, XM_024450003.2:c.1376G>A, XM_024450003.1:c.1376G>A, XM_024450004.2:c.1376G>A, XM_024450004.1:c.1376G>A, XM_024450006.2:c.1376G>A, XM_024450006.1:c.1376G>A, XM_024450007.2:c.1376G>A, XM_024450007.1:c.1376G>A, NM_001130138.2:c.1376G>A, NM_001130138.1:c.1376G>A, XM_024450008.2:c.1376G>A, XM_024450008.1:c.1376G>A, NM_001130136.1:c.1376G>A, NM_001130137.1:c.1376G>A, XM_047432905.1:c.1376G>A, XP_011520142.1:p.Cys459Tyr, NP_065902.1:p.Cys459Tyr, XP_016877935.1:p.Cys459Tyr, XP_024305773.1:p.Cys459Tyr, XP_011520143.1:p.Cys459Tyr, XP_024305771.1:p.Cys459Tyr, XP_024305772.1:p.Cys459Tyr, XP_024305774.1:p.Cys459Tyr, XP_024305775.1:p.Cys459Tyr, NP_001123610.1:p.Cys459Tyr, XP_024305776.1:p.Cys459Tyr, NP_001123608.1:p.Cys459Tyr, NP_001123609.1:p.Cys459Tyr, XP_047288861.1:p.Cys459Tyr

                  9.

                  rs1481023965 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    15:74134142 (GRCh38)
                    15:74426483 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:74134141:A:C,NC_000015.10:74134141:A:G
                    Gene:
                    ISLR2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000008/2 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    C=0.001661/3 (Korea1K)
                    HGVS:
                    NC_000015.10:g.74134142A>C, NC_000015.10:g.74134142A>G, NC_000015.9:g.74426483A>C, NC_000015.9:g.74426483A>G, XM_011521840.4:c.1388A>C, XM_011521840.4:c.1388A>G, XM_011521840.3:c.1388A>C, XM_011521840.3:c.1388A>G, XM_011521840.2:c.1388A>C, XM_011521840.2:c.1388A>G, XM_011521840.1:c.1388A>C, XM_011521840.1:c.1388A>G, XR_931875.4:n.1574A>C, XR_931875.4:n.1574A>G, XR_931875.3:n.1726A>C, XR_931875.3:n.1726A>G, XR_931875.2:n.1828A>C, XR_931875.2:n.1828A>G, XR_931875.1:n.1506A>C, XR_931875.1:n.1506A>G, NM_020851.3:c.1388A>C, NM_020851.3:c.1388A>G, NM_020851.2:c.1388A>C, NM_020851.2:c.1388A>G, XM_017022446.3:c.1388A>C, XM_017022446.3:c.1388A>G, XM_017022446.2:c.1388A>C, XM_017022446.2:c.1388A>G, XM_017022446.1:c.1388A>C, XM_017022446.1:c.1388A>G, XM_024450005.2:c.1388A>C, XM_024450005.2:c.1388A>G, XM_024450005.1:c.1388A>C, XM_024450005.1:c.1388A>G, XM_011521841.2:c.1388A>C, XM_011521841.2:c.1388A>G, XM_011521841.1:c.1388A>C, XM_011521841.1:c.1388A>G, XM_024450003.2:c.1388A>C, XM_024450003.2:c.1388A>G, XM_024450003.1:c.1388A>C, XM_024450003.1:c.1388A>G, XM_024450004.2:c.1388A>C, XM_024450004.2:c.1388A>G, XM_024450004.1:c.1388A>C, XM_024450004.1:c.1388A>G, XM_024450006.2:c.1388A>C, XM_024450006.2:c.1388A>G, XM_024450006.1:c.1388A>C, XM_024450006.1:c.1388A>G, XM_024450007.2:c.1388A>C, XM_024450007.2:c.1388A>G, XM_024450007.1:c.1388A>C, XM_024450007.1:c.1388A>G, NM_001130138.2:c.1388A>C, NM_001130138.2:c.1388A>G, NM_001130138.1:c.1388A>C, NM_001130138.1:c.1388A>G, XM_024450008.2:c.1388A>C, XM_024450008.2:c.1388A>G, XM_024450008.1:c.1388A>C, XM_024450008.1:c.1388A>G, NM_001130136.1:c.1388A>C, NM_001130136.1:c.1388A>G, NM_001130137.1:c.1388A>C, NM_001130137.1:c.1388A>G, XM_047432905.1:c.1388A>C, XM_047432905.1:c.1388A>G, XP_011520142.1:p.Asp463Ala, XP_011520142.1:p.Asp463Gly, NP_065902.1:p.Asp463Ala, NP_065902.1:p.Asp463Gly, XP_016877935.1:p.Asp463Ala, XP_016877935.1:p.Asp463Gly, XP_024305773.1:p.Asp463Ala, XP_024305773.1:p.Asp463Gly, XP_011520143.1:p.Asp463Ala, XP_011520143.1:p.Asp463Gly, XP_024305771.1:p.Asp463Ala, XP_024305771.1:p.Asp463Gly, XP_024305772.1:p.Asp463Ala, XP_024305772.1:p.Asp463Gly, XP_024305774.1:p.Asp463Ala, XP_024305774.1:p.Asp463Gly, XP_024305775.1:p.Asp463Ala, XP_024305775.1:p.Asp463Gly, NP_001123610.1:p.Asp463Ala, NP_001123610.1:p.Asp463Gly, XP_024305776.1:p.Asp463Ala, XP_024305776.1:p.Asp463Gly, NP_001123608.1:p.Asp463Ala, NP_001123608.1:p.Asp463Gly, NP_001123609.1:p.Asp463Ala, NP_001123609.1:p.Asp463Gly, XP_047288861.1:p.Asp463Ala, XP_047288861.1:p.Asp463Gly

