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 474

1.

rs1486257928 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    3:12505217 (GRCh38)
    3:12546716 (GRCh37)
    Canonical SPDI:
    NC_000003.12:12505216:C:G,NC_000003.12:12505216:C:T
    Gene:
    TSEN2 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000014/2 (GnomAD)
    HGVS:
    NC_000003.12:g.12505217C>G, NC_000003.12:g.12505217C>T, NC_000003.11:g.12546716C>G, NC_000003.11:g.12546716C>T, NG_011521.2:g.25786C>G, NG_011521.2:g.25786C>T, NM_025265.4:c.895C>G, NM_025265.4:c.895C>T, NM_025265.3:c.895C>G, NM_025265.3:c.895C>T, NM_001145392.2:c.895C>G, NM_001145392.2:c.895C>T, NM_001145392.1:c.895C>G, NM_001145392.1:c.895C>T, NM_001321277.2:c.895C>G, NM_001321277.2:c.895C>T, NM_001321277.1:c.895C>G, NM_001321277.1:c.895C>T, NM_001145394.2:c.718C>G, NM_001145394.2:c.718C>T, NM_001145394.1:c.718C>G, NM_001145394.1:c.718C>T, NR_135607.2:n.950C>G, NR_135607.2:n.950C>T, NR_135607.1:n.998C>G, NR_135607.1:n.998C>T, NM_001321278.2:c.895C>G, NM_001321278.2:c.895C>T, NM_001321278.1:c.895C>G, NM_001321278.1:c.895C>T, XM_011534139.4:c.622C>G, XM_011534139.4:c.622C>T, XM_011534139.3:c.622C>G, XM_011534139.3:c.622C>T, XM_011534139.2:c.622C>G, XM_011534139.2:c.622C>T, XM_011534139.1:c.622C>G, XM_011534139.1:c.622C>T, XM_017007296.3:c.895C>G, XM_017007296.3:c.895C>T, XM_017007296.2:c.895C>G, XM_017007296.2:c.895C>T, XM_017007296.1:c.895C>G, XM_017007296.1:c.895C>T, XM_017007295.3:c.952C>G, XM_017007295.3:c.952C>T, XM_017007295.2:c.952C>G, XM_017007295.2:c.952C>T, XM_017007295.1:c.952C>G, XM_017007295.1:c.952C>T, XR_001740289.3:n.1313C>G, XR_001740289.3:n.1313C>T, XR_001740289.2:n.1282C>G, XR_001740289.2:n.1282C>T, XR_001740289.1:n.1282C>G, XR_001740289.1:n.1282C>T, XM_017007293.2:c.952C>G, XM_017007293.2:c.952C>T, XM_017007293.1:c.952C>G, XM_017007293.1:c.952C>T, XM_017007294.2:c.952C>G, XM_017007294.2:c.952C>T, XM_017007294.1:c.952C>G, XM_017007294.1:c.952C>T, XM_017007292.2:c.952C>G, XM_017007292.2:c.952C>T, XM_017007292.1:c.952C>G, XM_017007292.1:c.952C>T, XR_002959592.2:n.1118C>G, XR_002959592.2:n.1118C>T, XR_002959592.1:n.1073C>G, XR_002959592.1:n.1073C>T, XR_002959593.2:n.1061C>G, XR_002959593.2:n.1061C>T, XR_002959593.1:n.1030C>G, XR_002959593.1:n.1030C>T, XM_047449029.1:c.895C>G, XM_047449029.1:c.895C>T, XR_007095741.1:n.1624C>G, XR_007095741.1:n.1624C>T, XR_007095739.1:n.1313C>G, XR_007095739.1:n.1313C>T, XR_007095740.1:n.1624C>G, XR_007095740.1:n.1624C>T, XR_007095737.1:n.1007C>G, XR_007095737.1:n.1007C>T, XR_007095738.1:n.950C>G, XR_007095738.1:n.950C>T, XR_007095736.1:n.1007C>G, XR_007095736.1:n.1007C>T, XM_047449031.1:c.952C>G, XM_047449031.1:c.952C>T, XM_047449033.1:c.895C>G, XM_047449033.1:c.895C>T, XR_007095750.1:n.1313C>G, XR_007095750.1:n.1313C>T, XR_007095744.1:n.1007C>G, XR_007095744.1:n.1007C>T, XR_007095745.1:n.950C>G, XR_007095745.1:n.950C>T, XR_007095747.1:n.1007C>G, XR_007095747.1:n.1007C>T, XR_007095748.1:n.1007C>G, XR_007095748.1:n.1007C>T, XR_007095749.1:n.950C>G, XR_007095749.1:n.950C>T, XR_007095751.1:n.950C>G, XR_007095751.1:n.950C>T, NP_079541.1:p.Leu299Val, NP_079541.1:p.Leu299Phe, NP_001138864.1:p.Leu299Val, NP_001138864.1:p.Leu299Phe, NP_001308206.1:p.Leu299Val, NP_001308206.1:p.Leu299Phe, NP_001138866.1:p.Leu240Val, NP_001138866.1:p.Leu240Phe, NP_001308207.1:p.Leu299Val, NP_001308207.1:p.Leu299Phe, XP_011532441.1:p.Leu208Val, XP_011532441.1:p.Leu208Phe, XP_016862785.1:p.Leu299Val, XP_016862785.1:p.Leu299Phe, XP_016862784.1:p.Leu318Val, XP_016862784.1:p.Leu318Phe, XP_016862782.1:p.Leu318Val, XP_016862782.1:p.Leu318Phe, XP_016862783.1:p.Leu318Val, XP_016862783.1:p.Leu318Phe, XP_016862781.1:p.Leu318Val, XP_016862781.1:p.Leu318Phe, XP_047304985.1:p.Leu299Val, XP_047304985.1:p.Leu299Phe, XP_047304987.1:p.Leu318Val, XP_047304987.1:p.Leu318Phe, XP_047304989.1:p.Leu299Val, XP_047304989.1:p.Leu299Phe

