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Items: 1 to 20 of 219

1.

rs1484082573 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    8:125151267 (GRCh38)
    8:126163509 (GRCh37)
    Canonical SPDI:
    NC_000008.11:125151266:C:T
    Gene:
    NSMCE2 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_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_000008.11:g.125151267C>T, NC_000008.10:g.126163509C>T, NG_053069.1:g.64450C>T, NM_173685.4:c.254C>T, NM_173685.3:c.254C>T, NM_173685.2:c.254C>T, NR_146191.2:n.500C>T, NR_146191.1:n.537C>T, NM_001349486.2:c.254C>T, NM_001349486.1:c.254C>T, NM_001349485.2:c.254C>T, NM_001349485.1:c.254C>T, NR_146192.2:n.500C>T, NR_146192.1:n.537C>T, NM_001349487.2:c.254C>T, NM_001349487.1:c.254C>T, XM_017013332.3:c.260C>T, XM_017013332.2:c.260C>T, XM_017013332.1:c.260C>T, XM_017013330.3:c.260C>T, XM_017013330.2:c.260C>T, XM_017013330.1:c.260C>T, XM_011516974.3:c.254C>T, XM_011516974.2:c.254C>T, XM_011516974.1:c.254C>T, XM_011516975.3:c.254C>T, XM_011516975.2:c.254C>T, XM_011516975.1:c.254C>T, XM_017013331.2:c.254C>T, XM_017013331.1:c.254C>T, XM_024447130.2:c.254C>T, XM_024447130.1:c.254C>T, XM_047421704.1:c.254C>T, XM_047421702.1:c.254C>T, XM_047421705.1:c.254C>T, XM_047421703.1:c.254C>T, NP_775956.1:p.Thr85Ile, NP_001336415.1:p.Thr85Ile, NP_001336414.1:p.Thr85Ile, NP_001336416.1:p.Thr85Ile, XP_016868821.1:p.Thr87Ile, XP_016868819.1:p.Thr87Ile, XP_011515276.1:p.Thr85Ile, XP_011515277.1:p.Thr85Ile, XP_016868820.1:p.Thr85Ile, XP_024302898.1:p.Thr85Ile, XP_047277660.1:p.Thr85Ile, XP_047277658.1:p.Thr85Ile, XP_047277661.1:p.Thr85Ile, XP_047277659.1:p.Thr85Ile

    2.

    rs1474295687 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      8:125102468 (GRCh38)
      8:126114710 (GRCh37)
      Canonical SPDI:
      NC_000008.11:125102467:G:C
      Gene:
      NSMCE2 (Varview)
      Functional Consequence:
      missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000008.11:g.125102468G>C, NC_000008.10:g.126114710G>C, NG_053069.1:g.15651G>C, NM_173685.4:c.138G>C, NM_173685.3:c.138G>C, NM_173685.2:c.138G>C, NR_146191.2:n.384G>C, NR_146191.1:n.421G>C, NM_001349486.2:c.138G>C, NM_001349486.1:c.138G>C, NM_001349485.2:c.138G>C, NM_001349485.1:c.138G>C, NR_146192.2:n.384G>C, NR_146192.1:n.421G>C, NM_001349487.2:c.138G>C, NM_001349487.1:c.138G>C, XM_011516974.3:c.138G>C, XM_011516974.2:c.138G>C, XM_011516974.1:c.138G>C, XM_011516975.3:c.138G>C, XM_011516975.2:c.138G>C, XM_011516975.1:c.138G>C, XM_017013331.2:c.138G>C, XM_017013331.1:c.138G>C, XM_024447130.2:c.138G>C, XM_024447130.1:c.138G>C, XM_047421704.1:c.138G>C, XM_047421702.1:c.138G>C, XM_047421705.1:c.138G>C, XM_047421703.1:c.138G>C, NP_775956.1:p.Leu46Phe, NP_001336415.1:p.Leu46Phe, NP_001336414.1:p.Leu46Phe, NP_001336416.1:p.Leu46Phe, XP_011515276.1:p.Leu46Phe, XP_011515277.1:p.Leu46Phe, XP_016868820.1:p.Leu46Phe, XP_024302898.1:p.Leu46Phe, XP_047277660.1:p.Leu46Phe, XP_047277658.1:p.Leu46Phe, XP_047277661.1:p.Leu46Phe, XP_047277659.1:p.Leu46Phe

      3.

