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Items: 1 to 20 of 215

1.

rs1487388747 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:30417519 (GRCh38)
    11:30439066 (GRCh37)
    Canonical SPDI:
    NC_000011.10:30417518:T:C
    Gene:
    MPPED2 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant
    HGVS:

    2.

    rs1486644007 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      11:30580290 (GRCh38)
      11:30601837 (GRCh37)
      Canonical SPDI:
      NC_000011.10:30580289:G:T
      Gene:
      MPPED2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      NC_000011.10:g.30580290G>T, NC_000011.9:g.30601837G>T, XM_005253114.5:c.84C>A, XM_005253114.4:c.84C>A, XM_005253114.3:c.84C>A, XM_005253114.2:c.84C>A, XM_005253114.1:c.84C>A, NM_001145399.3:c.84C>A, NM_001145399.2:c.84C>A, NM_001145399.1:c.84C>A, NM_001584.3:c.84C>A, NM_001584.2:c.84C>A, XM_005253111.3:c.84C>A, XM_005253111.2:c.84C>A, XM_005253111.1:c.84C>A, XM_017018231.2:c.-276C>A, XM_017018231.1:c.-276C>A, XM_024448676.2:c.84C>A, XM_024448676.1:c.84C>A, NM_001377956.1:c.84C>A, XM_047427524.1:c.84C>A, NR_165343.1:n.569C>A, NR_165342.1:n.517C>A, NR_165340.1:n.517C>A, NR_165348.1:n.517C>A, NM_001377953.1:c.84C>A, NM_001377952.1:c.84C>A, NR_165338.1:n.517C>A, NR_165339.1:n.517C>A, NR_165337.1:n.517C>A, NR_165344.1:n.569C>A, NR_165346.1:n.280C>A, NR_165336.1:n.517C>A, NR_165341.1:n.517C>A, XM_047427525.1:c.84C>A, NR_165345.1:n.462C>A, NM_001377954.1:c.84C>A, NM_001377955.1:c.84C>A, NR_165347.1:n.278C>A, XR_007062496.1:n.517C>A, XP_005253171.1:p.His28Gln, NP_001138871.1:p.His28Gln, NP_001575.1:p.His28Gln, XP_005253168.1:p.His28Gln, XP_024304444.1:p.His28Gln, NP_001364885.1:p.His28Gln, XP_047283480.1:p.His28Gln, NP_001364882.1:p.His28Gln, NP_001364881.1:p.His28Gln, XP_047283481.1:p.His28Gln, NP_001364883.1:p.His28Gln, NP_001364884.1:p.His28Gln

      3.

      rs1484796785 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        11:30495435 (GRCh38)
        11:30516982 (GRCh37)
        Canonical SPDI:
        NC_000011.10:30495434:G:C
        Gene:
        MPPED2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.30495435G>C, NC_000011.9:g.30516982G>C, XM_005253114.5:c.397C>G, XM_005253114.4:c.397C>G, XM_005253114.3:c.397C>G, XM_005253114.2:c.397C>G, XM_005253114.1:c.397C>G, NM_001145399.3:c.397C>G, NM_001145399.2:c.397C>G, NM_001145399.1:c.397C>G, NM_001584.3:c.397C>G, NM_001584.2:c.397C>G, XM_005253111.3:c.397C>G, XM_005253111.2:c.397C>G, XM_005253111.1:c.397C>G, XM_017018231.2:c.370C>G, XM_017018231.1:c.370C>G, XM_024448676.2:c.397C>G, XM_024448676.1:c.397C>G, NM_001377956.1:c.397C>G, XM_047427524.1:c.397C>G, NR_165343.1:n.980C>G, NR_165342.1:n.1005C>G, NR_165340.1:n.965C>G, NR_165348.1:n.928C>G, NM_001377953.1:c.397C>G, NM_001377952.1:c.397C>G, NR_165338.1:n.853C>G, NR_165339.1:n.746C>G, NR_165337.1:n.743C>G, NR_165344.1:n.700C>G, NR_165346.1:n.691C>G, NR_165336.1:n.648C>G, XM_047427525.1:c.397C>G, NR_165345.1:n.593C>G, NM_001377954.1:c.397C>G, NM_001377955.1:c.397C>G, NR_165347.1:n.544C>G, XR_007062496.1:n.830C>G, XP_005253171.1:p.Gln133Glu, NP_001138871.1:p.Gln133Glu, NP_001575.1:p.Gln133Glu, XP_005253168.1:p.Gln133Glu, XP_016873720.1:p.Gln124Glu, XP_024304444.1:p.Gln133Glu, NP_001364885.1:p.Gln133Glu, XP_047283480.1:p.Gln133Glu, NP_001364882.1:p.Gln133Glu, NP_001364881.1:p.Gln133Glu, XP_047283481.1:p.Gln133Glu, NP_001364883.1:p.Gln133Glu, NP_001364884.1:p.Gln133Glu