    2.

    rs1485398772 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:12531604 (GRCh38)
      3:12573103 (GRCh37)
      Canonical SPDI:
      NC_000003.12:12531603:C:T
      Gene:
      TSEN2 (Varview)
      Functional Consequence:
      coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000087/2 (ALFA)
      T=0.00002/5 (GnomAD_exomes)
      T=0.000023/6 (TOPMED)
      HGVS:
      NC_000003.12:g.12531604C>T, NC_000003.11:g.12573103C>T, NG_011521.2:g.52173C>T, NM_025265.4:c.1283C>T, NM_025265.3:c.1283C>T, NM_001145393.3:c.1205C>T, NM_001145393.2:c.1205C>T, NM_001145393.1:c.1205C>T, NM_001321279.2:c.1205C>T, NM_001321279.1:c.1205C>T, NM_001145392.2:c.1283C>T, NM_001145392.1:c.1283C>T, NM_001321277.2:c.1283C>T, NM_001321277.1:c.1283C>T, NM_001145394.2:c.1106C>T, NM_001145394.1:c.1106C>T, NR_135607.2:n.1338C>T, NR_135607.1:n.1386C>T, NM_001321278.2:c.1283C>T, NM_001321278.1:c.1283C>T, XM_011534139.4:c.1010C>T, XM_011534139.3:c.1010C>T, XM_011534139.2:c.1010C>T, XM_011534139.1:c.1010C>T, XM_017007296.3:c.1283C>T, XM_017007296.2:c.1283C>T, XM_017007296.1:c.1283C>T, XM_017007295.3:c.1340C>T, XM_017007295.2:c.1340C>T, XM_017007295.1:c.1340C>T, XR_001740289.3:n.1701C>T, XR_001740289.2:n.1670C>T, XR_001740289.1:n.1670C>T, XR_001740290.3:n.1260C>T, XR_001740290.2:n.1284C>T, XR_001740290.1:n.1308C>T, XM_017007293.2:c.1340C>T, XM_017007293.1:c.1340C>T, XM_017007294.2:c.1340C>T, XM_017007294.1:c.1340C>T, XM_017007292.2:c.1340C>T, XM_017007292.1:c.1340C>T, XM_024453785.2:c.1205C>T, XM_024453785.1:c.1205C>T, XR_001740291.2:n.1623C>T, XR_001740291.1:n.1592C>T, XR_002959592.2:n.1506C>T, XR_002959592.1:n.1461C>T, XR_002959593.2:n.1449C>T, XR_002959593.1:n.1418C>T, XM_047449029.1:c.1283C>T, XR_007095741.1:n.2012C>T, XM_047449032.1:c.1205C>T, XR_007095739.1:n.1701C>T, XR_007095740.1:n.2012C>T, XR_007095737.1:n.1395C>T, XM_047449030.1:c.1262C>T, XR_007095738.1:n.1338C>T, XR_007095743.1:n.1260C>T, XR_007095736.1:n.1395C>T, XR_007095742.1:n.1317C>T, XR_007095750.1:n.1511C>T, XR_007095744.1:n.1358C>T, XR_007095745.1:n.1301C>T, XR_007095746.1:n.1223C>T, XR_007095747.1:n.1205C>T, XR_007095749.1:n.1148C>T, NP_079541.1:p.Thr428Ile, NP_001138865.1:p.Thr402Ile, NP_001308208.1:p.Thr402Ile, NP_001138864.1:p.Thr428Ile, NP_001308206.1:p.Thr428Ile, NP_001138866.1:p.Thr369Ile, NP_001308207.1:p.Thr428Ile, XP_011532441.1:p.Thr337Ile, XP_016862785.1:p.Thr428Ile, XP_016862784.1:p.Thr447Ile, XP_016862782.1:p.Thr447Ile, XP_016862783.1:p.Thr447Ile, XP_016862781.1:p.Thr447Ile, XP_024309553.1:p.Thr402Ile, XP_047304985.1:p.Thr428Ile, XP_047304988.1:p.Thr402Ile, XP_047304986.1:p.Thr421Ile

      3.