      rs1466906535 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        8:125182237 (GRCh38)
        8:126194479 (GRCh37)
        Canonical SPDI:
        NC_000008.11:125182236:G:A
        Gene:
        NSMCE2 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000008.11:g.125182237G>A, NC_000008.10:g.126194479G>A, NG_053069.1:g.95420G>A, NM_173685.4:c.399G>A, NM_173685.3:c.399G>A, NM_173685.2:c.399G>A, NR_146191.2:n.744G>A, NR_146191.1:n.781G>A, NM_001349486.2:c.399G>A, NM_001349486.1:c.399G>A, NM_001349485.2:c.399G>A, NM_001349485.1:c.399G>A, NR_146192.2:n.744G>A, NR_146192.1:n.781G>A, NM_001349487.2:c.399G>A, NM_001349487.1:c.399G>A, XM_017013332.3:c.405G>A, XM_017013332.2:c.405G>A, XM_017013332.1:c.405G>A, XM_017013330.3:c.405G>A, XM_017013330.2:c.405G>A, XM_017013330.1:c.405G>A, XM_011516974.3:c.399G>A, XM_011516974.2:c.399G>A, XM_011516974.1:c.399G>A, XM_011516975.3:c.399G>A, XM_011516975.2:c.399G>A, XM_011516975.1:c.399G>A, XM_017013331.2:c.399G>A, XM_017013331.1:c.399G>A, XM_024447130.2:c.399G>A, XM_024447130.1:c.399G>A, XM_047421704.1:c.399G>A, XM_047421702.1:c.399G>A, XM_047421705.1:c.399G>A, XM_047421703.1:c.399G>A

        4.

        rs1461875605 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          8:125151257 (GRCh38)
          8:126163499 (GRCh37)
          Canonical SPDI:
          NC_000008.11:125151256:G:A
          Gene:
          NSMCE2 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000008.11:g.125151257G>A, NC_000008.10:g.126163499G>A, NG_053069.1:g.64440G>A, NM_173685.4:c.244G>A, NM_173685.3:c.244G>A, NM_173685.2:c.244G>A, NR_146191.2:n.490G>A, NR_146191.1:n.527G>A, NM_001349486.2:c.244G>A, NM_001349486.1:c.244G>A, NM_001349485.2:c.244G>A, NM_001349485.1:c.244G>A, NR_146192.2:n.490G>A, NR_146192.1:n.527G>A, NM_001349487.2:c.244G>A, NM_001349487.1:c.244G>A, XM_017013332.3:c.250G>A, XM_017013332.2:c.250G>A, XM_017013332.1:c.250G>A, XM_017013330.3:c.250G>A, XM_017013330.2:c.250G>A, XM_017013330.1:c.250G>A, XM_011516974.3:c.244G>A, XM_011516974.2:c.244G>A, XM_011516974.1:c.244G>A, XM_011516975.3:c.244G>A, XM_011516975.2:c.244G>A, XM_011516975.1:c.244G>A, XM_017013331.2:c.244G>A, XM_017013331.1:c.244G>A, XM_024447130.2:c.244G>A, XM_024447130.1:c.244G>A, XM_047421704.1:c.244G>A, XM_047421702.1:c.244G>A, XM_047421705.1:c.244G>A, XM_047421703.1:c.244G>A, NP_775956.1:p.Val82Ile, NP_001336415.1:p.Val82Ile, NP_001336414.1:p.Val82Ile, NP_001336416.1:p.Val82Ile, XP_016868821.1:p.Val84Ile, XP_016868819.1:p.Val84Ile, XP_011515276.1:p.Val82Ile, XP_011515277.1:p.Val82Ile, XP_016868820.1:p.Val82Ile, XP_024302898.1:p.Val82Ile, XP_047277660.1:p.Val82Ile, XP_047277658.1:p.Val82Ile, XP_047277661.1:p.Val82Ile, XP_047277659.1:p.Val82Ile

          5.

          rs1453887022 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            8:125151194 (GRCh38)
            8:126163436 (GRCh37)
            Canonical SPDI:
            NC_000008.11:125151193:A:G
            Gene:
            NSMCE2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            G=0.000106/2 (TOMMO)
            HGVS:
            NC_000008.11:g.125151194A>G, NC_000008.10:g.126163436A>G, NG_053069.1:g.64377A>G, NM_173685.4:c.181A>G, NM_173685.3:c.181A>G, NM_173685.2:c.181A>G, NR_146191.2:n.427A>G, NR_146191.1:n.464A>G, NM_001349486.2:c.181A>G, NM_001349486.1:c.181A>G, NM_001349485.2:c.181A>G, NM_001349485.1:c.181A>G, NR_146192.2:n.427A>G, NR_146192.1:n.464A>G, NM_001349487.2:c.181A>G, NM_001349487.1:c.181A>G, XM_017013332.3:c.187A>G, XM_017013332.2:c.187A>G, XM_017013332.1:c.187A>G, XM_017013330.3:c.187A>G, XM_017013330.2:c.187A>G, XM_017013330.1:c.187A>G, XM_011516974.3:c.181A>G, XM_011516974.2:c.181A>G, XM_011516974.1:c.181A>G, XM_011516975.3:c.181A>G, XM_011516975.2:c.181A>G, XM_011516975.1:c.181A>G, XM_017013331.2:c.181A>G, XM_017013331.1:c.181A>G, XM_024447130.2:c.181A>G, XM_024447130.1:c.181A>G, XM_047421704.1:c.181A>G, XM_047421702.1:c.181A>G, XM_047421705.1:c.181A>G, XM_047421703.1:c.181A>G, NP_775956.1:p.Met61Val, NP_001336415.1:p.Met61Val, NP_001336414.1:p.Met61Val, NP_001336416.1:p.Met61Val, XP_016868821.1:p.Met63Val, XP_016868819.1:p.Met63Val, XP_011515276.1:p.Met61Val, XP_011515277.1:p.Met61Val, XP_016868820.1:p.Met61Val, XP_024302898.1:p.Met61Val, XP_047277660.1:p.Met61Val, XP_047277658.1:p.Met61Val, XP_047277661.1:p.Met61Val, XP_047277659.1:p.Met61Val