                    10.

                    rs1479462037 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      15:74133297 (GRCh38)
                      15:74425638 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:74133296:T:C
                      Gene:
                      ISLR2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.000008/2 (GnomAD_exomes)
                      C=0.001638/3 (Korea1K)
                      HGVS:
                      NC_000015.10:g.74133297T>C, NC_000015.9:g.74425638T>C, XM_011521840.4:c.543T>C, XM_011521840.3:c.543T>C, XM_011521840.2:c.543T>C, XM_011521840.1:c.543T>C, XR_931875.4:n.729T>C, XR_931875.3:n.881T>C, XR_931875.2:n.983T>C, XR_931875.1:n.661T>C, NM_020851.3:c.543T>C, NM_020851.2:c.543T>C, XM_017022446.3:c.543T>C, XM_017022446.2:c.543T>C, XM_017022446.1:c.543T>C, XM_024450005.2:c.543T>C, XM_024450005.1:c.543T>C, XM_011521841.2:c.543T>C, XM_011521841.1:c.543T>C, XM_024450003.2:c.543T>C, XM_024450003.1:c.543T>C, XM_024450004.2:c.543T>C, XM_024450004.1:c.543T>C, XM_024450006.2:c.543T>C, XM_024450006.1:c.543T>C, XM_024450007.2:c.543T>C, XM_024450007.1:c.543T>C, NM_001130138.2:c.543T>C, NM_001130138.1:c.543T>C, XM_024450008.2:c.543T>C, XM_024450008.1:c.543T>C, NM_001130136.1:c.543T>C, NM_001130137.1:c.543T>C, XM_047432905.1:c.543T>C

                      11.

