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Items: 1 to 20 of 1314

1.

rs1490758228 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    T>- [Show Flanks]
    Chromosome:
    12:18294005 (GRCh38)
    12:18446939 (GRCh37)
    Canonical SPDI:
    NC_000012.12:18294004:TTTTT:TTTT
    Gene:
    PIK3C2G (Varview), LOC124902890 (Varview)
    Functional Consequence:
    intron_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TTTT=0./0 (ALFA)
    HGVS:
    NC_000012.12:g.18294009del, NC_000012.11:g.18446943del, NG_050635.1:g.56045del, NM_004570.6:c.1028del, NM_004570.5:c.1028del, NM_004570.4:c.1028del, NM_001288772.2:c.1028del, NM_001288772.1:c.1028del, NM_001288774.2:c.362del, NM_001288774.1:c.362del, XM_017019478.3:c.1028del, XM_017019478.2:c.1028del, XM_017019478.1:c.1028del, XM_017019473.3:c.1028del, XM_017019473.2:c.1028del, XM_017019473.1:c.1028del, XM_011520701.3:c.1028del, XM_011520701.2:c.1028del, XM_011520701.1:c.1028del, XM_011520697.3:c.1028del, XM_011520697.2:c.1028del, XM_011520697.1:c.1028del, XR_931307.3:n.1366del, XR_931307.2:n.1263del, XR_931307.1:n.1207del, XM_017019475.2:c.1028del, XM_017019475.1:c.1028del, XM_017019471.2:c.1028del, XM_017019471.1:c.1028del, XM_047429007.1:c.1028del, XM_047429006.1:c.1028del, XM_047429008.1:c.1028del, XM_047429005.1:c.1028del, XM_047429010.1:c.362del, XM_047429009.1:c.1028del, NP_004561.3:p.Leu343fs, NP_001275701.1:p.Leu343fs, NP_001275703.1:p.Leu121fs, XP_016874967.1:p.Leu343fs, XP_016874962.1:p.Leu343fs, XP_011519003.1:p.Leu343fs, XP_011518999.1:p.Leu343fs, XP_016874964.1:p.Leu343fs, XP_016874960.1:p.Leu343fs, XP_047284963.1:p.Leu343fs, XP_047284962.1:p.Leu343fs, XP_047284964.1:p.Leu343fs, XP_047284961.1:p.Leu343fs, XP_047284966.1:p.Leu121fs, XP_047284965.1:p.Leu343fs

    2.

    rs1489696913 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      12:18546328 (GRCh38)
      12:18699262 (GRCh37)
      Canonical SPDI:
      NC_000012.12:18546327:G:A,NC_000012.12:18546327:G:T
      Gene:
      PIK3C2G (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      HGVS:
      NC_000012.12:g.18546328G>A, NC_000012.12:g.18546328G>T, NC_000012.11:g.18699262G>A, NC_000012.11:g.18699262G>T, NG_050635.1:g.308364G>A, NG_050635.1:g.308364G>T, NM_004570.6:c.3363G>A, NM_004570.6:c.3363G>T, NM_004570.5:c.3363G>A, NM_004570.5:c.3363G>T, NM_004570.4:c.3363G>A, NM_004570.4:c.3363G>T, NM_001288772.2:c.3486G>A, NM_001288772.2:c.3486G>T, NM_001288772.1:c.3486G>A, NM_001288772.1:c.3486G>T, NM_001288774.2:c.2820G>A, NM_001288774.2:c.2820G>T, NM_001288774.1:c.2820G>A, NM_001288774.1:c.2820G>T, XM_017019473.3:c.3486G>A, XM_017019473.3:c.3486G>T, XM_017019473.2:c.3486G>A, XM_017019473.2:c.3486G>T, XM_017019473.1:c.3486G>A, XM_017019473.1:c.3486G>T, XM_011520697.3:c.3486G>A, XM_011520697.3:c.3486G>T, XM_011520697.2:c.3486G>A, XM_011520697.2:c.3486G>T, XM_011520697.1:c.3486G>A, XM_011520697.1:c.3486G>T, XM_017019475.2:c.3486G>A, XM_017019475.2:c.3486G>T, XM_017019475.1:c.3486G>A, XM_017019475.1:c.3486G>T, XM_017019471.2:c.3486G>A, XM_017019471.2:c.3486G>T, XM_017019471.1:c.3486G>A, XM_017019471.1:c.3486G>T, XM_017019479.2:c.1461G>A, XM_017019479.2:c.1461G>T, XM_017019479.1:c.1461G>A, XM_017019479.1:c.1461G>T, XM_047429007.1:c.3486G>A, XM_047429007.1:c.3486G>T, XM_047429006.1:c.3486G>A, XM_047429006.1:c.3486G>T, XM_047429008.1:c.3363G>A, XM_047429008.1:c.3363G>T, XM_047429005.1:c.3486G>A, XM_047429005.1:c.3486G>T, XM_047429010.1:c.2820G>A, XM_047429010.1:c.2820G>T, XM_047429009.1:c.3363G>A, XM_047429009.1:c.3363G>T