            6.

            rs1448482979 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              8:125182180 (GRCh38)
              8:126194422 (GRCh37)
              Canonical SPDI:
              NC_000008.11:125182179:G:C
              Gene:
              NSMCE2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.125182180G>C, NC_000008.10:g.126194422G>C, NG_053069.1:g.95363G>C, NM_173685.4:c.342G>C, NM_173685.3:c.342G>C, NM_173685.2:c.342G>C, NR_146191.2:n.687G>C, NR_146191.1:n.724G>C, NM_001349486.2:c.342G>C, NM_001349486.1:c.342G>C, NM_001349485.2:c.342G>C, NM_001349485.1:c.342G>C, NR_146192.2:n.687G>C, NR_146192.1:n.724G>C, NM_001349487.2:c.342G>C, NM_001349487.1:c.342G>C, XM_017013332.3:c.348G>C, XM_017013332.2:c.348G>C, XM_017013332.1:c.348G>C, XM_017013330.3:c.348G>C, XM_017013330.2:c.348G>C, XM_017013330.1:c.348G>C, XM_011516974.3:c.342G>C, XM_011516974.2:c.342G>C, XM_011516974.1:c.342G>C, XM_011516975.3:c.342G>C, XM_011516975.2:c.342G>C, XM_011516975.1:c.342G>C, XM_017013331.2:c.342G>C, XM_017013331.1:c.342G>C, XM_024447130.2:c.342G>C, XM_024447130.1:c.342G>C, XM_047421704.1:c.342G>C, XM_047421702.1:c.342G>C, XM_047421705.1:c.342G>C, XM_047421703.1:c.342G>C, NP_775956.1:p.Lys114Asn, NP_001336415.1:p.Lys114Asn, NP_001336414.1:p.Lys114Asn, NP_001336416.1:p.Lys114Asn, XP_016868821.1:p.Lys116Asn, XP_016868819.1:p.Lys116Asn, XP_011515276.1:p.Lys114Asn, XP_011515277.1:p.Lys114Asn, XP_016868820.1:p.Lys114Asn, XP_024302898.1:p.Lys114Asn, XP_047277660.1:p.Lys114Asn, XP_047277658.1:p.Lys114Asn, XP_047277661.1:p.Lys114Asn, XP_047277659.1:p.Lys114Asn

              7.

              rs1448370630 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                8:125366807 (GRCh38)
                8:126379049 (GRCh37)
                Canonical SPDI:
                NC_000008.11:125366806:G:T
                Gene:
                NSMCE2 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000008.11:g.125366807G>T, NC_000008.10:g.126379049G>T, NG_053069.1:g.279990G>T, NM_173685.4:c.666G>T, NM_173685.3:c.666G>T, NM_173685.2:c.666G>T, NR_146191.2:n.1011G>T, NR_146191.1:n.1048G>T, NM_001349486.2:c.666G>T, NM_001349486.1:c.666G>T, NM_001349485.2:c.666G>T, NM_001349485.1:c.666G>T, XM_017013330.3:c.672G>T, XM_017013330.2:c.672G>T, XM_017013330.1:c.672G>T, XM_011516974.3:c.666G>T, XM_011516974.2:c.666G>T, XM_011516974.1:c.666G>T, XM_011516975.3:c.666G>T, XM_011516975.2:c.666G>T, XM_011516975.1:c.666G>T, XM_017013331.2:c.666G>T, XM_017013331.1:c.666G>T, XM_024447130.2:c.666G>T, XM_024447130.1:c.666G>T, XM_047421702.1:c.666G>T, XM_047421705.1:c.666G>T, XM_047421703.1:c.666G>T, NP_775956.1:p.Lys222Asn, NP_001336415.1:p.Lys222Asn, NP_001336414.1:p.Lys222Asn, XP_016868819.1:p.Lys224Asn, XP_011515276.1:p.Lys222Asn, XP_011515277.1:p.Lys222Asn, XP_016868820.1:p.Lys222Asn, XP_024302898.1:p.Lys222Asn, XP_047277658.1:p.Lys222Asn, XP_047277661.1:p.Lys222Asn, XP_047277659.1:p.Lys222Asn