                      rs1475190087 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:74133221 (GRCh38)
                        15:74425562 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:74133220:A:G
                        Gene:
                        ISLR2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000015.10:g.74133221A>G, NC_000015.9:g.74425562A>G, XM_011521840.4:c.467A>G, XM_011521840.3:c.467A>G, XM_011521840.2:c.467A>G, XM_011521840.1:c.467A>G, XR_931875.4:n.653A>G, XR_931875.3:n.805A>G, XR_931875.2:n.907A>G, XR_931875.1:n.585A>G, NM_020851.3:c.467A>G, NM_020851.2:c.467A>G, XM_017022446.3:c.467A>G, XM_017022446.2:c.467A>G, XM_017022446.1:c.467A>G, XM_024450005.2:c.467A>G, XM_024450005.1:c.467A>G, XM_011521841.2:c.467A>G, XM_011521841.1:c.467A>G, XM_024450003.2:c.467A>G, XM_024450003.1:c.467A>G, XM_024450004.2:c.467A>G, XM_024450004.1:c.467A>G, XM_024450006.2:c.467A>G, XM_024450006.1:c.467A>G, XM_024450007.2:c.467A>G, XM_024450007.1:c.467A>G, NM_001130138.2:c.467A>G, NM_001130138.1:c.467A>G, XM_024450008.2:c.467A>G, XM_024450008.1:c.467A>G, NM_001130136.1:c.467A>G, NM_001130137.1:c.467A>G, XM_047432905.1:c.467A>G, XP_011520142.1:p.Asn156Ser, NP_065902.1:p.Asn156Ser, XP_016877935.1:p.Asn156Ser, XP_024305773.1:p.Asn156Ser, XP_011520143.1:p.Asn156Ser, XP_024305771.1:p.Asn156Ser, XP_024305772.1:p.Asn156Ser, XP_024305774.1:p.Asn156Ser, XP_024305775.1:p.Asn156Ser, NP_001123610.1:p.Asn156Ser, XP_024305776.1:p.Asn156Ser, NP_001123608.1:p.Asn156Ser, NP_001123609.1:p.Asn156Ser, XP_047288861.1:p.Asn156Ser

                        12.

                        rs1475158505 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          15:74133900 (GRCh38)
                          15:74426241 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:74133899:T:C
                          Gene:
                          ISLR2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000031/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000015.10:g.74133900T>C, NC_000015.9:g.74426241T>C, XM_011521840.4:c.1146T>C, XM_011521840.3:c.1146T>C, XM_011521840.2:c.1146T>C, XM_011521840.1:c.1146T>C, XR_931875.4:n.1332T>C, XR_931875.3:n.1484T>C, XR_931875.2:n.1586T>C, XR_931875.1:n.1264T>C, NM_020851.3:c.1146T>C, NM_020851.2:c.1146T>C, XM_017022446.3:c.1146T>C, XM_017022446.2:c.1146T>C, XM_017022446.1:c.1146T>C, XM_024450005.2:c.1146T>C, XM_024450005.1:c.1146T>C, XM_011521841.2:c.1146T>C, XM_011521841.1:c.1146T>C, XM_024450003.2:c.1146T>C, XM_024450003.1:c.1146T>C, XM_024450004.2:c.1146T>C, XM_024450004.1:c.1146T>C, XM_024450006.2:c.1146T>C, XM_024450006.1:c.1146T>C, XM_024450007.2:c.1146T>C, XM_024450007.1:c.1146T>C, NM_001130138.2:c.1146T>C, NM_001130138.1:c.1146T>C, XM_024450008.2:c.1146T>C, XM_024450008.1:c.1146T>C, NM_001130136.1:c.1146T>C, NM_001130137.1:c.1146T>C, XM_047432905.1:c.1146T>C

                          13.