      rs1484235209 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        A>- [Show Flanks]
        Chromosome:
        3:12496518 (GRCh38)
        3:12538017 (GRCh37)
        Canonical SPDI:
        NC_000003.12:12496517:A:
        Gene:
        TSEN2 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000011/3 (TOPMED)
        HGVS:
        NC_000003.12:g.12496518del, NC_000003.11:g.12538017del, NG_011521.2:g.17087del, NM_025265.4:c.272del, NM_025265.3:c.272del, NM_001145393.3:c.272del, NM_001145393.2:c.272del, NM_001145393.1:c.272del, NM_001321279.2:c.272del, NM_001321279.1:c.272del, NM_001145392.2:c.272del, NM_001145392.1:c.272del, NM_001321277.2:c.272del, NM_001321277.1:c.272del, NM_001145394.2:c.272del, NM_001145394.1:c.272del, NR_135607.2:n.327del, NR_135607.1:n.375del, NM_001321278.2:c.272del, NM_001321278.1:c.272del, XM_011534139.4:c.-2del, XM_011534139.3:c.-2del, XM_011534139.2:c.-2del, XM_011534139.1:c.-2del, XM_017007296.3:c.272del, XM_017007296.2:c.272del, XM_017007296.1:c.272del, XM_017007295.3:c.272del, XM_017007295.2:c.272del, XM_017007295.1:c.272del, XR_001740289.3:n.690del, XR_001740289.2:n.659del, XR_001740289.1:n.659del, XR_001740290.3:n.327del, XR_001740290.2:n.351del, XR_001740290.1:n.375del, XM_017007293.2:c.272del, XM_017007293.1:c.272del, XM_017007294.2:c.272del, XM_017007294.1:c.272del, XM_017007292.2:c.272del, XM_017007292.1:c.272del, XM_024453785.2:c.272del, XM_024453785.1:c.272del, XR_001740291.2:n.690del, XR_001740291.1:n.659del, XR_002959592.2:n.438del, XR_002959592.1:n.393del, XR_002959593.2:n.438del, XR_002959593.1:n.407del, XM_047449029.1:c.272del, XR_007095741.1:n.1001del, XM_047449032.1:c.272del, NM_001145395.1:c.272del, XR_007095739.1:n.690del, XR_007095740.1:n.1001del, XR_007095737.1:n.327del, XM_047449030.1:c.272del, XR_007095738.1:n.327del, XR_007095743.1:n.327del, XR_007095736.1:n.327del, XR_007095742.1:n.327del, XM_047449031.1:c.272del, XM_047449033.1:c.272del, XR_007095750.1:n.690del, XM_047449034.1:c.272del, XR_007095744.1:n.327del, XR_007095745.1:n.327del, XR_007095746.1:n.327del, XR_007095747.1:n.327del, XR_007095748.1:n.327del, XR_007095749.1:n.327del, XR_007095751.1:n.327del, NP_079541.1:p.Asp91fs, NP_001138865.1:p.Asp91fs, NP_001308208.1:p.Asp91fs, NP_001138864.1:p.Asp91fs, NP_001308206.1:p.Asp91fs, NP_001138866.1:p.Asp91fs, NP_001308207.1:p.Asp91fs, XP_016862785.1:p.Asp91fs, XP_016862784.1:p.Asp91fs, XP_016862782.1:p.Asp91fs, XP_016862783.1:p.Asp91fs, XP_016862781.1:p.Asp91fs, XP_024309553.1:p.Asp91fs, XP_047304985.1:p.Asp91fs, XP_047304988.1:p.Asp91fs, XP_047304986.1:p.Asp91fs, XP_047304987.1:p.Asp91fs, XP_047304989.1:p.Asp91fs, XP_047304990.1:p.Asp91fs

        4.