        4.

        rs1475535486 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          11:30388953 (GRCh38)
          11:30410500 (GRCh37)
          Canonical SPDI:
          NC_000011.10:30388952:T:C
          Gene:
          MPPED2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:

          5.

          rs1475366902 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            11:30536077 (GRCh38)
            11:30557624 (GRCh37)
            Canonical SPDI:
            NC_000011.10:30536076:G:C
            Gene:
            MPPED2 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.30536077G>C, NC_000011.9:g.30557624G>C, XM_005253114.5:c.227C>G, XM_005253114.4:c.227C>G, XM_005253114.3:c.227C>G, XM_005253114.2:c.227C>G, XM_005253114.1:c.227C>G, NM_001145399.3:c.227C>G, NM_001145399.2:c.227C>G, NM_001145399.1:c.227C>G, NM_001584.3:c.227C>G, NM_001584.2:c.227C>G, XM_005253111.3:c.227C>G, XM_005253111.2:c.227C>G, XM_005253111.1:c.227C>G, XM_017018231.2:c.200C>G, XM_017018231.1:c.200C>G, XM_024448676.2:c.227C>G, XM_024448676.1:c.227C>G, NM_001377956.1:c.227C>G, XM_047427524.1:c.227C>G, NR_165343.1:n.712C>G, NR_165342.1:n.835C>G, NR_165340.1:n.795C>G, NR_165348.1:n.660C>G, NM_001377953.1:c.227C>G, NM_001377952.1:c.227C>G, NR_165338.1:n.683C>G, NR_165346.1:n.423C>G, NR_165341.1:n.660C>G, XM_047427525.1:c.227C>G, NM_001377954.1:c.227C>G, NM_001377955.1:c.227C>G, XR_007062496.1:n.660C>G, XP_005253171.1:p.Pro76Arg, NP_001138871.1:p.Pro76Arg, NP_001575.1:p.Pro76Arg, XP_005253168.1:p.Pro76Arg, XP_016873720.1:p.Pro67Arg, XP_024304444.1:p.Pro76Arg, NP_001364885.1:p.Pro76Arg, XP_047283480.1:p.Pro76Arg, NP_001364882.1:p.Pro76Arg, NP_001364881.1:p.Pro76Arg, XP_047283481.1:p.Pro76Arg, NP_001364883.1:p.Pro76Arg, NP_001364884.1:p.Pro76Arg

            6.

            rs1474386847 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:30495349 (GRCh38)
              11:30516896 (GRCh37)
              Canonical SPDI:
              NC_000011.10:30495348:G:A
              Gene:
              MPPED2 (Varview)
              Functional Consequence:
              intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000011/3 (TOPMED)
              HGVS:
              NC_000011.10:g.30495349G>A, NC_000011.9:g.30516896G>A, XM_005253114.5:c.483C>T, XM_005253114.4:c.483C>T, XM_005253114.3:c.483C>T, XM_005253114.2:c.483C>T, XM_005253114.1:c.483C>T, NM_001145399.3:c.483C>T, NM_001145399.2:c.483C>T, NM_001145399.1:c.483C>T, NM_001584.3:c.483C>T, NM_001584.2:c.483C>T, XM_005253111.3:c.483C>T, XM_005253111.2:c.483C>T, XM_005253111.1:c.483C>T, XM_017018231.2:c.456C>T, XM_017018231.1:c.456C>T, XM_024448676.2:c.483C>T, XM_024448676.1:c.483C>T, NM_001377956.1:c.483C>T, XM_047427524.1:c.483C>T, NR_165343.1:n.1066C>T, NR_165342.1:n.1091C>T, NR_165340.1:n.1051C>T, NR_165348.1:n.1014C>T, NM_001377953.1:c.483C>T, NM_001377952.1:c.483C>T, NR_165338.1:n.939C>T, NR_165339.1:n.832C>T, NR_165337.1:n.829C>T, NR_165344.1:n.786C>T, NR_165346.1:n.777C>T, NR_165336.1:n.734C>T, XM_047427525.1:c.483C>T, NR_165345.1:n.679C>T, NM_001377954.1:c.483C>T, NM_001377955.1:c.483C>T, NR_165347.1:n.630C>T, XR_007062496.1:n.916C>T