                          rs1470932883 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            15:74133233 (GRCh38)
                            15:74425574 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:74133232:G:A
                            Gene:
                            ISLR2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            HGVS:
                            NC_000015.10:g.74133233G>A, NC_000015.9:g.74425574G>A, XM_011521840.4:c.479G>A, XM_011521840.3:c.479G>A, XM_011521840.2:c.479G>A, XM_011521840.1:c.479G>A, XR_931875.4:n.665G>A, XR_931875.3:n.817G>A, XR_931875.2:n.919G>A, XR_931875.1:n.597G>A, NM_020851.3:c.479G>A, NM_020851.2:c.479G>A, XM_017022446.3:c.479G>A, XM_017022446.2:c.479G>A, XM_017022446.1:c.479G>A, XM_024450005.2:c.479G>A, XM_024450005.1:c.479G>A, XM_011521841.2:c.479G>A, XM_011521841.1:c.479G>A, XM_024450003.2:c.479G>A, XM_024450003.1:c.479G>A, XM_024450004.2:c.479G>A, XM_024450004.1:c.479G>A, XM_024450006.2:c.479G>A, XM_024450006.1:c.479G>A, XM_024450007.2:c.479G>A, XM_024450007.1:c.479G>A, NM_001130138.2:c.479G>A, NM_001130138.1:c.479G>A, XM_024450008.2:c.479G>A, XM_024450008.1:c.479G>A, NM_001130136.1:c.479G>A, NM_001130137.1:c.479G>A, XM_047432905.1:c.479G>A, XP_011520142.1:p.Arg160His, NP_065902.1:p.Arg160His, XP_016877935.1:p.Arg160His, XP_024305773.1:p.Arg160His, XP_011520143.1:p.Arg160His, XP_024305771.1:p.Arg160His, XP_024305772.1:p.Arg160His, XP_024305774.1:p.Arg160His, XP_024305775.1:p.Arg160His, NP_001123610.1:p.Arg160His, XP_024305776.1:p.Arg160His, NP_001123608.1:p.Arg160His, NP_001123609.1:p.Arg160His, XP_047288861.1:p.Arg160His

                            14.

                            rs1468954799 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:74132803 (GRCh38)
                              15:74425144 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:74132802:G:A
                              Gene:
                              ISLR2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              NC_000015.10:g.74132803G>A, NC_000015.9:g.74425144G>A, XM_011521840.4:c.49G>A, XM_011521840.3:c.49G>A, XM_011521840.2:c.49G>A, XM_011521840.1:c.49G>A, XR_931875.4:n.235G>A, XR_931875.3:n.387G>A, XR_931875.2:n.489G>A, XR_931875.1:n.167G>A, NM_020851.3:c.49G>A, NM_020851.2:c.49G>A, XM_017022446.3:c.49G>A, XM_017022446.2:c.49G>A, XM_017022446.1:c.49G>A, XM_024450005.2:c.49G>A, XM_024450005.1:c.49G>A, XM_011521841.2:c.49G>A, XM_011521841.1:c.49G>A, XM_024450003.2:c.49G>A, XM_024450003.1:c.49G>A, XM_024450004.2:c.49G>A, XM_024450004.1:c.49G>A, XM_024450006.2:c.49G>A, XM_024450006.1:c.49G>A, XM_024450007.2:c.49G>A, XM_024450007.1:c.49G>A, NM_001130138.2:c.49G>A, NM_001130138.1:c.49G>A, XM_024450008.2:c.49G>A, XM_024450008.1:c.49G>A, NM_001130136.1:c.49G>A, NM_001130137.1:c.49G>A, XM_047432905.1:c.49G>A, XP_011520142.1:p.Ala17Thr, NP_065902.1:p.Ala17Thr, XP_016877935.1:p.Ala17Thr, XP_024305773.1:p.Ala17Thr, XP_011520143.1:p.Ala17Thr, XP_024305771.1:p.Ala17Thr, XP_024305772.1:p.Ala17Thr, XP_024305774.1:p.Ala17Thr, XP_024305775.1:p.Ala17Thr, NP_001123610.1:p.Ala17Thr, XP_024305776.1:p.Ala17Thr, NP_001123608.1:p.Ala17Thr, NP_001123609.1:p.Ala17Thr, XP_047288861.1:p.Ala17Thr

                              15.