                8.

                rs1446832548 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  8:125102385 (GRCh38)
                  8:126114627 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:125102384:G:T
                  Gene:
                  NSMCE2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000008.11:g.125102385G>T, NC_000008.10:g.126114627G>T, NG_053069.1:g.15568G>T, NM_173685.4:c.55G>T, NM_173685.3:c.55G>T, NM_173685.2:c.55G>T, NR_146191.2:n.301G>T, NR_146191.1:n.338G>T, NM_001349486.2:c.55G>T, NM_001349486.1:c.55G>T, NM_001349485.2:c.55G>T, NM_001349485.1:c.55G>T, NR_146192.2:n.301G>T, NR_146192.1:n.338G>T, NM_001349487.2:c.55G>T, NM_001349487.1:c.55G>T, XM_011516974.3:c.55G>T, XM_011516974.2:c.55G>T, XM_011516974.1:c.55G>T, XM_011516975.3:c.55G>T, XM_011516975.2:c.55G>T, XM_011516975.1:c.55G>T, XM_017013331.2:c.55G>T, XM_017013331.1:c.55G>T, XM_024447130.2:c.55G>T, XM_024447130.1:c.55G>T, XM_047421704.1:c.55G>T, XM_047421702.1:c.55G>T, XM_047421705.1:c.55G>T, XM_047421703.1:c.55G>T, NP_775956.1:p.Gly19Cys, NP_001336415.1:p.Gly19Cys, NP_001336414.1:p.Gly19Cys, NP_001336416.1:p.Gly19Cys, XP_011515276.1:p.Gly19Cys, XP_011515277.1:p.Gly19Cys, XP_016868820.1:p.Gly19Cys, XP_024302898.1:p.Gly19Cys, XP_047277660.1:p.Gly19Cys, XP_047277658.1:p.Gly19Cys, XP_047277661.1:p.Gly19Cys, XP_047277659.1:p.Gly19Cys

                  9.

                  rs1446283616 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    8:125357757 (GRCh38)
                    8:126369999 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:125357756:T:A
                    Gene:
                    NSMCE2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000008.11:g.125357757T>A, NC_000008.10:g.126369999T>A, NG_053069.1:g.270940T>A, NM_173685.4:c.565T>A, NM_173685.3:c.565T>A, NM_173685.2:c.565T>A, NR_146191.2:n.910T>A, NR_146191.1:n.947T>A, NM_001349486.2:c.565T>A, NM_001349486.1:c.565T>A, NM_001349485.2:c.565T>A, NM_001349485.1:c.565T>A, XM_017013332.3:c.571T>A, XM_017013332.2:c.571T>A, XM_017013332.1:c.571T>A, XM_017013330.3:c.571T>A, XM_017013330.2:c.571T>A, XM_017013330.1:c.571T>A, XM_011516974.3:c.565T>A, XM_011516974.2:c.565T>A, XM_011516974.1:c.565T>A, XM_011516975.3:c.565T>A, XM_011516975.2:c.565T>A, XM_011516975.1:c.565T>A, XM_017013331.2:c.565T>A, XM_017013331.1:c.565T>A, XM_024447130.2:c.565T>A, XM_024447130.1:c.565T>A, XM_047421704.1:c.565T>A, XM_047421702.1:c.565T>A, XM_047421705.1:c.565T>A, XM_047421703.1:c.565T>A, NP_775956.1:p.Tyr189Asn, NP_001336415.1:p.Tyr189Asn, NP_001336414.1:p.Tyr189Asn, XP_016868821.1:p.Tyr191Asn, XP_016868819.1:p.Tyr191Asn, XP_011515276.1:p.Tyr189Asn, XP_011515277.1:p.Tyr189Asn, XP_016868820.1:p.Tyr189Asn, XP_024302898.1:p.Tyr189Asn, XP_047277660.1:p.Tyr189Asn, XP_047277658.1:p.Tyr189Asn, XP_047277661.1:p.Tyr189Asn, XP_047277659.1:p.Tyr189Asn

                    10.