              7.

              rs1474332982 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:30388913 (GRCh38)
                11:30410460 (GRCh37)
                Canonical SPDI:
                NC_000011.10:30388912:A:G
                Gene:
                MPPED2 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                G=0.000006/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1472066004 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:30495407 (GRCh38)
                  11:30516954 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:30495406:G:A
                  Gene:
                  MPPED2 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_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_000011.10:g.30495407G>A, NC_000011.9:g.30516954G>A, XM_005253114.5:c.425C>T, XM_005253114.4:c.425C>T, XM_005253114.3:c.425C>T, XM_005253114.2:c.425C>T, XM_005253114.1:c.425C>T, NM_001145399.3:c.425C>T, NM_001145399.2:c.425C>T, NM_001145399.1:c.425C>T, NM_001584.3:c.425C>T, NM_001584.2:c.425C>T, XM_005253111.3:c.425C>T, XM_005253111.2:c.425C>T, XM_005253111.1:c.425C>T, XM_017018231.2:c.398C>T, XM_017018231.1:c.398C>T, XM_024448676.2:c.425C>T, XM_024448676.1:c.425C>T, NM_001377956.1:c.425C>T, XM_047427524.1:c.425C>T, NR_165343.1:n.1008C>T, NR_165342.1:n.1033C>T, NR_165340.1:n.993C>T, NR_165348.1:n.956C>T, NM_001377953.1:c.425C>T, NM_001377952.1:c.425C>T, NR_165338.1:n.881C>T, NR_165339.1:n.774C>T, NR_165337.1:n.771C>T, NR_165344.1:n.728C>T, NR_165346.1:n.719C>T, NR_165336.1:n.676C>T, XM_047427525.1:c.425C>T, NR_165345.1:n.621C>T, NM_001377954.1:c.425C>T, NM_001377955.1:c.425C>T, NR_165347.1:n.572C>T, XR_007062496.1:n.858C>T, XP_005253171.1:p.Ser142Phe, NP_001138871.1:p.Ser142Phe, NP_001575.1:p.Ser142Phe, XP_005253168.1:p.Ser142Phe, XP_016873720.1:p.Ser133Phe, XP_024304444.1:p.Ser142Phe, NP_001364885.1:p.Ser142Phe, XP_047283480.1:p.Ser142Phe, NP_001364882.1:p.Ser142Phe, NP_001364881.1:p.Ser142Phe, XP_047283481.1:p.Ser142Phe, NP_001364883.1:p.Ser142Phe, NP_001364884.1:p.Ser142Phe

                  9.

                  rs1471918474 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:30536010 (GRCh38)
                    11:30557557 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:30536009:C:T
                    Gene:
                    MPPED2 (Varview)
                    Functional Consequence:
                    intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                    HGVS:
                    NC_000011.10:g.30536010C>T, NC_000011.9:g.30557557C>T, XM_005253114.5:c.294G>A, XM_005253114.4:c.294G>A, XM_005253114.3:c.294G>A, XM_005253114.2:c.294G>A, XM_005253114.1:c.294G>A, NM_001145399.3:c.294G>A, NM_001145399.2:c.294G>A, NM_001145399.1:c.294G>A, NM_001584.3:c.294G>A, NM_001584.2:c.294G>A, XM_005253111.3:c.294G>A, XM_005253111.2:c.294G>A, XM_005253111.1:c.294G>A, XM_017018231.2:c.267G>A, XM_017018231.1:c.267G>A, XM_024448676.2:c.294G>A, XM_024448676.1:c.294G>A, NM_001377956.1:c.294G>A, XM_047427524.1:c.294G>A, NR_165343.1:n.779G>A, NR_165342.1:n.902G>A, NR_165340.1:n.862G>A, NR_165348.1:n.727G>A, NM_001377953.1:c.294G>A, NM_001377952.1:c.294G>A, NR_165338.1:n.750G>A, NR_165346.1:n.490G>A, NR_165341.1:n.727G>A, XM_047427525.1:c.294G>A, NM_001377954.1:c.294G>A, NM_001377955.1:c.294G>A, XR_007062496.1:n.727G>A

                    10.