      3.

      rs1487747204 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        12:18503375 (GRCh38)
        12:18656309 (GRCh37)
        Canonical SPDI:
        NC_000012.12:18503374:G:
        Gene:
        PIK3C2G (Varview)
        Functional Consequence:
        frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        -=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.18503375del, NC_000012.11:g.18656309del, NG_050635.1:g.265411del, NM_004570.6:c.2988del, NM_004570.5:c.2988del, NM_004570.4:c.2988del, NM_001288772.2:c.3111del, NM_001288772.1:c.3111del, NM_001288774.2:c.2445del, NM_001288774.1:c.2445del, XM_017019473.3:c.3111del, XM_017019473.2:c.3111del, XM_017019473.1:c.3111del, XM_011520697.3:c.3111del, XM_011520697.2:c.3111del, XM_011520697.1:c.3111del, XM_017019475.2:c.3111del, XM_017019475.1:c.3111del, XM_017019471.2:c.3111del, XM_017019471.1:c.3111del, XM_017019479.2:c.1086del, XM_017019479.1:c.1086del, XM_047429007.1:c.3111del, XM_047429006.1:c.3111del, XM_047429008.1:c.2988del, XM_047429005.1:c.3111del, XM_047429010.1:c.2445del, XM_047429009.1:c.2988del, NP_004561.3:p.Lys996fs, NP_001275701.1:p.Lys1037fs, NP_001275703.1:p.Lys815fs, XP_016874962.1:p.Lys1037fs, XP_011518999.1:p.Lys1037fs, XP_016874964.1:p.Lys1037fs, XP_016874960.1:p.Lys1037fs, XP_016874968.1:p.Lys362fs, XP_047284963.1:p.Lys1037fs, XP_047284962.1:p.Lys1037fs, XP_047284964.1:p.Lys996fs, XP_047284961.1:p.Lys1037fs, XP_047284966.1:p.Lys815fs, XP_047284965.1:p.Lys996fs

        4.

        rs1487101274 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:18424030 (GRCh38)
          12:18576964 (GRCh37)
          Canonical SPDI:
          NC_000012.12:18424029:G:A
          Gene:
          PIK3C2G (Varview), LOC124902891 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000013/3 (GnomAD_exomes)
          A=0.000015/4 (TOPMED)
          A=0.000021/3 (GnomAD)
          HGVS:
          NC_000012.12:g.18424030G>A, NC_000012.11:g.18576964G>A, NG_050635.1:g.186066G>A, NM_004570.6:c.2372G>A, NM_004570.5:c.2372G>A, NM_004570.4:c.2372G>A, NM_001288772.2:c.2495G>A, NM_001288772.1:c.2495G>A, NM_001288774.2:c.1829G>A, NM_001288774.1:c.1829G>A, XM_017019478.3:c.2495G>A, XM_017019478.2:c.2495G>A, XM_017019478.1:c.2495G>A, XM_017019473.3:c.2495G>A, XM_017019473.2:c.2495G>A, XM_017019473.1:c.2495G>A, XM_011520701.3:c.2495G>A, XM_011520701.2:c.2495G>A, XM_011520701.1:c.2495G>A, XM_011520697.3:c.2495G>A, XM_011520697.2:c.2495G>A, XM_011520697.1:c.2495G>A, XR_931307.3:n.2833G>A, XR_931307.2:n.2730G>A, XR_931307.1:n.2674G>A, XM_017019475.2:c.2495G>A, XM_017019475.1:c.2495G>A, XM_017019471.2:c.2495G>A, XM_017019471.1:c.2495G>A, XM_017019479.2:c.470G>A, XM_017019479.1:c.470G>A, XM_047429007.1:c.2495G>A, XM_047429006.1:c.2495G>A, XM_047429008.1:c.2372G>A, XM_047429005.1:c.2495G>A, XM_047429010.1:c.1829G>A, XM_047429009.1:c.2372G>A, NP_004561.3:p.Arg791His, NP_001275701.1:p.Arg832His, NP_001275703.1:p.Arg610His, XP_016874967.1:p.Arg832His, XP_016874962.1:p.Arg832His, XP_011519003.1:p.Arg832His, XP_011518999.1:p.Arg832His, XP_016874964.1:p.Arg832His, XP_016874960.1:p.Arg832His, XP_016874968.1:p.Arg157His, XP_047284963.1:p.Arg832His, XP_047284962.1:p.Arg832His, XP_047284964.1:p.Arg791His, XP_047284961.1:p.Arg832His, XP_047284966.1:p.Arg610His, XP_047284965.1:p.Arg791His