                    rs1440695537 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      8:125366820 (GRCh38)
                      8:126379062 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:125366819:C:A
                      Gene:
                      NSMCE2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000008.11:g.125366820C>A, NC_000008.10:g.126379062C>A, NG_053069.1:g.280003C>A, NM_173685.4:c.679C>A, NM_173685.3:c.679C>A, NM_173685.2:c.679C>A, NR_146191.2:n.1024C>A, NR_146191.1:n.1061C>A, NM_001349486.2:c.679C>A, NM_001349486.1:c.679C>A, NM_001349485.2:c.679C>A, NM_001349485.1:c.679C>A, XM_017013330.3:c.685C>A, XM_017013330.2:c.685C>A, XM_017013330.1:c.685C>A, XM_011516974.3:c.679C>A, XM_011516974.2:c.679C>A, XM_011516974.1:c.679C>A, XM_011516975.3:c.679C>A, XM_011516975.2:c.679C>A, XM_011516975.1:c.679C>A, XM_017013331.2:c.679C>A, XM_017013331.1:c.679C>A, XM_024447130.2:c.679C>A, XM_024447130.1:c.679C>A, XM_047421702.1:c.679C>A, XM_047421705.1:c.679C>A, XM_047421703.1:c.679C>A, NP_775956.1:p.Gln227Lys, NP_001336415.1:p.Gln227Lys, NP_001336414.1:p.Gln227Lys, XP_016868819.1:p.Gln229Lys, XP_011515276.1:p.Gln227Lys, XP_011515277.1:p.Gln227Lys, XP_016868820.1:p.Gln227Lys, XP_024302898.1:p.Gln227Lys, XP_047277658.1:p.Gln227Lys, XP_047277661.1:p.Gln227Lys, XP_047277659.1:p.Gln227Lys

                      11.

                      rs1440497989 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->A [Show Flanks]
                        Chromosome:
                        8:125182121 (GRCh38)
                        8:126194364 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:125182121:AAAAAA:AAAAAAA
                        Gene:
                        NSMCE2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAA=0.000071/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000008.11:g.125182127dup, NC_000008.10:g.126194369dup, NG_053069.1:g.95310dup, NM_173685.4:c.289dup, NM_173685.3:c.289dup, NM_173685.2:c.289dup, NR_146191.2:n.634dup, NR_146191.1:n.671dup, NM_001349486.2:c.289dup, NM_001349486.1:c.289dup, NM_001349485.2:c.289dup, NM_001349485.1:c.289dup, NR_146192.2:n.634dup, NR_146192.1:n.671dup, NM_001349487.2:c.289dup, NM_001349487.1:c.289dup, XM_017013332.3:c.295dup, XM_017013332.2:c.295dup, XM_017013332.1:c.295dup, XM_017013330.3:c.295dup, XM_017013330.2:c.295dup, XM_017013330.1:c.295dup, XM_011516974.3:c.289dup, XM_011516974.2:c.289dup, XM_011516974.1:c.289dup, XM_011516975.3:c.289dup, XM_011516975.2:c.289dup, XM_011516975.1:c.289dup, XM_017013331.2:c.289dup, XM_017013331.1:c.289dup, XM_024447130.2:c.289dup, XM_024447130.1:c.289dup, XM_047421704.1:c.289dup, XM_047421702.1:c.289dup, XM_047421705.1:c.289dup, XM_047421703.1:c.289dup, NP_775956.1:p.Ile97fs, NP_001336415.1:p.Ile97fs, NP_001336414.1:p.Ile97fs, NP_001336416.1:p.Ile97fs, XP_016868821.1:p.Ile99fs, XP_016868819.1:p.Ile99fs, XP_011515276.1:p.Ile97fs, XP_011515277.1:p.Ile97fs, XP_016868820.1:p.Ile97fs, XP_024302898.1:p.Ile97fs, XP_047277660.1:p.Ile97fs, XP_047277658.1:p.Ile97fs, XP_047277661.1:p.Ile97fs, XP_047277659.1:p.Ile97fs

                        12.

                        rs1436463723 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          8:125366789 (GRCh38)
                          8:126379031 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:125366788:C:T
                          Gene:
                          NSMCE2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000011/3 (TOPMED)
                          T=0.000021/3 (GnomAD)
                          HGVS:

                          13.