                    rs1468025000 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      11:30580331 (GRCh38)
                      11:30601878 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:30580330:C:A,NC_000011.10:30580330:C:T
                      Gene:
                      MPPED2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000011.10:g.30580331C>A, NC_000011.10:g.30580331C>T, NC_000011.9:g.30601878C>A, NC_000011.9:g.30601878C>T, XM_005253114.5:c.43G>T, XM_005253114.5:c.43G>A, XM_005253114.4:c.43G>T, XM_005253114.4:c.43G>A, XM_005253114.3:c.43G>T, XM_005253114.3:c.43G>A, XM_005253114.2:c.43G>T, XM_005253114.2:c.43G>A, XM_005253114.1:c.43G>T, XM_005253114.1:c.43G>A, NM_001145399.3:c.43G>T, NM_001145399.3:c.43G>A, NM_001145399.2:c.43G>T, NM_001145399.2:c.43G>A, NM_001145399.1:c.43G>T, NM_001145399.1:c.43G>A, NM_001584.3:c.43G>T, NM_001584.3:c.43G>A, NM_001584.2:c.43G>T, NM_001584.2:c.43G>A, XM_005253111.3:c.43G>T, XM_005253111.3:c.43G>A, XM_005253111.2:c.43G>T, XM_005253111.2:c.43G>A, XM_005253111.1:c.43G>T, XM_005253111.1:c.43G>A, XM_017018231.2:c.-317G>T, XM_017018231.2:c.-317G>A, XM_024448676.2:c.43G>T, XM_024448676.2:c.43G>A, XM_024448676.1:c.43G>T, XM_024448676.1:c.43G>A, NM_001377956.1:c.43G>T, NM_001377956.1:c.43G>A, XM_047427524.1:c.43G>T, XM_047427524.1:c.43G>A, NR_165343.1:n.528G>T, NR_165343.1:n.528G>A, NR_165342.1:n.476G>T, NR_165342.1:n.476G>A, NR_165340.1:n.476G>T, NR_165340.1:n.476G>A, NR_165348.1:n.476G>T, NR_165348.1:n.476G>A, NM_001377953.1:c.43G>T, NM_001377953.1:c.43G>A, NM_001377952.1:c.43G>T, NM_001377952.1:c.43G>A, NR_165338.1:n.476G>T, NR_165338.1:n.476G>A, NR_165339.1:n.476G>T, NR_165339.1:n.476G>A, NR_165337.1:n.476G>T, NR_165337.1:n.476G>A, NR_165344.1:n.528G>T, NR_165344.1:n.528G>A, NR_165346.1:n.239G>T, NR_165346.1:n.239G>A, NR_165336.1:n.476G>T, NR_165336.1:n.476G>A, NR_165341.1:n.476G>T, NR_165341.1:n.476G>A, XM_047427525.1:c.43G>T, XM_047427525.1:c.43G>A, NR_165345.1:n.421G>T, NR_165345.1:n.421G>A, NM_001377954.1:c.43G>T, NM_001377954.1:c.43G>A, NM_001377955.1:c.43G>T, NM_001377955.1:c.43G>A, NR_165347.1:n.237G>T, NR_165347.1:n.237G>A, XR_007062496.1:n.476G>T, XR_007062496.1:n.476G>A, XP_005253171.1:p.Val15Leu, XP_005253171.1:p.Val15Met, NP_001138871.1:p.Val15Leu, NP_001138871.1:p.Val15Met, NP_001575.1:p.Val15Leu, NP_001575.1:p.Val15Met, XP_005253168.1:p.Val15Leu, XP_005253168.1:p.Val15Met, XP_024304444.1:p.Val15Leu, XP_024304444.1:p.Val15Met, NP_001364885.1:p.Val15Leu, NP_001364885.1:p.Val15Met, XP_047283480.1:p.Val15Leu, XP_047283480.1:p.Val15Met, NP_001364882.1:p.Val15Leu, NP_001364882.1:p.Val15Met, NP_001364881.1:p.Val15Leu, NP_001364881.1:p.Val15Met, XP_047283481.1:p.Val15Leu, XP_047283481.1:p.Val15Met, NP_001364883.1:p.Val15Leu, NP_001364883.1:p.Val15Met, NP_001364884.1:p.Val15Leu, NP_001364884.1:p.Val15Met

                      11.