          5.

          rs1486918492 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            12:18293997 (GRCh38)
            12:18446931 (GRCh37)
            Canonical SPDI:
            NC_000012.12:18293996:C:G
            Gene:
            PIK3C2G (Varview), LOC124902890 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.18293997C>G, NC_000012.11:g.18446931C>G, NG_050635.1:g.56033C>G, NM_004570.6:c.1016C>G, NM_004570.5:c.1016C>G, NM_004570.4:c.1016C>G, NM_001288772.2:c.1016C>G, NM_001288772.1:c.1016C>G, NM_001288774.2:c.350C>G, NM_001288774.1:c.350C>G, XM_017019478.3:c.1016C>G, XM_017019478.2:c.1016C>G, XM_017019478.1:c.1016C>G, XM_017019473.3:c.1016C>G, XM_017019473.2:c.1016C>G, XM_017019473.1:c.1016C>G, XM_011520701.3:c.1016C>G, XM_011520701.2:c.1016C>G, XM_011520701.1:c.1016C>G, XM_011520697.3:c.1016C>G, XM_011520697.2:c.1016C>G, XM_011520697.1:c.1016C>G, XR_931307.3:n.1354C>G, XR_931307.2:n.1251C>G, XR_931307.1:n.1195C>G, XM_017019475.2:c.1016C>G, XM_017019475.1:c.1016C>G, XM_017019471.2:c.1016C>G, XM_017019471.1:c.1016C>G, XM_047429007.1:c.1016C>G, XM_047429006.1:c.1016C>G, XM_047429008.1:c.1016C>G, XM_047429005.1:c.1016C>G, XM_047429010.1:c.350C>G, XM_047429009.1:c.1016C>G, NP_004561.3:p.Ser339Cys, NP_001275701.1:p.Ser339Cys, NP_001275703.1:p.Ser117Cys, XP_016874967.1:p.Ser339Cys, XP_016874962.1:p.Ser339Cys, XP_011519003.1:p.Ser339Cys, XP_011518999.1:p.Ser339Cys, XP_016874964.1:p.Ser339Cys, XP_016874960.1:p.Ser339Cys, XP_047284963.1:p.Ser339Cys, XP_047284962.1:p.Ser339Cys, XP_047284964.1:p.Ser339Cys, XP_047284961.1:p.Ser339Cys, XP_047284966.1:p.Ser117Cys, XP_047284965.1:p.Ser339Cys

            6.

            rs1486841610 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              12:18290988 (GRCh38)
              12:18443922 (GRCh37)
              Canonical SPDI:
              NC_000012.12:18290987:C:G
              Gene:
              PIK3C2G (Varview), LOC124902890 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_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)
              HGVS:
              NC_000012.12:g.18290988C>G, NC_000012.11:g.18443922C>G, NG_050635.1:g.53024C>G, NM_004570.6:c.895C>G, NM_004570.5:c.895C>G, NM_004570.4:c.895C>G, NM_001288772.2:c.895C>G, NM_001288772.1:c.895C>G, NM_001288774.2:c.229C>G, NM_001288774.1:c.229C>G, XM_017019478.3:c.895C>G, XM_017019478.2:c.895C>G, XM_017019478.1:c.895C>G, XM_017019473.3:c.895C>G, XM_017019473.2:c.895C>G, XM_017019473.1:c.895C>G, XM_011520701.3:c.895C>G, XM_011520701.2:c.895C>G, XM_011520701.1:c.895C>G, XM_011520697.3:c.895C>G, XM_011520697.2:c.895C>G, XM_011520697.1:c.895C>G, XR_931307.3:n.1233C>G, XR_931307.2:n.1130C>G, XR_931307.1:n.1074C>G, XM_017019475.2:c.895C>G, XM_017019475.1:c.895C>G, XM_017019471.2:c.895C>G, XM_017019471.1:c.895C>G, XM_047429007.1:c.895C>G, XM_047429006.1:c.895C>G, XM_047429008.1:c.895C>G, XM_047429005.1:c.895C>G, XM_047429010.1:c.229C>G, XM_047429009.1:c.895C>G, NP_004561.3:p.Gln299Glu, NP_001275701.1:p.Gln299Glu, NP_001275703.1:p.Gln77Glu, XP_016874967.1:p.Gln299Glu, XP_016874962.1:p.Gln299Glu, XP_011519003.1:p.Gln299Glu, XP_011518999.1:p.Gln299Glu, XP_016874964.1:p.Gln299Glu, XP_016874960.1:p.Gln299Glu, XP_047284963.1:p.Gln299Glu, XP_047284962.1:p.Gln299Glu, XP_047284964.1:p.Gln299Glu, XP_047284961.1:p.Gln299Glu, XP_047284966.1:p.Gln77Glu, XP_047284965.1:p.Gln299Glu