                          rs1431622277 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:125357233 (GRCh38)
                            8:126369475 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:125357232:G:A
                            Gene:
                            NSMCE2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000008.11:g.125357233G>A, NC_000008.10:g.126369475G>A, NG_053069.1:g.270416G>A, NM_173685.4:c.433G>A, NM_173685.3:c.433G>A, NM_173685.2:c.433G>A, NR_146191.2:n.778G>A, NR_146191.1:n.815G>A, NM_001349486.2:c.433G>A, NM_001349486.1:c.433G>A, NM_001349485.2:c.433G>A, NM_001349485.1:c.433G>A, XM_017013332.3:c.439G>A, XM_017013332.2:c.439G>A, XM_017013332.1:c.439G>A, XM_017013330.3:c.439G>A, XM_017013330.2:c.439G>A, XM_017013330.1:c.439G>A, XM_011516974.3:c.433G>A, XM_011516974.2:c.433G>A, XM_011516974.1:c.433G>A, XM_011516975.3:c.433G>A, XM_011516975.2:c.433G>A, XM_011516975.1:c.433G>A, XM_017013331.2:c.433G>A, XM_017013331.1:c.433G>A, XM_024447130.2:c.433G>A, XM_024447130.1:c.433G>A, XM_047421704.1:c.433G>A, XM_047421702.1:c.433G>A, XM_047421705.1:c.433G>A, XM_047421703.1:c.433G>A, NP_775956.1:p.Asp145Asn, NP_001336415.1:p.Asp145Asn, NP_001336414.1:p.Asp145Asn, XP_016868821.1:p.Asp147Asn, XP_016868819.1:p.Asp147Asn, XP_011515276.1:p.Asp145Asn, XP_011515277.1:p.Asp145Asn, XP_016868820.1:p.Asp145Asn, XP_024302898.1:p.Asp145Asn, XP_047277660.1:p.Asp145Asn, XP_047277658.1:p.Asp145Asn, XP_047277661.1:p.Asp145Asn, XP_047277659.1:p.Asp145Asn

                            14.

                            rs1429881192 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              8:125102439 (GRCh38)
                              8:126114681 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:125102438:G:A,NC_000008.11:125102438:G:T
                              Gene:
                              NSMCE2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000008.11:g.125102439G>A, NC_000008.11:g.125102439G>T, NC_000008.10:g.126114681G>A, NC_000008.10:g.126114681G>T, NG_053069.1:g.15622G>A, NG_053069.1:g.15622G>T, NM_173685.4:c.109G>A, NM_173685.4:c.109G>T, NM_173685.3:c.109G>A, NM_173685.3:c.109G>T, NM_173685.2:c.109G>A, NM_173685.2:c.109G>T, NR_146191.2:n.355G>A, NR_146191.2:n.355G>T, NR_146191.1:n.392G>A, NR_146191.1:n.392G>T, NM_001349486.2:c.109G>A, NM_001349486.2:c.109G>T, NM_001349486.1:c.109G>A, NM_001349486.1:c.109G>T, NM_001349485.2:c.109G>A, NM_001349485.2:c.109G>T, NM_001349485.1:c.109G>A, NM_001349485.1:c.109G>T, NR_146192.2:n.355G>A, NR_146192.2:n.355G>T, NR_146192.1:n.392G>A, NR_146192.1:n.392G>T, NM_001349487.2:c.109G>A, NM_001349487.2:c.109G>T, NM_001349487.1:c.109G>A, NM_001349487.1:c.109G>T, XM_011516974.3:c.109G>A, XM_011516974.3:c.109G>T, XM_011516974.2:c.109G>A, XM_011516974.2:c.109G>T, XM_011516974.1:c.109G>A, XM_011516974.1:c.109G>T, XM_011516975.3:c.109G>A, XM_011516975.3:c.109G>T, XM_011516975.2:c.109G>A, XM_011516975.2:c.109G>T, XM_011516975.1:c.109G>A, XM_011516975.1:c.109G>T, XM_017013331.2:c.109G>A, XM_017013331.2:c.109G>T, XM_017013331.1:c.109G>A, XM_017013331.1:c.109G>T, XM_024447130.2:c.109G>A, XM_024447130.2:c.109G>T, XM_024447130.1:c.109G>A, XM_024447130.1:c.109G>T, XM_047421704.1:c.109G>A, XM_047421704.1:c.109G>T, XM_047421702.1:c.109G>A, XM_047421702.1:c.109G>T, XM_047421705.1:c.109G>A, XM_047421705.1:c.109G>T, XM_047421703.1:c.109G>A, XM_047421703.1:c.109G>T, NP_775956.1:p.Gly37Ser, NP_775956.1:p.Gly37Cys, NP_001336415.1:p.Gly37Ser, NP_001336415.1:p.Gly37Cys, NP_001336414.1:p.Gly37Ser, NP_001336414.1:p.Gly37Cys, NP_001336416.1:p.Gly37Ser, NP_001336416.1:p.Gly37Cys, XP_011515276.1:p.Gly37Ser, XP_011515276.1:p.Gly37Cys, XP_011515277.1:p.Gly37Ser, XP_011515277.1:p.Gly37Cys, XP_016868820.1:p.Gly37Ser, XP_016868820.1:p.Gly37Cys, XP_024302898.1:p.Gly37Ser, XP_024302898.1:p.Gly37Cys, XP_047277660.1:p.Gly37Ser, XP_047277660.1:p.Gly37Cys, XP_047277658.1:p.Gly37Ser, XP_047277658.1:p.Gly37Cys, XP_047277661.1:p.Gly37Ser, XP_047277661.1:p.Gly37Cys, XP_047277659.1:p.Gly37Ser, XP_047277659.1:p.Gly37Cys

                              15.