        rs1480056442 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          3:12496530 (GRCh38)
          3:12538029 (GRCh37)
          Canonical SPDI:
          NC_000003.12:12496529:A:G
          Gene:
          TSEN2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000003.12:g.12496530A>G, NC_000003.11:g.12538029A>G, NG_011521.2:g.17099A>G, NM_025265.4:c.284A>G, NM_025265.3:c.284A>G, NM_001145393.3:c.284A>G, NM_001145393.2:c.284A>G, NM_001145393.1:c.284A>G, NM_001321279.2:c.284A>G, NM_001321279.1:c.284A>G, NM_001145392.2:c.284A>G, NM_001145392.1:c.284A>G, NM_001321277.2:c.284A>G, NM_001321277.1:c.284A>G, NM_001145394.2:c.284A>G, NM_001145394.1:c.284A>G, NR_135607.2:n.339A>G, NR_135607.1:n.387A>G, NM_001321278.2:c.284A>G, NM_001321278.1:c.284A>G, XM_011534139.4:c.11A>G, XM_011534139.3:c.11A>G, XM_011534139.2:c.11A>G, XM_011534139.1:c.11A>G, XM_017007296.3:c.284A>G, XM_017007296.2:c.284A>G, XM_017007296.1:c.284A>G, XM_017007295.3:c.284A>G, XM_017007295.2:c.284A>G, XM_017007295.1:c.284A>G, XR_001740289.3:n.702A>G, XR_001740289.2:n.671A>G, XR_001740289.1:n.671A>G, XR_001740290.3:n.339A>G, XR_001740290.2:n.363A>G, XR_001740290.1:n.387A>G, XM_017007293.2:c.284A>G, XM_017007293.1:c.284A>G, XM_017007294.2:c.284A>G, XM_017007294.1:c.284A>G, XM_017007292.2:c.284A>G, XM_017007292.1:c.284A>G, XM_024453785.2:c.284A>G, XM_024453785.1:c.284A>G, XR_001740291.2:n.702A>G, XR_001740291.1:n.671A>G, XR_002959592.2:n.450A>G, XR_002959592.1:n.405A>G, XR_002959593.2:n.450A>G, XR_002959593.1:n.419A>G, XM_047449029.1:c.284A>G, XR_007095741.1:n.1013A>G, XM_047449032.1:c.284A>G, NM_001145395.1:c.284A>G, XR_007095739.1:n.702A>G, XR_007095740.1:n.1013A>G, XR_007095737.1:n.339A>G, XM_047449030.1:c.284A>G, XR_007095738.1:n.339A>G, XR_007095743.1:n.339A>G, XR_007095736.1:n.339A>G, XR_007095742.1:n.339A>G, XM_047449031.1:c.284A>G, XM_047449033.1:c.284A>G, XR_007095750.1:n.702A>G, XM_047449034.1:c.284A>G, XR_007095744.1:n.339A>G, XR_007095745.1:n.339A>G, XR_007095746.1:n.339A>G, XR_007095747.1:n.339A>G, XR_007095748.1:n.339A>G, XR_007095749.1:n.339A>G, XR_007095751.1:n.339A>G, NP_079541.1:p.Asn95Ser, NP_001138865.1:p.Asn95Ser, NP_001308208.1:p.Asn95Ser, NP_001138864.1:p.Asn95Ser, NP_001308206.1:p.Asn95Ser, NP_001138866.1:p.Asn95Ser, NP_001308207.1:p.Asn95Ser, XP_011532441.1:p.Asn4Ser, XP_016862785.1:p.Asn95Ser, XP_016862784.1:p.Asn95Ser, XP_016862782.1:p.Asn95Ser, XP_016862783.1:p.Asn95Ser, XP_016862781.1:p.Asn95Ser, XP_024309553.1:p.Asn95Ser, XP_047304985.1:p.Asn95Ser, XP_047304988.1:p.Asn95Ser, XP_047304986.1:p.Asn95Ser, XP_047304987.1:p.Asn95Ser, XP_047304989.1:p.Asn95Ser, XP_047304990.1:p.Asn95Ser

          5.