              7.

              rs1486424947 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:18563435 (GRCh38)
                12:18716369 (GRCh37)
                Canonical SPDI:
                NC_000012.12:18563434:T:C
                Gene:
                PIK3C2G (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.18563435T>C, NC_000012.11:g.18716369T>C, NG_050635.1:g.325471T>C, NM_004570.6:c.3716T>C, NM_004570.5:c.3716T>C, NM_004570.4:c.3716T>C, NM_001288772.2:c.3839T>C, NM_001288772.1:c.3839T>C, NM_001288774.2:c.3173T>C, NM_001288774.1:c.3173T>C, XM_017019473.3:c.3839T>C, XM_017019473.2:c.3839T>C, XM_017019473.1:c.3839T>C, XM_011520697.3:c.3839T>C, XM_011520697.2:c.3839T>C, XM_011520697.1:c.3839T>C, XM_017019475.2:c.3839T>C, XM_017019475.1:c.3839T>C, XM_017019471.2:c.3839T>C, XM_017019471.1:c.3839T>C, XM_017019479.2:c.1814T>C, XM_017019479.1:c.1814T>C, XM_047429007.1:c.3839T>C, XM_047429006.1:c.3839T>C, XM_047429008.1:c.3716T>C, XM_047429005.1:c.3839T>C, XM_047429010.1:c.3173T>C, XM_047429009.1:c.3716T>C, NP_004561.3:p.Phe1239Ser, NP_001275701.1:p.Phe1280Ser, NP_001275703.1:p.Phe1058Ser, XP_016874962.1:p.Phe1280Ser, XP_011518999.1:p.Phe1280Ser, XP_016874964.1:p.Phe1280Ser, XP_016874960.1:p.Phe1280Ser, XP_016874968.1:p.Phe605Ser, XP_047284963.1:p.Phe1280Ser, XP_047284962.1:p.Phe1280Ser, XP_047284964.1:p.Phe1239Ser, XP_047284961.1:p.Phe1280Ser, XP_047284966.1:p.Phe1058Ser, XP_047284965.1:p.Phe1239Ser

                8.

                rs1484537299 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  12:18362786 (GRCh38)
                  12:18515720 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:18362785:T:G
                  Gene:
                  PIK3C2G (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                  HGVS:
                  NC_000012.12:g.18362786T>G, NC_000012.11:g.18515720T>G, NG_050635.1:g.124822T>G, NM_001288772.2:c.1648T>G, NM_001288772.1:c.1648T>G, NM_001288774.2:c.982T>G, NM_001288774.1:c.982T>G, XM_017019478.3:c.1648T>G, XM_017019478.2:c.1648T>G, XM_017019478.1:c.1648T>G, XM_017019473.3:c.1648T>G, XM_017019473.2:c.1648T>G, XM_017019473.1:c.1648T>G, XM_011520701.3:c.1648T>G, XM_011520701.2:c.1648T>G, XM_011520701.1:c.1648T>G, XM_011520697.3:c.1648T>G, XM_011520697.2:c.1648T>G, XM_011520697.1:c.1648T>G, XR_931307.3:n.1986T>G, XR_931307.2:n.1883T>G, XR_931307.1:n.1827T>G, XM_017019475.2:c.1648T>G, XM_017019475.1:c.1648T>G, XM_017019471.2:c.1648T>G, XM_017019471.1:c.1648T>G, XM_047429007.1:c.1648T>G, XM_047429006.1:c.1648T>G, XM_047429005.1:c.1648T>G, XM_047429010.1:c.982T>G, NP_001275701.1:p.Cys550Gly, NP_001275703.1:p.Cys328Gly, XP_016874967.1:p.Cys550Gly, XP_016874962.1:p.Cys550Gly, XP_011519003.1:p.Cys550Gly, XP_011518999.1:p.Cys550Gly, XP_016874964.1:p.Cys550Gly, XP_016874960.1:p.Cys550Gly, XP_047284963.1:p.Cys550Gly, XP_047284962.1:p.Cys550Gly, XP_047284961.1:p.Cys550Gly, XP_047284966.1:p.Cys328Gly