                              rs1427784743 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                8:125102408 (GRCh38)
                                8:126114650 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:125102407:C:A
                                Gene:
                                NSMCE2 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1427774102 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:125357309 (GRCh38)
                                  8:126369551 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:125357308:C:T
                                  Gene:
                                  NSMCE2 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.125357309C>T, NC_000008.10:g.126369551C>T, NG_053069.1:g.270492C>T, NM_173685.4:c.509C>T, NM_173685.3:c.509C>T, NM_173685.2:c.509C>T, NR_146191.2:n.854C>T, NR_146191.1:n.891C>T, NM_001349486.2:c.509C>T, NM_001349486.1:c.509C>T, NM_001349485.2:c.509C>T, NM_001349485.1:c.509C>T, XM_017013332.3:c.515C>T, XM_017013332.2:c.515C>T, XM_017013332.1:c.515C>T, XM_017013330.3:c.515C>T, XM_017013330.2:c.515C>T, XM_017013330.1:c.515C>T, XM_011516974.3:c.509C>T, XM_011516974.2:c.509C>T, XM_011516974.1:c.509C>T, XM_011516975.3:c.509C>T, XM_011516975.2:c.509C>T, XM_011516975.1:c.509C>T, XM_017013331.2:c.509C>T, XM_017013331.1:c.509C>T, XM_024447130.2:c.509C>T, XM_024447130.1:c.509C>T, XM_047421704.1:c.509C>T, XM_047421702.1:c.509C>T, XM_047421705.1:c.509C>T, XM_047421703.1:c.509C>T, NP_775956.1:p.Pro170Leu, NP_001336415.1:p.Pro170Leu, NP_001336414.1:p.Pro170Leu, XP_016868821.1:p.Pro172Leu, XP_016868819.1:p.Pro172Leu, XP_011515276.1:p.Pro170Leu, XP_011515277.1:p.Pro170Leu, XP_016868820.1:p.Pro170Leu, XP_024302898.1:p.Pro170Leu, XP_047277660.1:p.Pro170Leu, XP_047277658.1:p.Pro170Leu, XP_047277661.1:p.Pro170Leu, XP_047277659.1:p.Pro170Leu

                                  17.

                                  rs1423988565 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    8:125182142 (GRCh38)
                                    8:126194384 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:125182141:T:G
                                    Gene:
                                    NSMCE2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000008.11:g.125182142T>G, NC_000008.10:g.126194384T>G, NG_053069.1:g.95325T>G, NM_173685.4:c.304T>G, NM_173685.3:c.304T>G, NM_173685.2:c.304T>G, NR_146191.2:n.649T>G, NR_146191.1:n.686T>G, NM_001349486.2:c.304T>G, NM_001349486.1:c.304T>G, NM_001349485.2:c.304T>G, NM_001349485.1:c.304T>G, NR_146192.2:n.649T>G, NR_146192.1:n.686T>G, NM_001349487.2:c.304T>G, NM_001349487.1:c.304T>G, XM_017013332.3:c.310T>G, XM_017013332.2:c.310T>G, XM_017013332.1:c.310T>G, XM_017013330.3:c.310T>G, XM_017013330.2:c.310T>G, XM_017013330.1:c.310T>G, XM_011516974.3:c.304T>G, XM_011516974.2:c.304T>G, XM_011516974.1:c.304T>G, XM_011516975.3:c.304T>G, XM_011516975.2:c.304T>G, XM_011516975.1:c.304T>G, XM_017013331.2:c.304T>G, XM_017013331.1:c.304T>G, XM_024447130.2:c.304T>G, XM_024447130.1:c.304T>G, XM_047421704.1:c.304T>G, XM_047421702.1:c.304T>G, XM_047421705.1:c.304T>G, XM_047421703.1:c.304T>G, NP_775956.1:p.Leu102Val, NP_001336415.1:p.Leu102Val, NP_001336414.1:p.Leu102Val, NP_001336416.1:p.Leu102Val, XP_016868821.1:p.Leu104Val, XP_016868819.1:p.Leu104Val, XP_011515276.1:p.Leu102Val, XP_011515277.1:p.Leu102Val, XP_016868820.1:p.Leu102Val, XP_024302898.1:p.Leu102Val, XP_047277660.1:p.Leu102Val, XP_047277658.1:p.Leu102Val, XP_047277661.1:p.Leu102Val, XP_047277659.1:p.Leu102Val

                                    18.