          rs1477347690 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            3:12519135 (GRCh38)
            3:12560634 (GRCh37)
            Canonical SPDI:
            NC_000003.12:12519134:A:G
            Gene:
            TSEN2 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
            Clinical significance:
            likely-pathogenic
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000003.12:g.12519135A>G, NC_000003.11:g.12560634A>G, NG_011521.2:g.39704A>G, NM_025265.4:c.1037A>G, NM_025265.3:c.1037A>G, NM_001145393.3:c.959A>G, NM_001145393.2:c.959A>G, NM_001145393.1:c.959A>G, NM_001321279.2:c.959A>G, NM_001321279.1:c.959A>G, NM_001145392.2:c.1037A>G, NM_001145392.1:c.1037A>G, NM_001321277.2:c.1037A>G, NM_001321277.1:c.1037A>G, NM_001145394.2:c.860A>G, NM_001145394.1:c.860A>G, NR_135607.2:n.1092A>G, NR_135607.1:n.1140A>G, NM_001321278.2:c.1037A>G, NM_001321278.1:c.1037A>G, XM_011534139.4:c.764A>G, XM_011534139.3:c.764A>G, XM_011534139.2:c.764A>G, XM_011534139.1:c.764A>G, XM_017007296.3:c.1037A>G, XM_017007296.2:c.1037A>G, XM_017007296.1:c.1037A>G, XM_017007295.3:c.1094A>G, XM_017007295.2:c.1094A>G, XM_017007295.1:c.1094A>G, XR_001740289.3:n.1455A>G, XR_001740289.2:n.1424A>G, XR_001740289.1:n.1424A>G, XR_001740290.3:n.1014A>G, XR_001740290.2:n.1038A>G, XR_001740290.1:n.1062A>G, XM_017007293.2:c.1094A>G, XM_017007293.1:c.1094A>G, XM_017007294.2:c.1094A>G, XM_017007294.1:c.1094A>G, XM_017007292.2:c.1094A>G, XM_017007292.1:c.1094A>G, XM_024453785.2:c.959A>G, XM_024453785.1:c.959A>G, XR_001740291.2:n.1377A>G, XR_001740291.1:n.1346A>G, XR_002959592.2:n.1260A>G, XR_002959592.1:n.1215A>G, XR_002959593.2:n.1203A>G, XR_002959593.1:n.1172A>G, XM_047449029.1:c.1037A>G, XR_007095741.1:n.1766A>G, XM_047449032.1:c.959A>G, NM_001145395.1:c.959A>G, XR_007095739.1:n.1455A>G, XR_007095740.1:n.1766A>G, XR_007095737.1:n.1149A>G, XM_047449030.1:c.1016A>G, XR_007095738.1:n.1092A>G, XR_007095743.1:n.1014A>G, XR_007095736.1:n.1149A>G, XR_007095742.1:n.1071A>G, XM_047449031.1:c.1094A>G, XM_047449033.1:c.1037A>G, XM_047449034.1:c.959A>G, XR_007095744.1:n.1149A>G, XR_007095745.1:n.1092A>G, XR_007095746.1:n.1014A>G, NP_079541.1:p.Tyr346Cys, NP_001138865.1:p.Tyr320Cys, NP_001308208.1:p.Tyr320Cys, NP_001138864.1:p.Tyr346Cys, NP_001308206.1:p.Tyr346Cys, NP_001138866.1:p.Tyr287Cys, NP_001308207.1:p.Tyr346Cys, XP_011532441.1:p.Tyr255Cys, XP_016862785.1:p.Tyr346Cys, XP_016862784.1:p.Tyr365Cys, XP_016862782.1:p.Tyr365Cys, XP_016862783.1:p.Tyr365Cys, XP_016862781.1:p.Tyr365Cys, XP_024309553.1:p.Tyr320Cys, XP_047304985.1:p.Tyr346Cys, XP_047304988.1:p.Tyr320Cys, XP_047304986.1:p.Tyr339Cys, XP_047304987.1:p.Tyr365Cys, XP_047304989.1:p.Tyr346Cys, XP_047304990.1:p.Tyr320Cys