                      rs1465702573 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        11:30495379 (GRCh38)
                        11:30516926 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:30495378:A:G,NC_000011.10:30495378:A:T
                        Gene:
                        MPPED2 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        NC_000011.10:g.30495379A>G, NC_000011.10:g.30495379A>T, NC_000011.9:g.30516926A>G, NC_000011.9:g.30516926A>T, XM_005253114.5:c.453T>C, XM_005253114.5:c.453T>A, XM_005253114.4:c.453T>C, XM_005253114.4:c.453T>A, XM_005253114.3:c.453T>C, XM_005253114.3:c.453T>A, XM_005253114.2:c.453T>C, XM_005253114.2:c.453T>A, XM_005253114.1:c.453T>C, XM_005253114.1:c.453T>A, NM_001145399.3:c.453T>C, NM_001145399.3:c.453T>A, NM_001145399.2:c.453T>C, NM_001145399.2:c.453T>A, NM_001145399.1:c.453T>C, NM_001145399.1:c.453T>A, NM_001584.3:c.453T>C, NM_001584.3:c.453T>A, NM_001584.2:c.453T>C, NM_001584.2:c.453T>A, XM_005253111.3:c.453T>C, XM_005253111.3:c.453T>A, XM_005253111.2:c.453T>C, XM_005253111.2:c.453T>A, XM_005253111.1:c.453T>C, XM_005253111.1:c.453T>A, XM_017018231.2:c.426T>C, XM_017018231.2:c.426T>A, XM_017018231.1:c.426T>C, XM_017018231.1:c.426T>A, XM_024448676.2:c.453T>C, XM_024448676.2:c.453T>A, XM_024448676.1:c.453T>C, XM_024448676.1:c.453T>A, NM_001377956.1:c.453T>C, NM_001377956.1:c.453T>A, XM_047427524.1:c.453T>C, XM_047427524.1:c.453T>A, NR_165343.1:n.1036T>C, NR_165343.1:n.1036T>A, NR_165342.1:n.1061T>C, NR_165342.1:n.1061T>A, NR_165340.1:n.1021T>C, NR_165340.1:n.1021T>A, NR_165348.1:n.984T>C, NR_165348.1:n.984T>A, NM_001377953.1:c.453T>C, NM_001377953.1:c.453T>A, NM_001377952.1:c.453T>C, NM_001377952.1:c.453T>A, NR_165338.1:n.909T>C, NR_165338.1:n.909T>A, NR_165339.1:n.802T>C, NR_165339.1:n.802T>A, NR_165337.1:n.799T>C, NR_165337.1:n.799T>A, NR_165344.1:n.756T>C, NR_165344.1:n.756T>A, NR_165346.1:n.747T>C, NR_165346.1:n.747T>A, NR_165336.1:n.704T>C, NR_165336.1:n.704T>A, XM_047427525.1:c.453T>C, XM_047427525.1:c.453T>A, NR_165345.1:n.649T>C, NR_165345.1:n.649T>A, NM_001377954.1:c.453T>C, NM_001377954.1:c.453T>A, NM_001377955.1:c.453T>C, NM_001377955.1:c.453T>A, NR_165347.1:n.600T>C, NR_165347.1:n.600T>A, XR_007062496.1:n.886T>C, XR_007062496.1:n.886T>A, XP_005253171.1:p.Asn151Lys, NP_001138871.1:p.Asn151Lys, NP_001575.1:p.Asn151Lys, XP_005253168.1:p.Asn151Lys, XP_016873720.1:p.Asn142Lys, XP_024304444.1:p.Asn151Lys, NP_001364885.1:p.Asn151Lys, XP_047283480.1:p.Asn151Lys, NP_001364882.1:p.Asn151Lys, NP_001364881.1:p.Asn151Lys, XP_047283481.1:p.Asn151Lys, NP_001364883.1:p.Asn151Lys, NP_001364884.1:p.Asn151Lys

                        12.