                  9.

                  rs1484232461 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    12:18325095 (GRCh38)
                    12:18478029 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:18325094:C:A
                    Gene:
                    PIK3C2G (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.18325095C>A, NC_000012.11:g.18478029C>A, NG_050635.1:g.87131C>A, NM_004570.6:c.1269C>A, NM_004570.5:c.1269C>A, NM_004570.4:c.1269C>A, NM_001288772.2:c.1269C>A, NM_001288772.1:c.1269C>A, NM_001288774.2:c.603C>A, NM_001288774.1:c.603C>A, XM_017019478.3:c.1269C>A, XM_017019478.2:c.1269C>A, XM_017019478.1:c.1269C>A, XM_017019473.3:c.1269C>A, XM_017019473.2:c.1269C>A, XM_017019473.1:c.1269C>A, XM_011520701.3:c.1269C>A, XM_011520701.2:c.1269C>A, XM_011520701.1:c.1269C>A, XM_011520697.3:c.1269C>A, XM_011520697.2:c.1269C>A, XM_011520697.1:c.1269C>A, XR_931307.3:n.1607C>A, XR_931307.2:n.1504C>A, XR_931307.1:n.1448C>A, XM_017019475.2:c.1269C>A, XM_017019475.1:c.1269C>A, XM_017019471.2:c.1269C>A, XM_017019471.1:c.1269C>A, XM_047429007.1:c.1269C>A, XM_047429006.1:c.1269C>A, XM_047429008.1:c.1269C>A, XM_047429005.1:c.1269C>A, XM_047429010.1:c.603C>A, XM_047429009.1:c.1269C>A

                    10.

                    rs1482437303 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:18505396 (GRCh38)
                      12:18658330 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:18505395:C:T
                      Gene:
                      PIK3C2G (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1481823992 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        12:18381844 (GRCh38)
                        12:18534778 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:18381843:G:A
                        Gene:
                        PIK3C2G (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000012.12:g.18381844G>A, NC_000012.11:g.18534778G>A, NG_050635.1:g.143880G>A, NM_004570.6:c.1836G>A, NM_004570.5:c.1836G>A, NM_004570.4:c.1836G>A, NM_001288772.2:c.1959G>A, NM_001288772.1:c.1959G>A, NM_001288774.2:c.1293G>A, NM_001288774.1:c.1293G>A, XM_017019478.3:c.1959G>A, XM_017019478.2:c.1959G>A, XM_017019478.1:c.1959G>A, XM_017019473.3:c.1959G>A, XM_017019473.2:c.1959G>A, XM_017019473.1:c.1959G>A, XM_011520701.3:c.1959G>A, XM_011520701.2:c.1959G>A, XM_011520701.1:c.1959G>A, XM_011520697.3:c.1959G>A, XM_011520697.2:c.1959G>A, XM_011520697.1:c.1959G>A, XR_931307.3:n.2297G>A, XR_931307.2:n.2194G>A, XR_931307.1:n.2138G>A, XM_017019475.2:c.1959G>A, XM_017019475.1:c.1959G>A, XM_017019471.2:c.1959G>A, XM_017019471.1:c.1959G>A, XM_047429007.1:c.1959G>A, XM_047429006.1:c.1959G>A, XM_047429008.1:c.1836G>A, XM_047429005.1:c.1959G>A, XM_047429010.1:c.1293G>A, XM_047429009.1:c.1836G>A

                        12.

