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 210

1.

rs1489171098 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    21:46644465 (GRCh38)
    21:48064377 (GRCh37)
    Canonical SPDI:
    NC_000021.9:46644464:T:C
    Gene:
    PRMT2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000021.9:g.46644465T>C, NC_000021.8:g.48064377T>C, XM_005261111.5:c.304T>C, XM_005261111.4:c.304T>C, XM_005261111.3:c.304T>C, XM_005261111.2:c.304T>C, XM_005261111.1:c.304T>C, NM_001535.5:c.304T>C, NM_001535.4:c.304T>C, NM_001535.3:c.304T>C, XM_006723998.5:c.304T>C, XM_006723998.4:c.304T>C, XM_006723998.3:c.304T>C, XM_006723998.2:c.304T>C, XM_006723998.1:c.304T>C, NM_206962.4:c.304T>C, NM_206962.3:c.304T>C, NM_206962.2:c.304T>C, XM_006724000.4:c.304T>C, XM_006724000.3:c.304T>C, XM_006724000.2:c.304T>C, XM_006724000.1:c.304T>C, XM_006723999.4:c.304T>C, XM_006723999.3:c.304T>C, XM_006723999.2:c.304T>C, XM_006723999.1:c.304T>C, NM_001242865.3:c.304T>C, NM_001242865.2:c.304T>C, NM_001242865.1:c.304T>C, NM_001242866.3:c.304T>C, NM_001242866.2:c.304T>C, NM_001242866.1:c.304T>C, NM_001242864.3:c.304T>C, NM_001242864.2:c.304T>C, NM_001242864.1:c.304T>C, NM_001286677.2:c.304T>C, NM_001286677.1:c.304T>C, NM_001286676.2:c.304T>C, NM_001286676.1:c.304T>C, NM_001286678.2:c.304T>C, NM_001286678.1:c.304T>C, XM_047440759.1:c.304T>C, XM_047440761.1:c.304T>C, XM_047440760.1:c.304T>C, XP_005261168.1:p.Tyr102His, NP_001526.2:p.Tyr102His, XP_006724061.1:p.Tyr102His, NP_996845.1:p.Tyr102His, XP_006724063.1:p.Tyr102His, XP_006724062.1:p.Tyr102His, NP_001229794.1:p.Tyr102His, NP_001229795.1:p.Tyr102His, NP_001229793.1:p.Tyr102His, NP_001273606.1:p.Tyr102His, NP_001273605.1:p.Tyr102His, NP_001273607.1:p.Tyr102His, XP_047296715.1:p.Tyr102His, XP_047296717.1:p.Tyr102His, XP_047296716.1:p.Tyr102His

    2.

    rs1483891957 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      21:46644400 (GRCh38)
      21:48064312 (GRCh37)
      Canonical SPDI:
      NC_000021.9:46644399:C:T
      Gene:
      PRMT2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000011/3 (TOPMED)
      HGVS:
      NC_000021.9:g.46644400C>T, NC_000021.8:g.48064312C>T, XM_005261111.5:c.239C>T, XM_005261111.4:c.239C>T, XM_005261111.3:c.239C>T, XM_005261111.2:c.239C>T, XM_005261111.1:c.239C>T, NM_001535.5:c.239C>T, NM_001535.4:c.239C>T, NM_001535.3:c.239C>T, XM_006723998.5:c.239C>T, XM_006723998.4:c.239C>T, XM_006723998.3:c.239C>T, XM_006723998.2:c.239C>T, XM_006723998.1:c.239C>T, NM_206962.4:c.239C>T, NM_206962.3:c.239C>T, NM_206962.2:c.239C>T, XM_006724000.4:c.239C>T, XM_006724000.3:c.239C>T, XM_006724000.2:c.239C>T, XM_006724000.1:c.239C>T, XM_006723999.4:c.239C>T, XM_006723999.3:c.239C>T, XM_006723999.2:c.239C>T, XM_006723999.1:c.239C>T, NM_001242865.3:c.239C>T, NM_001242865.2:c.239C>T, NM_001242865.1:c.239C>T, NM_001242866.3:c.239C>T, NM_001242866.2:c.239C>T, NM_001242866.1:c.239C>T, NM_001242864.3:c.239C>T, NM_001242864.2:c.239C>T, NM_001242864.1:c.239C>T, NM_001286677.2:c.239C>T, NM_001286677.1:c.239C>T, NM_001286676.2:c.239C>T, NM_001286676.1:c.239C>T, NM_001286678.2:c.239C>T, NM_001286678.1:c.239C>T, XM_047440759.1:c.239C>T, XM_047440761.1:c.239C>T, XM_047440760.1:c.239C>T, XP_005261168.1:p.Pro80Leu, NP_001526.2:p.Pro80Leu, XP_006724061.1:p.Pro80Leu, NP_996845.1:p.Pro80Leu, XP_006724063.1:p.Pro80Leu, XP_006724062.1:p.Pro80Leu, NP_001229794.1:p.Pro80Leu, NP_001229795.1:p.Pro80Leu, NP_001229793.1:p.Pro80Leu, NP_001273606.1:p.Pro80Leu, NP_001273605.1:p.Pro80Leu, NP_001273607.1:p.Pro80Leu, XP_047296715.1:p.Pro80Leu, XP_047296717.1:p.Pro80Leu, XP_047296716.1:p.Pro80Leu

      3.

      rs1483078533 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        21:46644336 (GRCh38)
        21:48064248 (GRCh37)
        Canonical SPDI:
        NC_000021.9:46644335:A:C
        Gene:
        PRMT2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000102/2 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000021.9:g.46644336A>C, NC_000021.8:g.48064248A>C, XM_005261111.5:c.175A>C, XM_005261111.4:c.175A>C, XM_005261111.3:c.175A>C, XM_005261111.2:c.175A>C, XM_005261111.1:c.175A>C, NM_001535.5:c.175A>C, NM_001535.4:c.175A>C, NM_001535.3:c.175A>C, XM_006723998.5:c.175A>C, XM_006723998.4:c.175A>C, XM_006723998.3:c.175A>C, XM_006723998.2:c.175A>C, XM_006723998.1:c.175A>C, NM_206962.4:c.175A>C, NM_206962.3:c.175A>C, NM_206962.2:c.175A>C, XM_006724000.4:c.175A>C, XM_006724000.3:c.175A>C, XM_006724000.2:c.175A>C, XM_006724000.1:c.175A>C, XM_006723999.4:c.175A>C, XM_006723999.3:c.175A>C, XM_006723999.2:c.175A>C, XM_006723999.1:c.175A>C, NM_001242865.3:c.175A>C, NM_001242865.2:c.175A>C, NM_001242865.1:c.175A>C, NM_001242866.3:c.175A>C, NM_001242866.2:c.175A>C, NM_001242866.1:c.175A>C, NM_001242864.3:c.175A>C, NM_001242864.2:c.175A>C, NM_001242864.1:c.175A>C, NM_001286677.2:c.175A>C, NM_001286677.1:c.175A>C, NM_001286676.2:c.175A>C, NM_001286676.1:c.175A>C, NM_001286678.2:c.175A>C, NM_001286678.1:c.175A>C, XM_047440759.1:c.175A>C, XM_047440761.1:c.175A>C, XM_047440760.1:c.175A>C, XP_005261168.1:p.Ile59Leu, NP_001526.2:p.Ile59Leu, XP_006724061.1:p.Ile59Leu, NP_996845.1:p.Ile59Leu, XP_006724063.1:p.Ile59Leu, XP_006724062.1:p.Ile59Leu, NP_001229794.1:p.Ile59Leu, NP_001229795.1:p.Ile59Leu, NP_001229793.1:p.Ile59Leu, NP_001273606.1:p.Ile59Leu, NP_001273605.1:p.Ile59Leu, NP_001273607.1:p.Ile59Leu, XP_047296715.1:p.Ile59Leu, XP_047296717.1:p.Ile59Leu, XP_047296716.1:p.Ile59Leu