                        rs1465147628 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:30388893 (GRCh38)
                          11:30410440 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:30388892:G:A
                          Gene:
                          MPPED2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1458564010 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:30414268 (GRCh38)
                            11:30435815 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:30414267:T:C
                            Gene:
                            MPPED2 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1453535781 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:30495356 (GRCh38)
                              11:30516903 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:30495355:C:T
                              Gene:
                              MPPED2 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.30495356C>T, NC_000011.9:g.30516903C>T, XM_005253114.5:c.476G>A, XM_005253114.4:c.476G>A, XM_005253114.3:c.476G>A, XM_005253114.2:c.476G>A, XM_005253114.1:c.476G>A, NM_001145399.3:c.476G>A, NM_001145399.2:c.476G>A, NM_001145399.1:c.476G>A, NM_001584.3:c.476G>A, NM_001584.2:c.476G>A, XM_005253111.3:c.476G>A, XM_005253111.2:c.476G>A, XM_005253111.1:c.476G>A, XM_017018231.2:c.449G>A, XM_017018231.1:c.449G>A, XM_024448676.2:c.476G>A, XM_024448676.1:c.476G>A, NM_001377956.1:c.476G>A, XM_047427524.1:c.476G>A, NR_165343.1:n.1059G>A, NR_165342.1:n.1084G>A, NR_165340.1:n.1044G>A, NR_165348.1:n.1007G>A, NM_001377953.1:c.476G>A, NM_001377952.1:c.476G>A, NR_165338.1:n.932G>A, NR_165339.1:n.825G>A, NR_165337.1:n.822G>A, NR_165344.1:n.779G>A, NR_165346.1:n.770G>A, NR_165336.1:n.727G>A, XM_047427525.1:c.476G>A, NR_165345.1:n.672G>A, NM_001377954.1:c.476G>A, NM_001377955.1:c.476G>A, NR_165347.1:n.623G>A, XR_007062496.1:n.909G>A, XP_005253171.1:p.Ser159Asn, NP_001138871.1:p.Ser159Asn, NP_001575.1:p.Ser159Asn, XP_005253168.1:p.Ser159Asn, XP_016873720.1:p.Ser150Asn, XP_024304444.1:p.Ser159Asn, NP_001364885.1:p.Ser159Asn, XP_047283480.1:p.Ser159Asn, NP_001364882.1:p.Ser159Asn, NP_001364881.1:p.Ser159Asn, XP_047283481.1:p.Ser159Asn, NP_001364883.1:p.Ser159Asn, NP_001364884.1:p.Ser159Asn

                              15.

                              rs1451634854 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:30536130 (GRCh38)
                                11:30557677 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:30536129:C:T
                                Gene:
                                MPPED2 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000043/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                T=0.000016/4 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.30536130C>T, NC_000011.9:g.30557677C>T, XM_005253114.5:c.174G>A, XM_005253114.4:c.174G>A, XM_005253114.3:c.174G>A, XM_005253114.2:c.174G>A, XM_005253114.1:c.174G>A, NM_001145399.3:c.174G>A, NM_001145399.2:c.174G>A, NM_001145399.1:c.174G>A, NM_001584.3:c.174G>A, NM_001584.2:c.174G>A, XM_005253111.3:c.174G>A, XM_005253111.2:c.174G>A, XM_005253111.1:c.174G>A, XM_017018231.2:c.147G>A, XM_017018231.1:c.147G>A, XM_024448676.2:c.174G>A, XM_024448676.1:c.174G>A, NM_001377956.1:c.174G>A, XM_047427524.1:c.174G>A, NR_165343.1:n.659G>A, NR_165342.1:n.782G>A, NR_165340.1:n.742G>A, NR_165348.1:n.607G>A, NM_001377953.1:c.174G>A, NM_001377952.1:c.174G>A, NR_165338.1:n.630G>A, NR_165346.1:n.370G>A, NR_165341.1:n.607G>A, XM_047427525.1:c.174G>A, NM_001377954.1:c.174G>A, NM_001377955.1:c.174G>A, XR_007062496.1:n.607G>A

                                16.

                                rs1449618988 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:30495312 (GRCh38)
                                  11:30516859 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:30495311:T:C
                                  Gene:
                                  MPPED2 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.30495312T>C, NC_000011.9:g.30516859T>C, XM_005253114.5:c.520A>G, XM_005253114.4:c.520A>G, XM_005253114.3:c.520A>G, XM_005253114.2:c.520A>G, XM_005253114.1:c.520A>G, NM_001145399.3:c.520A>G, NM_001145399.2:c.520A>G, NM_001145399.1:c.520A>G, NM_001584.3:c.520A>G, NM_001584.2:c.520A>G, XM_005253111.3:c.520A>G, XM_005253111.2:c.520A>G, XM_005253111.1:c.520A>G, XM_017018231.2:c.493A>G, XM_017018231.1:c.493A>G, XM_024448676.2:c.520A>G, XM_024448676.1:c.520A>G, NM_001377956.1:c.520A>G, XM_047427524.1:c.520A>G, NR_165343.1:n.1103A>G, NR_165342.1:n.1128A>G, NR_165340.1:n.1088A>G, NR_165348.1:n.1051A>G, NM_001377953.1:c.520A>G, NM_001377952.1:c.520A>G, NR_165338.1:n.976A>G, NR_165339.1:n.869A>G, NR_165337.1:n.866A>G, NR_165344.1:n.823A>G, NR_165346.1:n.814A>G, NR_165336.1:n.771A>G, XM_047427525.1:c.520A>G, NR_165345.1:n.716A>G, NM_001377954.1:c.520A>G, NM_001377955.1:c.520A>G, NR_165347.1:n.667A>G, XR_007062496.1:n.953A>G, XP_005253171.1:p.Ile174Val, NP_001138871.1:p.Ile174Val, NP_001575.1:p.Ile174Val, XP_005253168.1:p.Ile174Val, XP_016873720.1:p.Ile165Val, XP_024304444.1:p.Ile174Val, NP_001364885.1:p.Ile174Val, XP_047283480.1:p.Ile174Val, NP_001364882.1:p.Ile174Val, NP_001364881.1:p.Ile174Val, XP_047283481.1:p.Ile174Val, NP_001364883.1:p.Ile174Val, NP_001364884.1:p.Ile174Val