                              rs1463980238 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:74134095 (GRCh38)
                                15:74426436 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:74134094:C:T
                                Gene:
                                ISLR2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000015.10:g.74134095C>T, NC_000015.9:g.74426436C>T, XM_011521840.4:c.1341C>T, XM_011521840.3:c.1341C>T, XM_011521840.2:c.1341C>T, XM_011521840.1:c.1341C>T, XR_931875.4:n.1527C>T, XR_931875.3:n.1679C>T, XR_931875.2:n.1781C>T, XR_931875.1:n.1459C>T, NM_020851.3:c.1341C>T, NM_020851.2:c.1341C>T, XM_017022446.3:c.1341C>T, XM_017022446.2:c.1341C>T, XM_017022446.1:c.1341C>T, XM_024450005.2:c.1341C>T, XM_024450005.1:c.1341C>T, XM_011521841.2:c.1341C>T, XM_011521841.1:c.1341C>T, XM_024450003.2:c.1341C>T, XM_024450003.1:c.1341C>T, XM_024450004.2:c.1341C>T, XM_024450004.1:c.1341C>T, XM_024450006.2:c.1341C>T, XM_024450006.1:c.1341C>T, XM_024450007.2:c.1341C>T, XM_024450007.1:c.1341C>T, NM_001130138.2:c.1341C>T, NM_001130138.1:c.1341C>T, XM_024450008.2:c.1341C>T, XM_024450008.1:c.1341C>T, NM_001130136.1:c.1341C>T, NM_001130137.1:c.1341C>T, XM_047432905.1:c.1341C>T

                                16.

                                rs1462982613 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  15:74133804 (GRCh38)
                                  15:74426145 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:74133803:G:A
                                  Gene:
                                  ISLR2 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                  HGVS:
                                  NC_000015.10:g.74133804G>A, NC_000015.9:g.74426145G>A, XM_011521840.4:c.1050G>A, XM_011521840.3:c.1050G>A, XM_011521840.2:c.1050G>A, XM_011521840.1:c.1050G>A, XR_931875.4:n.1236G>A, XR_931875.3:n.1388G>A, XR_931875.2:n.1490G>A, XR_931875.1:n.1168G>A, NM_020851.3:c.1050G>A, NM_020851.2:c.1050G>A, XM_017022446.3:c.1050G>A, XM_017022446.2:c.1050G>A, XM_017022446.1:c.1050G>A, XM_024450005.2:c.1050G>A, XM_024450005.1:c.1050G>A, XM_011521841.2:c.1050G>A, XM_011521841.1:c.1050G>A, XM_024450003.2:c.1050G>A, XM_024450003.1:c.1050G>A, XM_024450004.2:c.1050G>A, XM_024450004.1:c.1050G>A, XM_024450006.2:c.1050G>A, XM_024450006.1:c.1050G>A, XM_024450007.2:c.1050G>A, XM_024450007.1:c.1050G>A, NM_001130138.2:c.1050G>A, NM_001130138.1:c.1050G>A, XM_024450008.2:c.1050G>A, XM_024450008.1:c.1050G>A, NM_001130136.1:c.1050G>A, NM_001130137.1:c.1050G>A, XM_047432905.1:c.1050G>A

                                  17.