        4.

        rs1473459699 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          21:46644351 (GRCh38)
          21:48064263 (GRCh37)
          Canonical SPDI:
          NC_000021.9:46644350:A:G
          Gene:
          PRMT2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_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_000021.9:g.46644351A>G, NC_000021.8:g.48064263A>G, XM_005261111.5:c.190A>G, XM_005261111.4:c.190A>G, XM_005261111.3:c.190A>G, XM_005261111.2:c.190A>G, XM_005261111.1:c.190A>G, NM_001535.5:c.190A>G, NM_001535.4:c.190A>G, NM_001535.3:c.190A>G, XM_006723998.5:c.190A>G, XM_006723998.4:c.190A>G, XM_006723998.3:c.190A>G, XM_006723998.2:c.190A>G, XM_006723998.1:c.190A>G, NM_206962.4:c.190A>G, NM_206962.3:c.190A>G, NM_206962.2:c.190A>G, XM_006724000.4:c.190A>G, XM_006724000.3:c.190A>G, XM_006724000.2:c.190A>G, XM_006724000.1:c.190A>G, XM_006723999.4:c.190A>G, XM_006723999.3:c.190A>G, XM_006723999.2:c.190A>G, XM_006723999.1:c.190A>G, NM_001242865.3:c.190A>G, NM_001242865.2:c.190A>G, NM_001242865.1:c.190A>G, NM_001242866.3:c.190A>G, NM_001242866.2:c.190A>G, NM_001242866.1:c.190A>G, NM_001242864.3:c.190A>G, NM_001242864.2:c.190A>G, NM_001242864.1:c.190A>G, NM_001286677.2:c.190A>G, NM_001286677.1:c.190A>G, NM_001286676.2:c.190A>G, NM_001286676.1:c.190A>G, NM_001286678.2:c.190A>G, NM_001286678.1:c.190A>G, XM_047440759.1:c.190A>G, XM_047440761.1:c.190A>G, XM_047440760.1:c.190A>G, XP_005261168.1:p.Thr64Ala, NP_001526.2:p.Thr64Ala, XP_006724061.1:p.Thr64Ala, NP_996845.1:p.Thr64Ala, XP_006724063.1:p.Thr64Ala, XP_006724062.1:p.Thr64Ala, NP_001229794.1:p.Thr64Ala, NP_001229795.1:p.Thr64Ala, NP_001229793.1:p.Thr64Ala, NP_001273606.1:p.Thr64Ala, NP_001273605.1:p.Thr64Ala, NP_001273607.1:p.Thr64Ala, XP_047296715.1:p.Thr64Ala, XP_047296717.1:p.Thr64Ala, XP_047296716.1:p.Thr64Ala

          5.

          rs1466279233 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            21:46643589 (GRCh38)
            21:48063501 (GRCh37)
            Canonical SPDI:
            NC_000021.9:46643588:C:T
            Gene:
            PRMT2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_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_000021.9:g.46643589C>T, NC_000021.8:g.48063501C>T, XM_005261111.5:c.94C>T, XM_005261111.4:c.94C>T, XM_005261111.3:c.94C>T, XM_005261111.2:c.94C>T, XM_005261111.1:c.94C>T, NM_001535.5:c.94C>T, NM_001535.4:c.94C>T, NM_001535.3:c.94C>T, XM_006723998.5:c.94C>T, XM_006723998.4:c.94C>T, XM_006723998.3:c.94C>T, XM_006723998.2:c.94C>T, XM_006723998.1:c.94C>T, NM_206962.4:c.94C>T, NM_206962.3:c.94C>T, NM_206962.2:c.94C>T, XM_006724000.4:c.94C>T, XM_006724000.3:c.94C>T, XM_006724000.2:c.94C>T, XM_006724000.1:c.94C>T, XM_006723999.4:c.94C>T, XM_006723999.3:c.94C>T, XM_006723999.2:c.94C>T, XM_006723999.1:c.94C>T, NM_001242865.3:c.94C>T, NM_001242865.2:c.94C>T, NM_001242865.1:c.94C>T, NM_001242866.3:c.94C>T, NM_001242866.2:c.94C>T, NM_001242866.1:c.94C>T, NM_001242864.3:c.94C>T, NM_001242864.2:c.94C>T, NM_001242864.1:c.94C>T, NM_001286677.2:c.94C>T, NM_001286677.1:c.94C>T, NM_001286676.2:c.94C>T, NM_001286676.1:c.94C>T, NM_001286678.2:c.94C>T, NM_001286678.1:c.94C>T, XM_047440759.1:c.94C>T, XM_047440761.1:c.94C>T, XM_047440760.1:c.94C>T, XP_005261168.1:p.Pro32Ser, NP_001526.2:p.Pro32Ser, XP_006724061.1:p.Pro32Ser, NP_996845.1:p.Pro32Ser, XP_006724063.1:p.Pro32Ser, XP_006724062.1:p.Pro32Ser, NP_001229794.1:p.Pro32Ser, NP_001229795.1:p.Pro32Ser, NP_001229793.1:p.Pro32Ser, NP_001273606.1:p.Pro32Ser, NP_001273605.1:p.Pro32Ser, NP_001273607.1:p.Pro32Ser, XP_047296715.1:p.Pro32Ser, XP_047296717.1:p.Pro32Ser, XP_047296716.1:p.Pro32Ser

            6.