                        rs1481099453 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          12:18488506 (GRCh38)
                          12:18641440 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:18488505:A:G
                          Gene:
                          PIK3C2G (Varview)
                          Functional Consequence:
                          coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000005/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1479342006 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:18538227 (GRCh38)
                            12:18691161 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:18538226:A:G
                            Gene:
                            PIK3C2G (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.18538227A>G, NC_000012.11:g.18691161A>G, NG_050635.1:g.300263A>G, NM_004570.6:c.3272A>G, NM_004570.5:c.3272A>G, NM_004570.4:c.3272A>G, NM_001288772.2:c.3395A>G, NM_001288772.1:c.3395A>G, NM_001288774.2:c.2729A>G, NM_001288774.1:c.2729A>G, XM_017019473.3:c.3395A>G, XM_017019473.2:c.3395A>G, XM_017019473.1:c.3395A>G, XM_011520697.3:c.3395A>G, XM_011520697.2:c.3395A>G, XM_011520697.1:c.3395A>G, XM_017019475.2:c.3395A>G, XM_017019475.1:c.3395A>G, XM_017019471.2:c.3395A>G, XM_017019471.1:c.3395A>G, XM_017019479.2:c.1370A>G, XM_017019479.1:c.1370A>G, XM_047429007.1:c.3395A>G, XM_047429006.1:c.3395A>G, XM_047429008.1:c.3272A>G, XM_047429005.1:c.3395A>G, XM_047429010.1:c.2729A>G, XM_047429009.1:c.3272A>G, NP_004561.3:p.His1091Arg, NP_001275701.1:p.His1132Arg, NP_001275703.1:p.His910Arg, XP_016874962.1:p.His1132Arg, XP_011518999.1:p.His1132Arg, XP_016874964.1:p.His1132Arg, XP_016874960.1:p.His1132Arg, XP_016874968.1:p.His457Arg, XP_047284963.1:p.His1132Arg, XP_047284962.1:p.His1132Arg, XP_047284964.1:p.His1091Arg, XP_047284961.1:p.His1132Arg, XP_047284966.1:p.His910Arg, XP_047284965.1:p.His1091Arg

                            14.

                            rs1478308396 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              12:18505408 (GRCh38)
                              12:18658342 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:18505407:T:C
                              Gene:
                              PIK3C2G (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1477450964 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                12:18647883 (GRCh38)
                                12:18800817 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:18647882:A:G
                                Gene:
                                PIK3C2G (Varview), PLCZ1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1477326088 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  12:18640503 (GRCh38)
                                  12:18793437 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:18640502:G:C,NC_000012.12:18640502:G:T
                                  Gene:
                                  PIK3C2G (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000198/3 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  C=0.000014/2 (GnomAD)
                                  C=0.000446/2 (Estonian)
                                  HGVS:
                                  NC_000012.12:g.18640503G>C, NC_000012.12:g.18640503G>T, NC_000012.11:g.18793437G>C, NC_000012.11:g.18793437G>T, NG_050635.1:g.402539G>C, NG_050635.1:g.402539G>T, NM_004570.6:c.4134G>C, NM_004570.6:c.4134G>T, NM_004570.5:c.4134G>C, NM_004570.5:c.4134G>T, NM_004570.4:c.4134G>C, NM_004570.4:c.4134G>T, NM_001288772.2:c.4257G>C, NM_001288772.2:c.4257G>T, NM_001288772.1:c.4257G>C, NM_001288772.1:c.4257G>T, NM_001288774.2:c.3591G>C, NM_001288774.2:c.3591G>T, NM_001288774.1:c.3591G>C, NM_001288774.1:c.3591G>T, XM_017019473.3:c.4257G>C, XM_017019473.3:c.4257G>T, XM_017019473.2:c.4257G>C, XM_017019473.2:c.4257G>T, XM_017019473.1:c.4257G>C, XM_017019473.1:c.4257G>T, XM_011520697.3:c.4257G>C, XM_011520697.3:c.4257G>T, XM_011520697.2:c.4257G>C, XM_011520697.2:c.4257G>T, XM_011520697.1:c.4257G>C, XM_011520697.1:c.4257G>T, XM_017019475.2:c.4257G>C, XM_017019475.2:c.4257G>T, XM_017019475.1:c.4257G>C, XM_017019475.1:c.4257G>T, XM_017019471.2:c.4257G>C, XM_017019471.2:c.4257G>T, XM_017019471.1:c.4257G>C, XM_017019471.1:c.4257G>T, XM_017019479.2:c.2232G>C, XM_017019479.2:c.2232G>T, XM_017019479.1:c.2232G>C, XM_017019479.1:c.2232G>T, XM_047429007.1:c.4257G>C, XM_047429007.1:c.4257G>T, XM_047429006.1:c.4257G>C, XM_047429006.1:c.4257G>T, XM_047429008.1:c.4134G>C, XM_047429008.1:c.4134G>T, XM_047429005.1:c.4257G>C, XM_047429005.1:c.4257G>T, XM_047429010.1:c.3591G>C, XM_047429010.1:c.3591G>T, XM_047429009.1:c.4134G>C, XM_047429009.1:c.4134G>T, NP_004561.3:p.Arg1378Ser, NP_004561.3:p.Arg1378Ser, NP_001275701.1:p.Arg1419Ser, NP_001275701.1:p.Arg1419Ser, NP_001275703.1:p.Arg1197Ser, NP_001275703.1:p.Arg1197Ser, XP_016874962.1:p.Arg1419Ser, XP_016874962.1:p.Arg1419Ser, XP_011518999.1:p.Arg1419Ser, XP_011518999.1:p.Arg1419Ser, XP_016874964.1:p.Arg1419Ser, XP_016874964.1:p.Arg1419Ser, XP_016874960.1:p.Arg1419Ser, XP_016874960.1:p.Arg1419Ser, XP_016874968.1:p.Arg744Ser, XP_016874968.1:p.Arg744Ser, XP_047284963.1:p.Arg1419Ser, XP_047284963.1:p.Arg1419Ser, XP_047284962.1:p.Arg1419Ser, XP_047284962.1:p.Arg1419Ser, XP_047284964.1:p.Arg1378Ser, XP_047284964.1:p.Arg1378Ser, XP_047284961.1:p.Arg1419Ser, XP_047284961.1:p.Arg1419Ser, XP_047284966.1:p.Arg1197Ser, XP_047284966.1:p.Arg1197Ser, XP_047284965.1:p.Arg1378Ser, XP_047284965.1:p.Arg1378Ser