                                  17.

                                  rs1444259359 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    11:30536066 (GRCh38)
                                    11:30557613 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:30536065:T:C
                                    Gene:
                                    MPPED2 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000011.10:g.30536066T>C, NC_000011.9:g.30557613T>C, XM_005253114.5:c.238A>G, XM_005253114.4:c.238A>G, XM_005253114.3:c.238A>G, XM_005253114.2:c.238A>G, XM_005253114.1:c.238A>G, NM_001145399.3:c.238A>G, NM_001145399.2:c.238A>G, NM_001145399.1:c.238A>G, NM_001584.3:c.238A>G, NM_001584.2:c.238A>G, XM_005253111.3:c.238A>G, XM_005253111.2:c.238A>G, XM_005253111.1:c.238A>G, XM_017018231.2:c.211A>G, XM_017018231.1:c.211A>G, XM_024448676.2:c.238A>G, XM_024448676.1:c.238A>G, NM_001377956.1:c.238A>G, XM_047427524.1:c.238A>G, NR_165343.1:n.723A>G, NR_165342.1:n.846A>G, NR_165340.1:n.806A>G, NR_165348.1:n.671A>G, NM_001377953.1:c.238A>G, NM_001377952.1:c.238A>G, NR_165338.1:n.694A>G, NR_165346.1:n.434A>G, NR_165341.1:n.671A>G, XM_047427525.1:c.238A>G, NM_001377954.1:c.238A>G, NM_001377955.1:c.238A>G, XR_007062496.1:n.671A>G, XP_005253171.1:p.Ile80Val, NP_001138871.1:p.Ile80Val, NP_001575.1:p.Ile80Val, XP_005253168.1:p.Ile80Val, XP_016873720.1:p.Ile71Val, XP_024304444.1:p.Ile80Val, NP_001364885.1:p.Ile80Val, XP_047283480.1:p.Ile80Val, NP_001364882.1:p.Ile80Val, NP_001364881.1:p.Ile80Val, XP_047283481.1:p.Ile80Val, NP_001364883.1:p.Ile80Val, NP_001364884.1:p.Ile80Val

                                    18.

                                    rs1439511781 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:30580278 (GRCh38)
                                      11:30601825 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:30580277:G:A
                                      Gene:
                                      MPPED2 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.30580278G>A, NC_000011.9:g.30601825G>A, XM_005253114.5:c.96C>T, XM_005253114.4:c.96C>T, XM_005253114.3:c.96C>T, XM_005253114.2:c.96C>T, XM_005253114.1:c.96C>T, NM_001145399.3:c.96C>T, NM_001145399.2:c.96C>T, NM_001145399.1:c.96C>T, NM_001584.3:c.96C>T, NM_001584.2:c.96C>T, XM_005253111.3:c.96C>T, XM_005253111.2:c.96C>T, XM_005253111.1:c.96C>T, XM_017018231.2:c.-264C>T, XM_017018231.1:c.-264C>T, XM_024448676.2:c.96C>T, XM_024448676.1:c.96C>T, NM_001377956.1:c.96C>T, XM_047427524.1:c.96C>T, NR_165343.1:n.581C>T, NR_165342.1:n.529C>T, NR_165340.1:n.529C>T, NR_165348.1:n.529C>T, NM_001377953.1:c.96C>T, NM_001377952.1:c.96C>T, NR_165338.1:n.529C>T, NR_165339.1:n.529C>T, NR_165337.1:n.529C>T, NR_165344.1:n.581C>T, NR_165346.1:n.292C>T, NR_165336.1:n.529C>T, NR_165341.1:n.529C>T, XM_047427525.1:c.96C>T, NR_165345.1:n.474C>T, NM_001377954.1:c.96C>T, NM_001377955.1:c.96C>T, NR_165347.1:n.290C>T, XR_007062496.1:n.529C>T

                                      19.