            rs1464743416 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              21:46648485 (GRCh38)
              21:48068397 (GRCh37)
              Canonical SPDI:
              NC_000021.9:46648484:C:G
              Gene:
              PRMT2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000021.9:g.46648485C>G, NC_000021.8:g.48068397C>G, XM_005261111.5:c.355C>G, XM_005261111.4:c.355C>G, XM_005261111.3:c.355C>G, XM_005261111.2:c.355C>G, XM_005261111.1:c.355C>G, NM_001535.5:c.355C>G, NM_001535.4:c.355C>G, NM_001535.3:c.355C>G, XM_006723998.5:c.355C>G, XM_006723998.4:c.355C>G, XM_006723998.3:c.355C>G, XM_006723998.2:c.355C>G, XM_006723998.1:c.355C>G, NM_206962.4:c.355C>G, NM_206962.3:c.355C>G, NM_206962.2:c.355C>G, XM_006724000.4:c.355C>G, XM_006724000.3:c.355C>G, XM_006724000.2:c.355C>G, XM_006724000.1:c.355C>G, XM_006723999.4:c.355C>G, XM_006723999.3:c.355C>G, XM_006723999.2:c.355C>G, XM_006723999.1:c.355C>G, NM_001242865.3:c.355C>G, NM_001242865.2:c.355C>G, NM_001242865.1:c.355C>G, NM_001242866.3:c.355C>G, NM_001242866.2:c.355C>G, NM_001242866.1:c.355C>G, NM_001242864.3:c.355C>G, NM_001242864.2:c.355C>G, NM_001242864.1:c.355C>G, NM_001286677.2:c.355C>G, NM_001286677.1:c.355C>G, NM_001286676.2:c.355C>G, NM_001286676.1:c.355C>G, NM_001286678.2:c.355C>G, NM_001286678.1:c.355C>G, XM_047440759.1:c.355C>G, XM_047440761.1:c.355C>G, XM_047440760.1:c.355C>G, XP_005261168.1:p.Gln119Glu, NP_001526.2:p.Gln119Glu, XP_006724061.1:p.Gln119Glu, NP_996845.1:p.Gln119Glu, XP_006724063.1:p.Gln119Glu, XP_006724062.1:p.Gln119Glu, NP_001229794.1:p.Gln119Glu, NP_001229795.1:p.Gln119Glu, NP_001229793.1:p.Gln119Glu, NP_001273606.1:p.Gln119Glu, NP_001273605.1:p.Gln119Glu, NP_001273607.1:p.Gln119Glu, XP_047296715.1:p.Gln119Glu, XP_047296717.1:p.Gln119Glu, XP_047296716.1:p.Gln119Glu

              7.

              rs1458384840 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                21:46649606 (GRCh38)
                21:48069518 (GRCh37)
                Canonical SPDI:
                NC_000021.9:46649605:A:C
                Gene:
                PRMT2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0./0 (GnomAD)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000021.9:g.46649606A>C, NC_000021.8:g.48069518A>C, XM_005261111.5:c.521A>C, XM_005261111.4:c.521A>C, XM_005261111.3:c.521A>C, XM_005261111.2:c.521A>C, XM_005261111.1:c.521A>C, NM_001535.5:c.521A>C, NM_001535.4:c.521A>C, NM_001535.3:c.521A>C, XM_006723998.5:c.521A>C, XM_006723998.4:c.521A>C, XM_006723998.3:c.521A>C, XM_006723998.2:c.521A>C, XM_006723998.1:c.521A>C, NM_206962.4:c.521A>C, NM_206962.3:c.521A>C, NM_206962.2:c.521A>C, XM_006724000.4:c.521A>C, XM_006724000.3:c.521A>C, XM_006724000.2:c.521A>C, XM_006724000.1:c.521A>C, XM_006723999.4:c.521A>C, XM_006723999.3:c.521A>C, XM_006723999.2:c.521A>C, XM_006723999.1:c.521A>C, NM_001242865.3:c.521A>C, NM_001242865.2:c.521A>C, NM_001242865.1:c.521A>C, NM_001242866.3:c.521A>C, NM_001242866.2:c.521A>C, NM_001242866.1:c.521A>C, NM_001242864.3:c.521A>C, NM_001242864.2:c.521A>C, NM_001242864.1:c.521A>C, NM_001286677.2:c.521A>C, NM_001286677.1:c.521A>C, NM_001286676.2:c.521A>C, NM_001286676.1:c.521A>C, NM_001286678.2:c.521A>C, NM_001286678.1:c.521A>C, XM_047440759.1:c.521A>C, XM_047440761.1:c.521A>C, XM_047440760.1:c.521A>C, XP_005261168.1:p.Gln174Pro, NP_001526.2:p.Gln174Pro, XP_006724061.1:p.Gln174Pro, NP_996845.1:p.Gln174Pro, XP_006724063.1:p.Gln174Pro, XP_006724062.1:p.Gln174Pro, NP_001229794.1:p.Gln174Pro, NP_001229795.1:p.Gln174Pro, NP_001229793.1:p.Gln174Pro, NP_001273606.1:p.Gln174Pro, NP_001273605.1:p.Gln174Pro, NP_001273607.1:p.Gln174Pro, XP_047296715.1:p.Gln174Pro, XP_047296717.1:p.Gln174Pro, XP_047296716.1:p.Gln174Pro

                8.

                rs1457242111 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  21:46636964 (GRCh38)
                  21:48056876 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:46636963:G:C
                  Gene:
                  PRMT2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000111/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000035/1 (TOMMO)
                  HGVS:
                  NC_000021.9:g.46636964G>C, NC_000021.8:g.48056876G>C, XM_005261111.5:c.13G>C, XM_005261111.4:c.13G>C, XM_005261111.3:c.13G>C, XM_005261111.2:c.13G>C, XM_005261111.1:c.13G>C, NM_001535.5:c.13G>C, NM_001535.4:c.13G>C, NM_001535.3:c.13G>C, XM_006723998.5:c.13G>C, XM_006723998.4:c.13G>C, XM_006723998.3:c.13G>C, XM_006723998.2:c.13G>C, XM_006723998.1:c.13G>C, NM_206962.4:c.13G>C, NM_206962.3:c.13G>C, NM_206962.2:c.13G>C, XM_006724000.4:c.13G>C, XM_006724000.3:c.13G>C, XM_006724000.2:c.13G>C, XM_006724000.1:c.13G>C, XM_006723999.4:c.13G>C, XM_006723999.3:c.13G>C, XM_006723999.2:c.13G>C, XM_006723999.1:c.13G>C, NM_001242865.3:c.13G>C, NM_001242865.2:c.13G>C, NM_001242865.1:c.13G>C, NM_001242866.3:c.13G>C, NM_001242866.2:c.13G>C, NM_001242866.1:c.13G>C, NM_001242864.3:c.13G>C, NM_001242864.2:c.13G>C, NM_001242864.1:c.13G>C, NM_001286677.2:c.13G>C, NM_001286677.1:c.13G>C, NM_001286676.2:c.13G>C, NM_001286676.1:c.13G>C, NM_001286678.2:c.13G>C, NM_001286678.1:c.13G>C, XM_047440759.1:c.13G>C, XM_047440761.1:c.13G>C, XM_047440760.1:c.13G>C, XP_005261168.1:p.Gly5Arg, NP_001526.2:p.Gly5Arg, XP_006724061.1:p.Gly5Arg, NP_996845.1:p.Gly5Arg, XP_006724063.1:p.Gly5Arg, XP_006724062.1:p.Gly5Arg, NP_001229794.1:p.Gly5Arg, NP_001229795.1:p.Gly5Arg, NP_001229793.1:p.Gly5Arg, NP_001273606.1:p.Gly5Arg, NP_001273605.1:p.Gly5Arg, NP_001273607.1:p.Gly5Arg, XP_047296715.1:p.Gly5Arg, XP_047296717.1:p.Gly5Arg, XP_047296716.1:p.Gly5Arg