            6.

            rs1475363856 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              3:12529866 (GRCh38)
              3:12571365 (GRCh37)
              Canonical SPDI:
              NC_000003.12:12529865:T:C,NC_000003.12:12529865:T:G
              Gene:
              TSEN2 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_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_000003.12:g.12529866T>C, NC_000003.12:g.12529866T>G, NC_000003.11:g.12571365T>C, NC_000003.11:g.12571365T>G, NG_011521.2:g.50435T>C, NG_011521.2:g.50435T>G, NM_025265.4:c.1241T>C, NM_025265.4:c.1241T>G, NM_025265.3:c.1241T>C, NM_025265.3:c.1241T>G, NM_001145393.3:c.1163T>C, NM_001145393.3:c.1163T>G, NM_001145393.2:c.1163T>C, NM_001145393.2:c.1163T>G, NM_001145393.1:c.1163T>C, NM_001145393.1:c.1163T>G, NM_001321279.2:c.1163T>C, NM_001321279.2:c.1163T>G, NM_001321279.1:c.1163T>C, NM_001321279.1:c.1163T>G, NM_001145392.2:c.1241T>C, NM_001145392.2:c.1241T>G, NM_001145392.1:c.1241T>C, NM_001145392.1:c.1241T>G, NM_001321277.2:c.1241T>C, NM_001321277.2:c.1241T>G, NM_001321277.1:c.1241T>C, NM_001321277.1:c.1241T>G, NM_001145394.2:c.1064T>C, NM_001145394.2:c.1064T>G, NM_001145394.1:c.1064T>C, NM_001145394.1:c.1064T>G, NR_135607.2:n.1296T>C, NR_135607.2:n.1296T>G, NR_135607.1:n.1344T>C, NR_135607.1:n.1344T>G, NM_001321278.2:c.1241T>C, NM_001321278.2:c.1241T>G, NM_001321278.1:c.1241T>C, NM_001321278.1:c.1241T>G, XM_011534139.4:c.968T>C, XM_011534139.4:c.968T>G, XM_011534139.3:c.968T>C, XM_011534139.3:c.968T>G, XM_011534139.2:c.968T>C, XM_011534139.2:c.968T>G, XM_011534139.1:c.968T>C, XM_011534139.1:c.968T>G, XM_017007296.3:c.1241T>C, XM_017007296.3:c.1241T>G, XM_017007296.2:c.1241T>C, XM_017007296.2:c.1241T>G, XM_017007296.1:c.1241T>C, XM_017007296.1:c.1241T>G, XM_017007295.3:c.1298T>C, XM_017007295.3:c.1298T>G, XM_017007295.2:c.1298T>C, XM_017007295.2:c.1298T>G, XM_017007295.1:c.1298T>C, XM_017007295.1:c.1298T>G, XR_001740289.3:n.1659T>C, XR_001740289.3:n.1659T>G, XR_001740289.2:n.1628T>C, XR_001740289.2:n.1628T>G, XR_001740289.1:n.1628T>C, XR_001740289.1:n.1628T>G, XR_001740290.3:n.1218T>C, XR_001740290.3:n.1218T>G, XR_001740290.2:n.1242T>C, XR_001740290.2:n.1242T>G, XR_001740290.1:n.1266T>C, XR_001740290.1:n.1266T>G, XM_017007293.2:c.1298T>C, XM_017007293.2:c.1298T>G, XM_017007293.1:c.1298T>C, XM_017007293.1:c.1298T>G, XM_017007294.2:c.1298T>C, XM_017007294.2:c.1298T>G, XM_017007294.1:c.1298T>C, XM_017007294.1:c.1298T>G, XM_017007292.2:c.1298T>C, XM_017007292.2:c.1298T>G, XM_017007292.1:c.1298T>C, XM_017007292.1:c.1298T>G, XM_024453785.2:c.1163T>C, XM_024453785.2:c.1163T>G, XM_024453785.1:c.1163T>C, XM_024453785.1:c.1163T>G, XR_001740291.2:n.1581T>C, XR_001740291.2:n.1581T>G, XR_001740291.1:n.1550T>C, XR_001740291.1:n.1550T>G, XR_002959592.2:n.1464T>C, XR_002959592.2:n.1464T>G, XR_002959592.1:n.1419T>C, XR_002959592.1:n.1419T>G, XR_002959593.2:n.1407T>C, XR_002959593.2:n.1407T>G, XR_002959593.1:n.1376T>C, XR_002959593.1:n.1376T>G, XM_047449029.1:c.1241T>C, XM_047449029.1:c.1241T>G, XR_007095741.1:n.1970T>C, XR_007095741.1:n.1970T>G, XM_047449032.1:c.1163T>C, XM_047449032.1:c.1163T>G, NM_001145395.1:c.1163T>C, NM_001145395.1:c.1163T>G, XR_007095739.1:n.1659T>C, XR_007095739.1:n.1659T>G, XR_007095740.1:n.1970T>C, XR_007095740.1:n.1970T>G, XR_007095737.1:n.1353T>C, XR_007095737.1:n.1353T>G, XM_047449030.1:c.1220T>C, XM_047449030.1:c.1220T>G, XR_007095738.1:n.1296T>C, XR_007095738.1:n.1296T>G, XR_007095743.1:n.1218T>C, XR_007095743.1:n.1218T>G, XR_007095736.1:n.1353T>C, XR_007095736.1:n.1353T>G, XR_007095742.1:n.1275T>C, XR_007095742.1:n.1275T>G, XM_047449031.1:c.1298T>C, XM_047449031.1:c.1298T>G, XM_047449033.1:c.1241T>C, XM_047449033.1:c.1241T>G, XR_007095750.1:n.1469T>C, XR_007095750.1:n.1469T>G, XM_047449034.1:c.1163T>C, XM_047449034.1:c.1163T>G, XR_007095744.1:n.1316T>C, XR_007095744.1:n.1316T>G, XR_007095745.1:n.1259T>C, XR_007095745.1:n.1259T>G, XR_007095746.1:n.1181T>C, XR_007095746.1:n.1181T>G, XR_007095747.1:n.1163T>C, XR_007095747.1:n.1163T>G, XR_007095749.1:n.1106T>C, XR_007095749.1:n.1106T>G, NP_079541.1:p.Val414Ala, NP_079541.1:p.Val414Gly, NP_001138865.1:p.Val388Ala, NP_001138865.1:p.Val388Gly, NP_001308208.1:p.Val388Ala, NP_001308208.1:p.Val388Gly, NP_001138864.1:p.Val414Ala, NP_001138864.1:p.Val414Gly, NP_001308206.1:p.Val414Ala, NP_001308206.1:p.Val414Gly, NP_001138866.1:p.Val355Ala, NP_001138866.1:p.Val355Gly, NP_001308207.1:p.Val414Ala, NP_001308207.1:p.Val414Gly, XP_011532441.1:p.Val323Ala, XP_011532441.1:p.Val323Gly, XP_016862785.1:p.Val414Ala, XP_016862785.1:p.Val414Gly, XP_016862784.1:p.Val433Ala, XP_016862784.1:p.Val433Gly, XP_016862782.1:p.Val433Ala, XP_016862782.1:p.Val433Gly, XP_016862783.1:p.Val433Ala, XP_016862783.1:p.Val433Gly, XP_016862781.1:p.Val433Ala, XP_016862781.1:p.Val433Gly, XP_024309553.1:p.Val388Ala, XP_024309553.1:p.Val388Gly, XP_047304985.1:p.Val414Ala, XP_047304985.1:p.Val414Gly, XP_047304988.1:p.Val388Ala, XP_047304988.1:p.Val388Gly, XP_047304986.1:p.Val407Ala, XP_047304986.1:p.Val407Gly, XP_047304987.1:p.Val433Ala, XP_047304987.1:p.Val433Gly, XP_047304989.1:p.Val414Ala, XP_047304989.1:p.Val414Gly, XP_047304990.1:p.Val388Ala, XP_047304990.1:p.Val388Gly

              7.