                                  17.

                                  rs1476973395 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:18314020 (GRCh38)
                                    12:18466954 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:18314019:C:T
                                    Gene:
                                    PIK3C2G (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                    HGVS:
                                    NC_000012.12:g.18314020C>T, NC_000012.11:g.18466954C>T, NG_050635.1:g.76056C>T, NM_004570.6:c.1093C>T, NM_004570.5:c.1093C>T, NM_004570.4:c.1093C>T, NM_001288772.2:c.1093C>T, NM_001288772.1:c.1093C>T, NM_001288774.2:c.427C>T, NM_001288774.1:c.427C>T, XM_017019478.3:c.1093C>T, XM_017019478.2:c.1093C>T, XM_017019478.1:c.1093C>T, XM_017019473.3:c.1093C>T, XM_017019473.2:c.1093C>T, XM_017019473.1:c.1093C>T, XM_011520701.3:c.1093C>T, XM_011520701.2:c.1093C>T, XM_011520701.1:c.1093C>T, XM_011520697.3:c.1093C>T, XM_011520697.2:c.1093C>T, XM_011520697.1:c.1093C>T, XR_931307.3:n.1431C>T, XR_931307.2:n.1328C>T, XR_931307.1:n.1272C>T, XM_017019475.2:c.1093C>T, XM_017019475.1:c.1093C>T, XM_017019471.2:c.1093C>T, XM_017019471.1:c.1093C>T, XM_047429007.1:c.1093C>T, XM_047429006.1:c.1093C>T, XM_047429008.1:c.1093C>T, XM_047429005.1:c.1093C>T, XM_047429010.1:c.427C>T, XM_047429009.1:c.1093C>T, NP_004561.3:p.His365Tyr, NP_001275701.1:p.His365Tyr, NP_001275703.1:p.His143Tyr, XP_016874967.1:p.His365Tyr, XP_016874962.1:p.His365Tyr, XP_011519003.1:p.His365Tyr, XP_011518999.1:p.His365Tyr, XP_016874964.1:p.His365Tyr, XP_016874960.1:p.His365Tyr, XP_047284963.1:p.His365Tyr, XP_047284962.1:p.His365Tyr, XP_047284964.1:p.His365Tyr, XP_047284961.1:p.His365Tyr, XP_047284966.1:p.His143Tyr, XP_047284965.1:p.His365Tyr

                                    18.

                                    rs1476501489 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      12:18538225 (GRCh38)
                                      12:18691159 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:18538224:G:C
                                      Gene:
                                      PIK3C2G (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000012.12:g.18538225G>C, NC_000012.11:g.18691159G>C, NG_050635.1:g.300261G>C, NM_004570.6:c.3270G>C, NM_004570.5:c.3270G>C, NM_004570.4:c.3270G>C, NM_001288772.2:c.3393G>C, NM_001288772.1:c.3393G>C, NM_001288774.2:c.2727G>C, NM_001288774.1:c.2727G>C, XM_017019473.3:c.3393G>C, XM_017019473.2:c.3393G>C, XM_017019473.1:c.3393G>C, XM_011520697.3:c.3393G>C, XM_011520697.2:c.3393G>C, XM_011520697.1:c.3393G>C, XM_017019475.2:c.3393G>C, XM_017019475.1:c.3393G>C, XM_017019471.2:c.3393G>C, XM_017019471.1:c.3393G>C, XM_017019479.2:c.1368G>C, XM_017019479.1:c.1368G>C, XM_047429007.1:c.3393G>C, XM_047429006.1:c.3393G>C, XM_047429008.1:c.3270G>C, XM_047429005.1:c.3393G>C, XM_047429010.1:c.2727G>C, XM_047429009.1:c.3270G>C, NP_004561.3:p.Gln1090His, NP_001275701.1:p.Gln1131His, NP_001275703.1:p.Gln909His, XP_016874962.1:p.Gln1131His, XP_011518999.1:p.Gln1131His, XP_016874964.1:p.Gln1131His, XP_016874960.1:p.Gln1131His, XP_016874968.1:p.Gln456His, XP_047284963.1:p.Gln1131His, XP_047284962.1:p.Gln1131His, XP_047284964.1:p.Gln1090His, XP_047284961.1:p.Gln1131His, XP_047284966.1:p.Gln909His, XP_047284965.1:p.Gln1090His