                  9.

                  rs1443846444 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    21:46648545 (GRCh38)
                    21:48068457 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:46648544:A:G
                    Gene:
                    PRMT2 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000021.9:g.46648545A>G, NC_000021.8:g.48068457A>G, XM_005261111.5:c.415A>G, XM_005261111.4:c.415A>G, XM_005261111.3:c.415A>G, XM_005261111.2:c.415A>G, XM_005261111.1:c.415A>G, NM_001535.5:c.415A>G, NM_001535.4:c.415A>G, NM_001535.3:c.415A>G, XM_006723998.5:c.415A>G, XM_006723998.4:c.415A>G, XM_006723998.3:c.415A>G, XM_006723998.2:c.415A>G, XM_006723998.1:c.415A>G, NM_206962.4:c.415A>G, NM_206962.3:c.415A>G, NM_206962.2:c.415A>G, XM_006724000.4:c.415A>G, XM_006724000.3:c.415A>G, XM_006724000.2:c.415A>G, XM_006724000.1:c.415A>G, XM_006723999.4:c.415A>G, XM_006723999.3:c.415A>G, XM_006723999.2:c.415A>G, XM_006723999.1:c.415A>G, NM_001242865.3:c.415A>G, NM_001242865.2:c.415A>G, NM_001242865.1:c.415A>G, NM_001242866.3:c.415A>G, NM_001242866.2:c.415A>G, NM_001242866.1:c.415A>G, NM_001242864.3:c.415A>G, NM_001242864.2:c.415A>G, NM_001242864.1:c.415A>G, NM_001286677.2:c.415A>G, NM_001286677.1:c.415A>G, NM_001286676.2:c.415A>G, NM_001286676.1:c.415A>G, NM_001286678.2:c.415A>G, NM_001286678.1:c.415A>G, XM_047440759.1:c.415A>G, XM_047440761.1:c.415A>G, XM_047440760.1:c.415A>G, XP_005261168.1:p.Lys139Glu, NP_001526.2:p.Lys139Glu, XP_006724061.1:p.Lys139Glu, NP_996845.1:p.Lys139Glu, XP_006724063.1:p.Lys139Glu, XP_006724062.1:p.Lys139Glu, NP_001229794.1:p.Lys139Glu, NP_001229795.1:p.Lys139Glu, NP_001229793.1:p.Lys139Glu, NP_001273606.1:p.Lys139Glu, NP_001273605.1:p.Lys139Glu, NP_001273607.1:p.Lys139Glu, XP_047296715.1:p.Lys139Glu, XP_047296717.1:p.Lys139Glu, XP_047296716.1:p.Lys139Glu

                    10.

                    rs1438846657 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      21:46644451 (GRCh38)
                      21:48064363 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:46644450:G:A
                      Gene:
                      PRMT2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,stop_gained
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000021.9:g.46644451G>A, NC_000021.8:g.48064363G>A, XM_005261111.5:c.290G>A, XM_005261111.4:c.290G>A, XM_005261111.3:c.290G>A, XM_005261111.2:c.290G>A, XM_005261111.1:c.290G>A, NM_001535.5:c.290G>A, NM_001535.4:c.290G>A, NM_001535.3:c.290G>A, XM_006723998.5:c.290G>A, XM_006723998.4:c.290G>A, XM_006723998.3:c.290G>A, XM_006723998.2:c.290G>A, XM_006723998.1:c.290G>A, NM_206962.4:c.290G>A, NM_206962.3:c.290G>A, NM_206962.2:c.290G>A, XM_006724000.4:c.290G>A, XM_006724000.3:c.290G>A, XM_006724000.2:c.290G>A, XM_006724000.1:c.290G>A, XM_006723999.4:c.290G>A, XM_006723999.3:c.290G>A, XM_006723999.2:c.290G>A, XM_006723999.1:c.290G>A, NM_001242865.3:c.290G>A, NM_001242865.2:c.290G>A, NM_001242865.1:c.290G>A, NM_001242866.3:c.290G>A, NM_001242866.2:c.290G>A, NM_001242866.1:c.290G>A, NM_001242864.3:c.290G>A, NM_001242864.2:c.290G>A, NM_001242864.1:c.290G>A, NM_001286677.2:c.290G>A, NM_001286677.1:c.290G>A, NM_001286676.2:c.290G>A, NM_001286676.1:c.290G>A, NM_001286678.2:c.290G>A, NM_001286678.1:c.290G>A, XM_047440759.1:c.290G>A, XM_047440761.1:c.290G>A, XM_047440760.1:c.290G>A, XP_005261168.1:p.Trp97Ter, NP_001526.2:p.Trp97Ter, XP_006724061.1:p.Trp97Ter, NP_996845.1:p.Trp97Ter, XP_006724063.1:p.Trp97Ter, XP_006724062.1:p.Trp97Ter, NP_001229794.1:p.Trp97Ter, NP_001229795.1:p.Trp97Ter, NP_001229793.1:p.Trp97Ter, NP_001273606.1:p.Trp97Ter, NP_001273605.1:p.Trp97Ter, NP_001273607.1:p.Trp97Ter, XP_047296715.1:p.Trp97Ter, XP_047296717.1:p.Trp97Ter, XP_047296716.1:p.Trp97Ter

                      11.