                                      rs1439400865 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        11:30580361 (GRCh38)
                                        11:30601908 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:30580360:T:
                                        Gene:
                                        MPPED2 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0.000111/1 (ALFA)
                                        -=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.30580361del, NC_000011.9:g.30601908del, XM_005253114.5:c.13del, XM_005253114.4:c.13del, XM_005253114.3:c.13del, XM_005253114.2:c.13del, XM_005253114.1:c.13del, NM_001145399.3:c.13del, NM_001145399.2:c.13del, NM_001145399.1:c.13del, NM_001584.3:c.13del, NM_001584.2:c.13del, XM_005253111.3:c.13del, XM_005253111.2:c.13del, XM_005253111.1:c.13del, XM_017018231.2:c.-347del, XM_024448676.2:c.13del, XM_024448676.1:c.13del, NM_001377956.1:c.13del, XM_047427524.1:c.13del, NR_165343.1:n.498del, NR_165342.1:n.446del, NR_165340.1:n.446del, NR_165348.1:n.446del, NM_001377953.1:c.13del, NM_001377952.1:c.13del, NR_165338.1:n.446del, NR_165339.1:n.446del, NR_165337.1:n.446del, NR_165344.1:n.498del, NR_165346.1:n.209del, NR_165336.1:n.446del, NR_165341.1:n.446del, XM_047427525.1:c.13del, NR_165345.1:n.391del, NM_001377954.1:c.13del, NM_001377955.1:c.13del, NR_165347.1:n.207del, XR_007062496.1:n.446del, XP_005253171.1:p.Ile5fs, NP_001138871.1:p.Ile5fs, NP_001575.1:p.Ile5fs, XP_005253168.1:p.Ile5fs, XP_024304444.1:p.Ile5fs, NP_001364885.1:p.Ile5fs, XP_047283480.1:p.Ile5fs, NP_001364882.1:p.Ile5fs, NP_001364881.1:p.Ile5fs, XP_047283481.1:p.Ile5fs, NP_001364883.1:p.Ile5fs, NP_001364884.1:p.Ile5fs

                                        20.

                                        rs1438966161 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          11:30417577 (GRCh38)
                                          11:30439124 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:30417576:T:A
                                          Gene:
                                          MPPED2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000047/1 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.30417577T>A, NC_000011.9:g.30439124T>A, NM_001145399.3:c.593A>T, NM_001145399.2:c.593A>T, NM_001145399.1:c.593A>T, NM_001584.3:c.593A>T, NM_001584.2:c.593A>T, XM_005253111.3:c.593A>T, XM_005253111.2:c.593A>T, XM_005253111.1:c.593A>T, XM_017018231.2:c.566A>T, XM_017018231.1:c.566A>T, XM_024448676.2:c.593A>T, XM_024448676.1:c.593A>T, NM_001377956.1:c.593A>T, XM_047427524.1:c.593A>T, NR_165342.1:n.1201A>T, NR_165340.1:n.1161A>T, NR_165348.1:n.1124A>T, NM_001377953.1:c.593A>T, NM_001377952.1:c.593A>T, NR_165338.1:n.1049A>T, NR_165339.1:n.942A>T, NR_165337.1:n.939A>T, NR_165344.1:n.896A>T, NR_165346.1:n.887A>T, NR_165336.1:n.844A>T, NR_165341.1:n.800A>T, XM_047427525.1:c.593A>T, NR_165345.1:n.789A>T, NM_001377954.1:c.593A>T, NM_001377955.1:c.593A>T, NR_165347.1:n.740A>T, XR_007062496.1:n.1170A>T, NP_001138871.1:p.Asp198Val, NP_001575.1:p.Asp198Val, XP_005253168.1:p.Asp198Val, XP_016873720.1:p.Asp189Val, XP_024304444.1:p.Asp198Val, NP_001364885.1:p.Asp198Val, XP_047283480.1:p.Asp198Val, NP_001364882.1:p.Asp198Val, NP_001364881.1:p.Asp198Val, XP_047283481.1:p.Asp198Val, NP_001364883.1:p.Asp198Val, NP_001364884.1:p.Asp198Val

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