                                      19.

                                      rs1475624117 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        12:18497712 (GRCh38)
                                        12:18650646 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:18497711:A:T
                                        Gene:
                                        PIK3C2G (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000012.12:g.18497712A>T, NC_000012.11:g.18650646A>T, NG_050635.1:g.259748A>T, NM_004570.6:c.2857A>T, NM_004570.5:c.2857A>T, NM_004570.4:c.2857A>T, NM_001288772.2:c.2980A>T, NM_001288772.1:c.2980A>T, NM_001288774.2:c.2314A>T, NM_001288774.1:c.2314A>T, XM_017019473.3:c.2980A>T, XM_017019473.2:c.2980A>T, XM_017019473.1:c.2980A>T, XM_011520697.3:c.2980A>T, XM_011520697.2:c.2980A>T, XM_011520697.1:c.2980A>T, XM_017019475.2:c.2980A>T, XM_017019475.1:c.2980A>T, XM_017019471.2:c.2980A>T, XM_017019471.1:c.2980A>T, XM_017019479.2:c.955A>T, XM_017019479.1:c.955A>T, XM_047429007.1:c.2980A>T, XM_047429006.1:c.2980A>T, XM_047429008.1:c.2857A>T, XM_047429005.1:c.2980A>T, XM_047429010.1:c.2314A>T, XM_047429009.1:c.2857A>T, NP_004561.3:p.Ile953Phe, NP_001275701.1:p.Ile994Phe, NP_001275703.1:p.Ile772Phe, XP_016874962.1:p.Ile994Phe, XP_011518999.1:p.Ile994Phe, XP_016874964.1:p.Ile994Phe, XP_016874960.1:p.Ile994Phe, XP_016874968.1:p.Ile319Phe, XP_047284963.1:p.Ile994Phe, XP_047284962.1:p.Ile994Phe, XP_047284964.1:p.Ile953Phe, XP_047284961.1:p.Ile994Phe, XP_047284966.1:p.Ile772Phe, XP_047284965.1:p.Ile953Phe

                                        20.

                                        rs1474837610 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:18290981 (GRCh38)
                                          12:18443915 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:18290980:C:T
                                          Gene:
                                          PIK3C2G (Varview), LOC124902890 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000012.12:g.18290981C>T, NC_000012.11:g.18443915C>T, NG_050635.1:g.53017C>T, NM_004570.6:c.888C>T, NM_004570.5:c.888C>T, NM_004570.4:c.888C>T, NM_001288772.2:c.888C>T, NM_001288772.1:c.888C>T, NM_001288774.2:c.222C>T, NM_001288774.1:c.222C>T, XM_017019478.3:c.888C>T, XM_017019478.2:c.888C>T, XM_017019478.1:c.888C>T, XM_017019473.3:c.888C>T, XM_017019473.2:c.888C>T, XM_017019473.1:c.888C>T, XM_011520701.3:c.888C>T, XM_011520701.2:c.888C>T, XM_011520701.1:c.888C>T, XM_011520697.3:c.888C>T, XM_011520697.2:c.888C>T, XM_011520697.1:c.888C>T, XR_931307.3:n.1226C>T, XR_931307.2:n.1123C>T, XR_931307.1:n.1067C>T, XM_017019475.2:c.888C>T, XM_017019475.1:c.888C>T, XM_017019471.2:c.888C>T, XM_017019471.1:c.888C>T, XM_047429007.1:c.888C>T, XM_047429006.1:c.888C>T, XM_047429008.1:c.888C>T, XM_047429005.1:c.888C>T, XM_047429010.1:c.222C>T, XM_047429009.1:c.888C>T

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