                      rs1436612653 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        21:46643623 (GRCh38)
                        21:48063535 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:46643622:C:T
                        Gene:
                        PRMT2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        NC_000021.9:g.46643623C>T, NC_000021.8:g.48063535C>T, XM_005261111.5:c.128C>T, XM_005261111.4:c.128C>T, XM_005261111.3:c.128C>T, XM_005261111.2:c.128C>T, XM_005261111.1:c.128C>T, NM_001535.5:c.128C>T, NM_001535.4:c.128C>T, NM_001535.3:c.128C>T, XM_006723998.5:c.128C>T, XM_006723998.4:c.128C>T, XM_006723998.3:c.128C>T, XM_006723998.2:c.128C>T, XM_006723998.1:c.128C>T, NM_206962.4:c.128C>T, NM_206962.3:c.128C>T, NM_206962.2:c.128C>T, XM_006724000.4:c.128C>T, XM_006724000.3:c.128C>T, XM_006724000.2:c.128C>T, XM_006724000.1:c.128C>T, XM_006723999.4:c.128C>T, XM_006723999.3:c.128C>T, XM_006723999.2:c.128C>T, XM_006723999.1:c.128C>T, NM_001242865.3:c.128C>T, NM_001242865.2:c.128C>T, NM_001242865.1:c.128C>T, NM_001242866.3:c.128C>T, NM_001242866.2:c.128C>T, NM_001242866.1:c.128C>T, NM_001242864.3:c.128C>T, NM_001242864.2:c.128C>T, NM_001242864.1:c.128C>T, NM_001286677.2:c.128C>T, NM_001286677.1:c.128C>T, NM_001286676.2:c.128C>T, NM_001286676.1:c.128C>T, NM_001286678.2:c.128C>T, NM_001286678.1:c.128C>T, XM_047440759.1:c.128C>T, XM_047440761.1:c.128C>T, XM_047440760.1:c.128C>T, XP_005261168.1:p.Ala43Val, NP_001526.2:p.Ala43Val, XP_006724061.1:p.Ala43Val, NP_996845.1:p.Ala43Val, XP_006724063.1:p.Ala43Val, XP_006724062.1:p.Ala43Val, NP_001229794.1:p.Ala43Val, NP_001229795.1:p.Ala43Val, NP_001229793.1:p.Ala43Val, NP_001273606.1:p.Ala43Val, NP_001273605.1:p.Ala43Val, NP_001273607.1:p.Ala43Val, XP_047296715.1:p.Ala43Val, XP_047296717.1:p.Ala43Val, XP_047296716.1:p.Ala43Val

                        12.

                        rs1433488950 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          21:46644468 (GRCh38)
                          21:48064380 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:46644467:T:A
                          Gene:
                          PRMT2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000021.9:g.46644468T>A, NC_000021.8:g.48064380T>A, XM_005261111.5:c.307T>A, XM_005261111.4:c.307T>A, XM_005261111.3:c.307T>A, XM_005261111.2:c.307T>A, XM_005261111.1:c.307T>A, NM_001535.5:c.307T>A, NM_001535.4:c.307T>A, NM_001535.3:c.307T>A, XM_006723998.5:c.307T>A, XM_006723998.4:c.307T>A, XM_006723998.3:c.307T>A, XM_006723998.2:c.307T>A, XM_006723998.1:c.307T>A, NM_206962.4:c.307T>A, NM_206962.3:c.307T>A, NM_206962.2:c.307T>A, XM_006724000.4:c.307T>A, XM_006724000.3:c.307T>A, XM_006724000.2:c.307T>A, XM_006724000.1:c.307T>A, XM_006723999.4:c.307T>A, XM_006723999.3:c.307T>A, XM_006723999.2:c.307T>A, XM_006723999.1:c.307T>A, NM_001242865.3:c.307T>A, NM_001242865.2:c.307T>A, NM_001242865.1:c.307T>A, NM_001242866.3:c.307T>A, NM_001242866.2:c.307T>A, NM_001242866.1:c.307T>A, NM_001242864.3:c.307T>A, NM_001242864.2:c.307T>A, NM_001242864.1:c.307T>A, NM_001286677.2:c.307T>A, NM_001286677.1:c.307T>A, NM_001286676.2:c.307T>A, NM_001286676.1:c.307T>A, NM_001286678.2:c.307T>A, NM_001286678.1:c.307T>A, XM_047440759.1:c.307T>A, XM_047440761.1:c.307T>A, XM_047440760.1:c.307T>A, XP_005261168.1:p.Phe103Ile, NP_001526.2:p.Phe103Ile, XP_006724061.1:p.Phe103Ile, NP_996845.1:p.Phe103Ile, XP_006724063.1:p.Phe103Ile, XP_006724062.1:p.Phe103Ile, NP_001229794.1:p.Phe103Ile, NP_001229795.1:p.Phe103Ile, NP_001229793.1:p.Phe103Ile, NP_001273606.1:p.Phe103Ile, NP_001273605.1:p.Phe103Ile, NP_001273607.1:p.Phe103Ile, XP_047296715.1:p.Phe103Ile, XP_047296717.1:p.Phe103Ile, XP_047296716.1:p.Phe103Ile

                          13.

                          rs1427677709 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            21:46649575 (GRCh38)
                            21:48069487 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:46649574:G:A
                            Gene:
                            PRMT2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            HGVS:
                            NC_000021.9:g.46649575G>A, NC_000021.8:g.48069487G>A, XM_005261111.5:c.490G>A, XM_005261111.4:c.490G>A, XM_005261111.3:c.490G>A, XM_005261111.2:c.490G>A, XM_005261111.1:c.490G>A, NM_001535.5:c.490G>A, NM_001535.4:c.490G>A, NM_001535.3:c.490G>A, XM_006723998.5:c.490G>A, XM_006723998.4:c.490G>A, XM_006723998.3:c.490G>A, XM_006723998.2:c.490G>A, XM_006723998.1:c.490G>A, NM_206962.4:c.490G>A, NM_206962.3:c.490G>A, NM_206962.2:c.490G>A, XM_006724000.4:c.490G>A, XM_006724000.3:c.490G>A, XM_006724000.2:c.490G>A, XM_006724000.1:c.490G>A, XM_006723999.4:c.490G>A, XM_006723999.3:c.490G>A, XM_006723999.2:c.490G>A, XM_006723999.1:c.490G>A, NM_001242865.3:c.490G>A, NM_001242865.2:c.490G>A, NM_001242865.1:c.490G>A, NM_001242866.3:c.490G>A, NM_001242866.2:c.490G>A, NM_001242866.1:c.490G>A, NM_001242864.3:c.490G>A, NM_001242864.2:c.490G>A, NM_001242864.1:c.490G>A, NM_001286677.2:c.490G>A, NM_001286677.1:c.490G>A, NM_001286676.2:c.490G>A, NM_001286676.1:c.490G>A, NM_001286678.2:c.490G>A, NM_001286678.1:c.490G>A, XM_047440759.1:c.490G>A, XM_047440761.1:c.490G>A, XM_047440760.1:c.490G>A, XP_005261168.1:p.Val164Met, NP_001526.2:p.Val164Met, XP_006724061.1:p.Val164Met, NP_996845.1:p.Val164Met, XP_006724063.1:p.Val164Met, XP_006724062.1:p.Val164Met, NP_001229794.1:p.Val164Met, NP_001229795.1:p.Val164Met, NP_001229793.1:p.Val164Met, NP_001273606.1:p.Val164Met, NP_001273605.1:p.Val164Met, NP_001273607.1:p.Val164Met, XP_047296715.1:p.Val164Met, XP_047296717.1:p.Val164Met, XP_047296716.1:p.Val164Met

                            14.