              rs1474621806 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:12531599 (GRCh38)
                3:12573098 (GRCh37)
                Canonical SPDI:
                NC_000003.12:12531598:C:T
                Gene:
                TSEN2 (Varview)
                Functional Consequence:
                coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000003.12:g.12531599C>T, NC_000003.11:g.12573098C>T, NG_011521.2:g.52168C>T, NM_025265.4:c.1278C>T, NM_025265.3:c.1278C>T, NM_001145393.3:c.1200C>T, NM_001145393.2:c.1200C>T, NM_001145393.1:c.1200C>T, NM_001321279.2:c.1200C>T, NM_001321279.1:c.1200C>T, NM_001145392.2:c.1278C>T, NM_001145392.1:c.1278C>T, NM_001321277.2:c.1278C>T, NM_001321277.1:c.1278C>T, NM_001145394.2:c.1101C>T, NM_001145394.1:c.1101C>T, NR_135607.2:n.1333C>T, NR_135607.1:n.1381C>T, NM_001321278.2:c.1278C>T, NM_001321278.1:c.1278C>T, XM_011534139.4:c.1005C>T, XM_011534139.3:c.1005C>T, XM_011534139.2:c.1005C>T, XM_011534139.1:c.1005C>T, XM_017007296.3:c.1278C>T, XM_017007296.2:c.1278C>T, XM_017007296.1:c.1278C>T, XM_017007295.3:c.1335C>T, XM_017007295.2:c.1335C>T, XM_017007295.1:c.1335C>T, XR_001740289.3:n.1696C>T, XR_001740289.2:n.1665C>T, XR_001740289.1:n.1665C>T, XR_001740290.3:n.1255C>T, XR_001740290.2:n.1279C>T, XR_001740290.1:n.1303C>T, XM_017007293.2:c.1335C>T, XM_017007293.1:c.1335C>T, XM_017007294.2:c.1335C>T, XM_017007294.1:c.1335C>T, XM_017007292.2:c.1335C>T, XM_017007292.1:c.1335C>T, XM_024453785.2:c.1200C>T, XM_024453785.1:c.1200C>T, XR_001740291.2:n.1618C>T, XR_001740291.1:n.1587C>T, XR_002959592.2:n.1501C>T, XR_002959592.1:n.1456C>T, XR_002959593.2:n.1444C>T, XR_002959593.1:n.1413C>T, XM_047449029.1:c.1278C>T, XR_007095741.1:n.2007C>T, XM_047449032.1:c.1200C>T, XR_007095739.1:n.1696C>T, XR_007095740.1:n.2007C>T, XR_007095737.1:n.1390C>T, XM_047449030.1:c.1257C>T, XR_007095738.1:n.1333C>T, XR_007095743.1:n.1255C>T, XR_007095736.1:n.1390C>T, XR_007095742.1:n.1312C>T, XR_007095750.1:n.1506C>T, XR_007095744.1:n.1353C>T, XR_007095745.1:n.1296C>T, XR_007095746.1:n.1218C>T, XR_007095747.1:n.1200C>T, XR_007095749.1:n.1143C>T

                8.

                rs1474370107 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  ACGTG>- [Show Flanks]
                  Chromosome:
                  3:12503723 (GRCh38)
                  3:12545222 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:12503722:ACGTG:
                  Gene:
                  TSEN2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000008/2 (TOPMED)
                  -=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000003.12:g.12503723_12503727del, NC_000003.11:g.12545222_12545226del, NG_011521.2:g.24292_24296del, NM_025265.4:c.770_774del, NM_025265.3:c.770_774del, NM_001145393.3:c.770_774del, NM_001145393.2:c.770_774del, NM_001145393.1:c.770_774del, NM_001321279.2:c.770_774del, NM_001321279.1:c.770_774del, NM_001145392.2:c.770_774del, NM_001145392.1:c.770_774del, NM_001321277.2:c.770_774del, NM_001321277.1:c.770_774del, NM_001145394.2:c.593_597del, NM_001145394.1:c.593_597del, NR_135607.2:n.825_829del, NR_135607.1:n.873_877del, NM_001321278.2:c.770_774del, NM_001321278.1:c.770_774del, XM_011534139.4:c.497_501del, XM_011534139.3:c.497_501del, XM_011534139.2:c.497_501del, XM_011534139.1:c.497_501del, XM_017007296.3:c.770_774del, XM_017007296.2:c.770_774del, XM_017007296.1:c.770_774del, XM_017007295.3:c.827_831del, XM_017007295.2:c.827_831del, XM_017007295.1:c.827_831del, XR_001740289.3:n.1188_1192del, XR_001740289.2:n.1157_1161del, XR_001740289.1:n.1157_1161del, XR_001740290.3:n.825_829del, XR_001740290.2:n.849_853del, XR_001740290.1:n.873_877del, XM_017007293.2:c.827_831del, XM_017007293.1:c.827_831del, XM_017007294.2:c.827_831del, XM_017007294.1:c.827_831del, XM_017007292.2:c.827_831del, XM_017007292.1:c.827_831del, XM_024453785.2:c.770_774del, XM_024453785.1:c.770_774del, XR_001740291.2:n.1188_1192del, XR_001740291.1:n.1157_1161del, XR_002959592.2:n.993_997del, XR_002959592.1:n.948_952del, XR_002959593.2:n.936_940del, XR_002959593.1:n.905_909del, XM_047449029.1:c.770_774del, XR_007095741.1:n.1499_1503del, XM_047449032.1:c.770_774del, NM_001145395.1:c.770_774del, XR_007095739.1:n.1188_1192del, XR_007095740.1:n.1499_1503del, XR_007095737.1:n.882_886del, XM_047449030.1:c.827_831del, XR_007095738.1:n.825_829del, XR_007095743.1:n.825_829del, XR_007095736.1:n.882_886del, XR_007095742.1:n.882_886del, XM_047449031.1:c.827_831del, XM_047449033.1:c.770_774del, XR_007095750.1:n.1188_1192del, XM_047449034.1:c.770_774del, XR_007095744.1:n.882_886del, XR_007095745.1:n.825_829del, XR_007095746.1:n.825_829del, XR_007095747.1:n.882_886del, XR_007095748.1:n.882_886del, XR_007095749.1:n.825_829del, XR_007095751.1:n.825_829del, NP_079541.1:p.Tyr257fs, NP_001138865.1:p.Tyr257fs, NP_001308208.1:p.Tyr257fs, NP_001138864.1:p.Tyr257fs, NP_001308206.1:p.Tyr257fs, NP_001138866.1:p.Tyr198fs, NP_001308207.1:p.Tyr257fs, XP_011532441.1:p.Tyr166fs, XP_016862785.1:p.Tyr257fs, XP_016862784.1:p.Tyr276fs, XP_016862782.1:p.Tyr276fs, XP_016862783.1:p.Tyr276fs, XP_016862781.1:p.Tyr276fs, XP_024309553.1:p.Tyr257fs, XP_047304985.1:p.Tyr257fs, XP_047304988.1:p.Tyr257fs, XP_047304986.1:p.Tyr276fs, XP_047304987.1:p.Tyr276fs, XP_047304989.1:p.Tyr257fs, XP_047304990.1:p.Tyr257fs