                                  rs1457687372 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    15:74133311 (GRCh38)
                                    15:74425652 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:74133310:G:T
                                    Gene:
                                    ISLR2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000035/1 (TOMMO)
                                    HGVS:
                                    NC_000015.10:g.74133311G>T, NC_000015.9:g.74425652G>T, XM_011521840.4:c.557G>T, XM_011521840.3:c.557G>T, XM_011521840.2:c.557G>T, XM_011521840.1:c.557G>T, XR_931875.4:n.743G>T, XR_931875.3:n.895G>T, XR_931875.2:n.997G>T, XR_931875.1:n.675G>T, NM_020851.3:c.557G>T, NM_020851.2:c.557G>T, XM_017022446.3:c.557G>T, XM_017022446.2:c.557G>T, XM_017022446.1:c.557G>T, XM_024450005.2:c.557G>T, XM_024450005.1:c.557G>T, XM_011521841.2:c.557G>T, XM_011521841.1:c.557G>T, XM_024450003.2:c.557G>T, XM_024450003.1:c.557G>T, XM_024450004.2:c.557G>T, XM_024450004.1:c.557G>T, XM_024450006.2:c.557G>T, XM_024450006.1:c.557G>T, XM_024450007.2:c.557G>T, XM_024450007.1:c.557G>T, NM_001130138.2:c.557G>T, NM_001130138.1:c.557G>T, XM_024450008.2:c.557G>T, XM_024450008.1:c.557G>T, NM_001130136.1:c.557G>T, NM_001130137.1:c.557G>T, XM_047432905.1:c.557G>T, XP_011520142.1:p.Gly186Val, NP_065902.1:p.Gly186Val, XP_016877935.1:p.Gly186Val, XP_024305773.1:p.Gly186Val, XP_011520143.1:p.Gly186Val, XP_024305771.1:p.Gly186Val, XP_024305772.1:p.Gly186Val, XP_024305774.1:p.Gly186Val, XP_024305775.1:p.Gly186Val, NP_001123610.1:p.Gly186Val, XP_024305776.1:p.Gly186Val, NP_001123608.1:p.Gly186Val, NP_001123609.1:p.Gly186Val, XP_047288861.1:p.Gly186Val

                                    18.

                                    rs1457621920 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      15:74133241 (GRCh38)
                                      15:74425582 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:74133240:G:A
                                      Gene:
                                      ISLR2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      HGVS:
                                      NC_000015.10:g.74133241G>A, NC_000015.9:g.74425582G>A, XM_011521840.4:c.487G>A, XM_011521840.3:c.487G>A, XM_011521840.2:c.487G>A, XM_011521840.1:c.487G>A, XR_931875.4:n.673G>A, XR_931875.3:n.825G>A, XR_931875.2:n.927G>A, XR_931875.1:n.605G>A, NM_020851.3:c.487G>A, NM_020851.2:c.487G>A, XM_017022446.3:c.487G>A, XM_017022446.2:c.487G>A, XM_017022446.1:c.487G>A, XM_024450005.2:c.487G>A, XM_024450005.1:c.487G>A, XM_011521841.2:c.487G>A, XM_011521841.1:c.487G>A, XM_024450003.2:c.487G>A, XM_024450003.1:c.487G>A, XM_024450004.2:c.487G>A, XM_024450004.1:c.487G>A, XM_024450006.2:c.487G>A, XM_024450006.1:c.487G>A, XM_024450007.2:c.487G>A, XM_024450007.1:c.487G>A, NM_001130138.2:c.487G>A, NM_001130138.1:c.487G>A, XM_024450008.2:c.487G>A, XM_024450008.1:c.487G>A, NM_001130136.1:c.487G>A, NM_001130137.1:c.487G>A, XM_047432905.1:c.487G>A, XP_011520142.1:p.Ala163Thr, NP_065902.1:p.Ala163Thr, XP_016877935.1:p.Ala163Thr, XP_024305773.1:p.Ala163Thr, XP_011520143.1:p.Ala163Thr, XP_024305771.1:p.Ala163Thr, XP_024305772.1:p.Ala163Thr, XP_024305774.1:p.Ala163Thr, XP_024305775.1:p.Ala163Thr, NP_001123610.1:p.Ala163Thr, XP_024305776.1:p.Ala163Thr, NP_001123608.1:p.Ala163Thr, NP_001123609.1:p.Ala163Thr, XP_047288861.1:p.Ala163Thr

                                      19.