                            rs1424428908 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              21:46636989 (GRCh38)
                              21:48056901 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:46636988:A:G,NC_000021.9:46636988:A:T
                              Gene:
                              PRMT2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              G=0.000106/2 (TOMMO)
                              HGVS:
                              NC_000021.9:g.46636989A>G, NC_000021.9:g.46636989A>T, NC_000021.8:g.48056901A>G, NC_000021.8:g.48056901A>T, XM_005261111.5:c.38A>G, XM_005261111.5:c.38A>T, XM_005261111.4:c.38A>G, XM_005261111.4:c.38A>T, XM_005261111.3:c.38A>G, XM_005261111.3:c.38A>T, XM_005261111.2:c.38A>G, XM_005261111.2:c.38A>T, XM_005261111.1:c.38A>G, XM_005261111.1:c.38A>T, NM_001535.5:c.38A>G, NM_001535.5:c.38A>T, NM_001535.4:c.38A>G, NM_001535.4:c.38A>T, NM_001535.3:c.38A>G, NM_001535.3:c.38A>T, XM_006723998.5:c.38A>G, XM_006723998.5:c.38A>T, XM_006723998.4:c.38A>G, XM_006723998.4:c.38A>T, XM_006723998.3:c.38A>G, XM_006723998.3:c.38A>T, XM_006723998.2:c.38A>G, XM_006723998.2:c.38A>T, XM_006723998.1:c.38A>G, XM_006723998.1:c.38A>T, NM_206962.4:c.38A>G, NM_206962.4:c.38A>T, NM_206962.3:c.38A>G, NM_206962.3:c.38A>T, NM_206962.2:c.38A>G, NM_206962.2:c.38A>T, XM_006724000.4:c.38A>G, XM_006724000.4:c.38A>T, XM_006724000.3:c.38A>G, XM_006724000.3:c.38A>T, XM_006724000.2:c.38A>G, XM_006724000.2:c.38A>T, XM_006724000.1:c.38A>G, XM_006724000.1:c.38A>T, XM_006723999.4:c.38A>G, XM_006723999.4:c.38A>T, XM_006723999.3:c.38A>G, XM_006723999.3:c.38A>T, XM_006723999.2:c.38A>G, XM_006723999.2:c.38A>T, XM_006723999.1:c.38A>G, XM_006723999.1:c.38A>T, NM_001242865.3:c.38A>G, NM_001242865.3:c.38A>T, NM_001242865.2:c.38A>G, NM_001242865.2:c.38A>T, NM_001242865.1:c.38A>G, NM_001242865.1:c.38A>T, NM_001242866.3:c.38A>G, NM_001242866.3:c.38A>T, NM_001242866.2:c.38A>G, NM_001242866.2:c.38A>T, NM_001242866.1:c.38A>G, NM_001242866.1:c.38A>T, NM_001242864.3:c.38A>G, NM_001242864.3:c.38A>T, NM_001242864.2:c.38A>G, NM_001242864.2:c.38A>T, NM_001242864.1:c.38A>G, NM_001242864.1:c.38A>T, NM_001286677.2:c.38A>G, NM_001286677.2:c.38A>T, NM_001286677.1:c.38A>G, NM_001286677.1:c.38A>T, NM_001286676.2:c.38A>G, NM_001286676.2:c.38A>T, NM_001286676.1:c.38A>G, NM_001286676.1:c.38A>T, NM_001286678.2:c.38A>G, NM_001286678.2:c.38A>T, NM_001286678.1:c.38A>G, NM_001286678.1:c.38A>T, XM_047440759.1:c.38A>G, XM_047440759.1:c.38A>T, XM_047440761.1:c.38A>G, XM_047440761.1:c.38A>T, XM_047440760.1:c.38A>G, XM_047440760.1:c.38A>T, XP_005261168.1:p.Gln13Arg, XP_005261168.1:p.Gln13Leu, NP_001526.2:p.Gln13Arg, NP_001526.2:p.Gln13Leu, XP_006724061.1:p.Gln13Arg, XP_006724061.1:p.Gln13Leu, NP_996845.1:p.Gln13Arg, NP_996845.1:p.Gln13Leu, XP_006724063.1:p.Gln13Arg, XP_006724063.1:p.Gln13Leu, XP_006724062.1:p.Gln13Arg, XP_006724062.1:p.Gln13Leu, NP_001229794.1:p.Gln13Arg, NP_001229794.1:p.Gln13Leu, NP_001229795.1:p.Gln13Arg, NP_001229795.1:p.Gln13Leu, NP_001229793.1:p.Gln13Arg, NP_001229793.1:p.Gln13Leu, NP_001273606.1:p.Gln13Arg, NP_001273606.1:p.Gln13Leu, NP_001273605.1:p.Gln13Arg, NP_001273605.1:p.Gln13Leu, NP_001273607.1:p.Gln13Arg, NP_001273607.1:p.Gln13Leu, XP_047296715.1:p.Gln13Arg, XP_047296715.1:p.Gln13Leu, XP_047296717.1:p.Gln13Arg, XP_047296717.1:p.Gln13Leu, XP_047296716.1:p.Gln13Arg, XP_047296716.1:p.Gln13Leu

                              15.

                              rs1413200264 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                21:46644367 (GRCh38)
                                21:48064279 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:46644366:GGGG:GGG
                                Gene:
                                PRMT2 (Varview)
                                Functional Consequence:
                                frameshift_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GGG=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000021.9:g.46644370del, NC_000021.8:g.48064282del, XM_005261111.5:c.209del, XM_005261111.4:c.209del, XM_005261111.3:c.209del, XM_005261111.2:c.209del, XM_005261111.1:c.209del, NM_001535.5:c.209del, NM_001535.4:c.209del, NM_001535.3:c.209del, XM_006723998.5:c.209del, XM_006723998.4:c.209del, XM_006723998.3:c.209del, XM_006723998.2:c.209del, XM_006723998.1:c.209del, NM_206962.4:c.209del, NM_206962.3:c.209del, NM_206962.2:c.209del, XM_006724000.4:c.209del, XM_006724000.3:c.209del, XM_006724000.2:c.209del, XM_006724000.1:c.209del, XM_006723999.4:c.209del, XM_006723999.3:c.209del, XM_006723999.2:c.209del, XM_006723999.1:c.209del, NM_001242865.3:c.209del, NM_001242865.2:c.209del, NM_001242865.1:c.209del, NM_001242866.3:c.209del, NM_001242866.2:c.209del, NM_001242866.1:c.209del, NM_001242864.3:c.209del, NM_001242864.2:c.209del, NM_001242864.1:c.209del, NM_001286677.2:c.209del, NM_001286677.1:c.209del, NM_001286676.2:c.209del, NM_001286676.1:c.209del, NM_001286678.2:c.209del, NM_001286678.1:c.209del, XM_047440759.1:c.209del, XM_047440761.1:c.209del, XM_047440760.1:c.209del, XP_005261168.1:p.Gly70fs, NP_001526.2:p.Gly70fs, XP_006724061.1:p.Gly70fs, NP_996845.1:p.Gly70fs, XP_006724063.1:p.Gly70fs, XP_006724062.1:p.Gly70fs, NP_001229794.1:p.Gly70fs, NP_001229795.1:p.Gly70fs, NP_001229793.1:p.Gly70fs, NP_001273606.1:p.Gly70fs, NP_001273605.1:p.Gly70fs, NP_001273607.1:p.Gly70fs, XP_047296715.1:p.Gly70fs, XP_047296717.1:p.Gly70fs, XP_047296716.1:p.Gly70fs