                                    rs1411125023 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      8:125151212 (GRCh38)
                                      8:126163454 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:125151211:G:C
                                      Gene:
                                      NSMCE2 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000008.11:g.125151212G>C, NC_000008.10:g.126163454G>C, NG_053069.1:g.64395G>C, NM_173685.4:c.199G>C, NM_173685.3:c.199G>C, NM_173685.2:c.199G>C, NR_146191.2:n.445G>C, NR_146191.1:n.482G>C, NM_001349486.2:c.199G>C, NM_001349486.1:c.199G>C, NM_001349485.2:c.199G>C, NM_001349485.1:c.199G>C, NR_146192.2:n.445G>C, NR_146192.1:n.482G>C, NM_001349487.2:c.199G>C, NM_001349487.1:c.199G>C, XM_017013332.3:c.205G>C, XM_017013332.2:c.205G>C, XM_017013332.1:c.205G>C, XM_017013330.3:c.205G>C, XM_017013330.2:c.205G>C, XM_017013330.1:c.205G>C, XM_011516974.3:c.199G>C, XM_011516974.2:c.199G>C, XM_011516974.1:c.199G>C, XM_011516975.3:c.199G>C, XM_011516975.2:c.199G>C, XM_011516975.1:c.199G>C, XM_017013331.2:c.199G>C, XM_017013331.1:c.199G>C, XM_024447130.2:c.199G>C, XM_024447130.1:c.199G>C, XM_047421704.1:c.199G>C, XM_047421702.1:c.199G>C, XM_047421705.1:c.199G>C, XM_047421703.1:c.199G>C, NP_775956.1:p.Glu67Gln, NP_001336415.1:p.Glu67Gln, NP_001336414.1:p.Glu67Gln, NP_001336416.1:p.Glu67Gln, XP_016868821.1:p.Glu69Gln, XP_016868819.1:p.Glu69Gln, XP_011515276.1:p.Glu67Gln, XP_011515277.1:p.Glu67Gln, XP_016868820.1:p.Glu67Gln, XP_024302898.1:p.Glu67Gln, XP_047277660.1:p.Glu67Gln, XP_047277658.1:p.Glu67Gln, XP_047277661.1:p.Glu67Gln, XP_047277659.1:p.Glu67Gln

                                      19.

                                      rs1407864156 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        8:125102366 (GRCh38)
                                        8:126114608 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:125102365:T:C
                                        Gene:
                                        NSMCE2 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000043/1 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1405750171 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          8:125182124 (GRCh38)
                                          8:126194366 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:125182123:A:G
                                          Gene:
                                          NSMCE2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,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_000008.11:g.125182124A>G, NC_000008.10:g.126194366A>G, NG_053069.1:g.95307A>G, NM_173685.4:c.286A>G, NM_173685.3:c.286A>G, NM_173685.2:c.286A>G, NR_146191.2:n.631A>G, NR_146191.1:n.668A>G, NM_001349486.2:c.286A>G, NM_001349486.1:c.286A>G, NM_001349485.2:c.286A>G, NM_001349485.1:c.286A>G, NR_146192.2:n.631A>G, NR_146192.1:n.668A>G, NM_001349487.2:c.286A>G, NM_001349487.1:c.286A>G, XM_017013332.3:c.292A>G, XM_017013332.2:c.292A>G, XM_017013332.1:c.292A>G, XM_017013330.3:c.292A>G, XM_017013330.2:c.292A>G, XM_017013330.1:c.292A>G, XM_011516974.3:c.286A>G, XM_011516974.2:c.286A>G, XM_011516974.1:c.286A>G, XM_011516975.3:c.286A>G, XM_011516975.2:c.286A>G, XM_011516975.1:c.286A>G, XM_017013331.2:c.286A>G, XM_017013331.1:c.286A>G, XM_024447130.2:c.286A>G, XM_024447130.1:c.286A>G, XM_047421704.1:c.286A>G, XM_047421702.1:c.286A>G, XM_047421705.1:c.286A>G, XM_047421703.1:c.286A>G, NP_775956.1:p.Lys96Glu, NP_001336415.1:p.Lys96Glu, NP_001336414.1:p.Lys96Glu, NP_001336416.1:p.Lys96Glu, XP_016868821.1:p.Lys98Glu, XP_016868819.1:p.Lys98Glu, XP_011515276.1:p.Lys96Glu, XP_011515277.1:p.Lys96Glu, XP_016868820.1:p.Lys96Glu, XP_024302898.1:p.Lys96Glu, XP_047277660.1:p.Lys96Glu, XP_047277658.1:p.Lys96Glu, XP_047277661.1:p.Lys96Glu, XP_047277659.1:p.Lys96Glu

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