                                      rs1457306876 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        15:74133883 (GRCh38)
                                        15:74426224 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:74133882:C:T
                                        Gene:
                                        ISLR2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000015.10:g.74133883C>T, NC_000015.9:g.74426224C>T, XM_011521840.4:c.1129C>T, XM_011521840.3:c.1129C>T, XM_011521840.2:c.1129C>T, XM_011521840.1:c.1129C>T, XR_931875.4:n.1315C>T, XR_931875.3:n.1467C>T, XR_931875.2:n.1569C>T, XR_931875.1:n.1247C>T, NM_020851.3:c.1129C>T, NM_020851.2:c.1129C>T, XM_017022446.3:c.1129C>T, XM_017022446.2:c.1129C>T, XM_017022446.1:c.1129C>T, XM_024450005.2:c.1129C>T, XM_024450005.1:c.1129C>T, XM_011521841.2:c.1129C>T, XM_011521841.1:c.1129C>T, XM_024450003.2:c.1129C>T, XM_024450003.1:c.1129C>T, XM_024450004.2:c.1129C>T, XM_024450004.1:c.1129C>T, XM_024450006.2:c.1129C>T, XM_024450006.1:c.1129C>T, XM_024450007.2:c.1129C>T, XM_024450007.1:c.1129C>T, NM_001130138.2:c.1129C>T, NM_001130138.1:c.1129C>T, XM_024450008.2:c.1129C>T, XM_024450008.1:c.1129C>T, NM_001130136.1:c.1129C>T, NM_001130137.1:c.1129C>T, XM_047432905.1:c.1129C>T, XP_011520142.1:p.Pro377Ser, NP_065902.1:p.Pro377Ser, XP_016877935.1:p.Pro377Ser, XP_024305773.1:p.Pro377Ser, XP_011520143.1:p.Pro377Ser, XP_024305771.1:p.Pro377Ser, XP_024305772.1:p.Pro377Ser, XP_024305774.1:p.Pro377Ser, XP_024305775.1:p.Pro377Ser, NP_001123610.1:p.Pro377Ser, XP_024305776.1:p.Pro377Ser, NP_001123608.1:p.Pro377Ser, NP_001123609.1:p.Pro377Ser, XP_047288861.1:p.Pro377Ser

                                        20.

                                        rs1457200499 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          15:74134083 (GRCh38)
                                          15:74426424 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:74134082:G:A
                                          Gene:
                                          ISLR2 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.74134083G>A, NC_000015.9:g.74426424G>A, XM_011521840.4:c.1329G>A, XM_011521840.3:c.1329G>A, XM_011521840.2:c.1329G>A, XM_011521840.1:c.1329G>A, XR_931875.4:n.1515G>A, XR_931875.3:n.1667G>A, XR_931875.2:n.1769G>A, XR_931875.1:n.1447G>A, NM_020851.3:c.1329G>A, NM_020851.2:c.1329G>A, XM_017022446.3:c.1329G>A, XM_017022446.2:c.1329G>A, XM_017022446.1:c.1329G>A, XM_024450005.2:c.1329G>A, XM_024450005.1:c.1329G>A, XM_011521841.2:c.1329G>A, XM_011521841.1:c.1329G>A, XM_024450003.2:c.1329G>A, XM_024450003.1:c.1329G>A, XM_024450004.2:c.1329G>A, XM_024450004.1:c.1329G>A, XM_024450006.2:c.1329G>A, XM_024450006.1:c.1329G>A, XM_024450007.2:c.1329G>A, XM_024450007.1:c.1329G>A, NM_001130138.2:c.1329G>A, NM_001130138.1:c.1329G>A, XM_024450008.2:c.1329G>A, XM_024450008.1:c.1329G>A, NM_001130136.1:c.1329G>A, NM_001130137.1:c.1329G>A, XM_047432905.1:c.1329G>A

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