                                16.

                                rs1406807584 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->G [Show Flanks]
                                  Chromosome:
                                  21:46644474 (GRCh38)
                                  21:48064387 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:46644474:G:GG
                                  Gene:
                                  PRMT2 (Varview)
                                  Functional Consequence:
                                  frameshift_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GG=0./0 (ALFA)
                                  HGVS:
                                  NC_000021.9:g.46644475dup, NC_000021.8:g.48064387dup, XM_005261111.5:c.314dup, XM_005261111.4:c.314dup, XM_005261111.3:c.314dup, XM_005261111.2:c.314dup, XM_005261111.1:c.314dup, NM_001535.5:c.314dup, NM_001535.4:c.314dup, NM_001535.3:c.314dup, XM_006723998.5:c.314dup, XM_006723998.4:c.314dup, XM_006723998.3:c.314dup, XM_006723998.2:c.314dup, XM_006723998.1:c.314dup, NM_206962.4:c.314dup, NM_206962.3:c.314dup, NM_206962.2:c.314dup, XM_006724000.4:c.314dup, XM_006724000.3:c.314dup, XM_006724000.2:c.314dup, XM_006724000.1:c.314dup, XM_006723999.4:c.314dup, XM_006723999.3:c.314dup, XM_006723999.2:c.314dup, XM_006723999.1:c.314dup, NM_001242865.3:c.314dup, NM_001242865.2:c.314dup, NM_001242865.1:c.314dup, NM_001242866.3:c.314dup, NM_001242866.2:c.314dup, NM_001242866.1:c.314dup, NM_001242864.3:c.314dup, NM_001242864.2:c.314dup, NM_001242864.1:c.314dup, NM_001286677.2:c.314dup, NM_001286677.1:c.314dup, NM_001286676.2:c.314dup, NM_001286676.1:c.314dup, NM_001286678.2:c.314dup, NM_001286678.1:c.314dup, XM_047440759.1:c.314dup, XM_047440761.1:c.314dup, XM_047440760.1:c.314dup, XP_005261168.1:p.Ser105fs, NP_001526.2:p.Ser105fs, XP_006724061.1:p.Ser105fs, NP_996845.1:p.Ser105fs, XP_006724063.1:p.Ser105fs, XP_006724062.1:p.Ser105fs, NP_001229794.1:p.Ser105fs, NP_001229795.1:p.Ser105fs, NP_001229793.1:p.Ser105fs, NP_001273606.1:p.Ser105fs, NP_001273605.1:p.Ser105fs, NP_001273607.1:p.Ser105fs, XP_047296715.1:p.Ser105fs, XP_047296717.1:p.Ser105fs, XP_047296716.1:p.Ser105fs

                                  17.

                                  rs1386664782 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    21:46649622 (GRCh38)
                                    21:48069534 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:46649621:G:C
                                    Gene:
                                    PRMT2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000021.9:g.46649622G>C, NC_000021.8:g.48069534G>C, XM_005261111.5:c.537G>C, XM_005261111.4:c.537G>C, XM_005261111.3:c.537G>C, XM_005261111.2:c.537G>C, XM_005261111.1:c.537G>C, NM_001535.5:c.537G>C, NM_001535.4:c.537G>C, NM_001535.3:c.537G>C, XM_006723998.5:c.537G>C, XM_006723998.4:c.537G>C, XM_006723998.3:c.537G>C, XM_006723998.2:c.537G>C, XM_006723998.1:c.537G>C, NM_206962.4:c.537G>C, NM_206962.3:c.537G>C, NM_206962.2:c.537G>C, XM_006724000.4:c.537G>C, XM_006724000.3:c.537G>C, XM_006724000.2:c.537G>C, XM_006724000.1:c.537G>C, XM_006723999.4:c.537G>C, XM_006723999.3:c.537G>C, XM_006723999.2:c.537G>C, XM_006723999.1:c.537G>C, NM_001242865.3:c.537G>C, NM_001242865.2:c.537G>C, NM_001242865.1:c.537G>C, NM_001242866.3:c.537G>C, NM_001242866.2:c.537G>C, NM_001242866.1:c.537G>C, NM_001242864.3:c.537G>C, NM_001242864.2:c.537G>C, NM_001242864.1:c.537G>C, NM_001286677.2:c.537G>C, NM_001286677.1:c.537G>C, NM_001286676.2:c.537G>C, NM_001286676.1:c.537G>C, NM_001286678.2:c.537G>C, NM_001286678.1:c.537G>C, XM_047440759.1:c.537G>C, XM_047440761.1:c.537G>C, XM_047440760.1:c.537G>C

                                    18.

                                    rs1380771670 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      21:46648486 (GRCh38)
                                      21:48068398 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:46648485:A:G
                                      Gene:
                                      PRMT2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      HGVS:
                                      NC_000021.9:g.46648486A>G, NC_000021.8:g.48068398A>G, XM_005261111.5:c.356A>G, XM_005261111.4:c.356A>G, XM_005261111.3:c.356A>G, XM_005261111.2:c.356A>G, XM_005261111.1:c.356A>G, NM_001535.5:c.356A>G, NM_001535.4:c.356A>G, NM_001535.3:c.356A>G, XM_006723998.5:c.356A>G, XM_006723998.4:c.356A>G, XM_006723998.3:c.356A>G, XM_006723998.2:c.356A>G, XM_006723998.1:c.356A>G, NM_206962.4:c.356A>G, NM_206962.3:c.356A>G, NM_206962.2:c.356A>G, XM_006724000.4:c.356A>G, XM_006724000.3:c.356A>G, XM_006724000.2:c.356A>G, XM_006724000.1:c.356A>G, XM_006723999.4:c.356A>G, XM_006723999.3:c.356A>G, XM_006723999.2:c.356A>G, XM_006723999.1:c.356A>G, NM_001242865.3:c.356A>G, NM_001242865.2:c.356A>G, NM_001242865.1:c.356A>G, NM_001242866.3:c.356A>G, NM_001242866.2:c.356A>G, NM_001242866.1:c.356A>G, NM_001242864.3:c.356A>G, NM_001242864.2:c.356A>G, NM_001242864.1:c.356A>G, NM_001286677.2:c.356A>G, NM_001286677.1:c.356A>G, NM_001286676.2:c.356A>G, NM_001286676.1:c.356A>G, NM_001286678.2:c.356A>G, NM_001286678.1:c.356A>G, XM_047440759.1:c.356A>G, XM_047440761.1:c.356A>G, XM_047440760.1:c.356A>G, XP_005261168.1:p.Gln119Arg, NP_001526.2:p.Gln119Arg, XP_006724061.1:p.Gln119Arg, NP_996845.1:p.Gln119Arg, XP_006724063.1:p.Gln119Arg, XP_006724062.1:p.Gln119Arg, NP_001229794.1:p.Gln119Arg, NP_001229795.1:p.Gln119Arg, NP_001229793.1:p.Gln119Arg, NP_001273606.1:p.Gln119Arg, NP_001273605.1:p.Gln119Arg, NP_001273607.1:p.Gln119Arg, XP_047296715.1:p.Gln119Arg, XP_047296717.1:p.Gln119Arg, XP_047296716.1:p.Gln119Arg

                                      19.

                                      rs1380105024 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        21:46643631 (GRCh38)
                                        21:48063543 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:46643630:G:A
                                        Gene:
                                        PRMT2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000021.9:g.46643631G>A, NC_000021.8:g.48063543G>A, XM_005261111.5:c.136G>A, XM_005261111.4:c.136G>A, XM_005261111.3:c.136G>A, XM_005261111.2:c.136G>A, XM_005261111.1:c.136G>A, NM_001535.5:c.136G>A, NM_001535.4:c.136G>A, NM_001535.3:c.136G>A, XM_006723998.5:c.136G>A, XM_006723998.4:c.136G>A, XM_006723998.3:c.136G>A, XM_006723998.2:c.136G>A, XM_006723998.1:c.136G>A, NM_206962.4:c.136G>A, NM_206962.3:c.136G>A, NM_206962.2:c.136G>A, XM_006724000.4:c.136G>A, XM_006724000.3:c.136G>A, XM_006724000.2:c.136G>A, XM_006724000.1:c.136G>A, XM_006723999.4:c.136G>A, XM_006723999.3:c.136G>A, XM_006723999.2:c.136G>A, XM_006723999.1:c.136G>A, NM_001242865.3:c.136G>A, NM_001242865.2:c.136G>A, NM_001242865.1:c.136G>A, NM_001242866.3:c.136G>A, NM_001242866.2:c.136G>A, NM_001242866.1:c.136G>A, NM_001242864.3:c.136G>A, NM_001242864.2:c.136G>A, NM_001242864.1:c.136G>A, NM_001286677.2:c.136G>A, NM_001286677.1:c.136G>A, NM_001286676.2:c.136G>A, NM_001286676.1:c.136G>A, NM_001286678.2:c.136G>A, NM_001286678.1:c.136G>A, XM_047440759.1:c.136G>A, XM_047440761.1:c.136G>A, XM_047440760.1:c.136G>A, XP_005261168.1:p.Glu46Lys, NP_001526.2:p.Glu46Lys, XP_006724061.1:p.Glu46Lys, NP_996845.1:p.Glu46Lys, XP_006724063.1:p.Glu46Lys, XP_006724062.1:p.Glu46Lys, NP_001229794.1:p.Glu46Lys, NP_001229795.1:p.Glu46Lys, NP_001229793.1:p.Glu46Lys, NP_001273606.1:p.Glu46Lys, NP_001273605.1:p.Glu46Lys, NP_001273607.1:p.Glu46Lys, XP_047296715.1:p.Glu46Lys, XP_047296717.1:p.Glu46Lys, XP_047296716.1:p.Glu46Lys

                                        20.

                                        rs1377076573 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          21:46648473 (GRCh38)
                                          21:48068385 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:46648472:A:G
                                          Gene:
                                          PRMT2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_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_000021.9:g.46648473A>G, NC_000021.8:g.48068385A>G, XM_005261111.5:c.343A>G, XM_005261111.4:c.343A>G, XM_005261111.3:c.343A>G, XM_005261111.2:c.343A>G, XM_005261111.1:c.343A>G, NM_001535.5:c.343A>G, NM_001535.4:c.343A>G, NM_001535.3:c.343A>G, XM_006723998.5:c.343A>G, XM_006723998.4:c.343A>G, XM_006723998.3:c.343A>G, XM_006723998.2:c.343A>G, XM_006723998.1:c.343A>G, NM_206962.4:c.343A>G, NM_206962.3:c.343A>G, NM_206962.2:c.343A>G, XM_006724000.4:c.343A>G, XM_006724000.3:c.343A>G, XM_006724000.2:c.343A>G, XM_006724000.1:c.343A>G, XM_006723999.4:c.343A>G, XM_006723999.3:c.343A>G, XM_006723999.2:c.343A>G, XM_006723999.1:c.343A>G, NM_001242865.3:c.343A>G, NM_001242865.2:c.343A>G, NM_001242865.1:c.343A>G, NM_001242866.3:c.343A>G, NM_001242866.2:c.343A>G, NM_001242866.1:c.343A>G, NM_001242864.3:c.343A>G, NM_001242864.2:c.343A>G, NM_001242864.1:c.343A>G, NM_001286677.2:c.343A>G, NM_001286677.1:c.343A>G, NM_001286676.2:c.343A>G, NM_001286676.1:c.343A>G, NM_001286678.2:c.343A>G, NM_001286678.1:c.343A>G, XM_047440759.1:c.343A>G, XM_047440761.1:c.343A>G, XM_047440760.1:c.343A>G, XP_005261168.1:p.Met115Val, NP_001526.2:p.Met115Val, XP_006724061.1:p.Met115Val, NP_996845.1:p.Met115Val, XP_006724063.1:p.Met115Val, XP_006724062.1:p.Met115Val, NP_001229794.1:p.Met115Val, NP_001229795.1:p.Met115Val, NP_001229793.1:p.Met115Val, NP_001273606.1:p.Met115Val, NP_001273605.1:p.Met115Val, NP_001273607.1:p.Met115Val, XP_047296715.1:p.Met115Val, XP_047296717.1:p.Met115Val, XP_047296716.1:p.Met115Val

                                          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...