                  9.

                  rs1470235917 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    3:12516620 (GRCh38)
                    3:12558119 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:12516619:T:G
                    Gene:
                    TSEN2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000056/2 (ALFA)
                    G=0.000012/3 (GnomAD_exomes)
                    G=0.000019/5 (TOPMED)
                    G=0.000036/5 (GnomAD)
                    HGVS:
                    NC_000003.12:g.12516620T>G, NC_000003.11:g.12558119T>G, NG_011521.2:g.37189T>G, NM_025265.4:c.919T>G, NM_025265.3:c.919T>G, NM_001145393.3:c.841T>G, NM_001145393.2:c.841T>G, NM_001145393.1:c.841T>G, NM_001321279.2:c.841T>G, NM_001321279.1:c.841T>G, NM_001145392.2:c.919T>G, NM_001145392.1:c.919T>G, NM_001321277.2:c.919T>G, NM_001321277.1:c.919T>G, NM_001145394.2:c.742T>G, NM_001145394.1:c.742T>G, NR_135607.2:n.974T>G, NR_135607.1:n.1022T>G, NM_001321278.2:c.919T>G, NM_001321278.1:c.919T>G, XM_011534139.4:c.646T>G, XM_011534139.3:c.646T>G, XM_011534139.2:c.646T>G, XM_011534139.1:c.646T>G, XM_017007296.3:c.919T>G, XM_017007296.2:c.919T>G, XM_017007296.1:c.919T>G, XM_017007295.3:c.976T>G, XM_017007295.2:c.976T>G, XM_017007295.1:c.976T>G, XR_001740289.3:n.1337T>G, XR_001740289.2:n.1306T>G, XR_001740289.1:n.1306T>G, XR_001740290.3:n.896T>G, XR_001740290.2:n.920T>G, XR_001740290.1:n.944T>G, XM_017007293.2:c.976T>G, XM_017007293.1:c.976T>G, XM_017007294.2:c.976T>G, XM_017007294.1:c.976T>G, XM_017007292.2:c.976T>G, XM_017007292.1:c.976T>G, XM_024453785.2:c.841T>G, XM_024453785.1:c.841T>G, XR_001740291.2:n.1259T>G, XR_001740291.1:n.1228T>G, XR_002959592.2:n.1142T>G, XR_002959592.1:n.1097T>G, XR_002959593.2:n.1085T>G, XR_002959593.1:n.1054T>G, XM_047449029.1:c.919T>G, XR_007095741.1:n.1648T>G, XM_047449032.1:c.841T>G, NM_001145395.1:c.841T>G, XR_007095739.1:n.1337T>G, XR_007095740.1:n.1648T>G, XR_007095737.1:n.1031T>G, XM_047449030.1:c.898T>G, XR_007095738.1:n.974T>G, XR_007095743.1:n.896T>G, XR_007095736.1:n.1031T>G, XR_007095742.1:n.953T>G, XM_047449031.1:c.976T>G, XM_047449033.1:c.919T>G, XM_047449034.1:c.841T>G, XR_007095744.1:n.1031T>G, XR_007095745.1:n.974T>G, XR_007095746.1:n.896T>G, XR_007095748.1:n.1159T>G, XR_007095751.1:n.1102T>G, NP_079541.1:p.Leu307Val, NP_001138865.1:p.Leu281Val, NP_001308208.1:p.Leu281Val, NP_001138864.1:p.Leu307Val, NP_001308206.1:p.Leu307Val, NP_001138866.1:p.Leu248Val, NP_001308207.1:p.Leu307Val, XP_011532441.1:p.Leu216Val, XP_016862785.1:p.Leu307Val, XP_016862784.1:p.Leu326Val, XP_016862782.1:p.Leu326Val, XP_016862783.1:p.Leu326Val, XP_016862781.1:p.Leu326Val, XP_024309553.1:p.Leu281Val, XP_047304985.1:p.Leu307Val, XP_047304988.1:p.Leu281Val, XP_047304986.1:p.Leu300Val, XP_047304987.1:p.Leu326Val, XP_047304989.1:p.Leu307Val, XP_047304990.1:p.Leu281Val

                    10.

                    rs1469799141 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      3:12503691 (GRCh38)
                      3:12545190 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:12503690:G:T
                      Gene:
                      TSEN2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.12503691G>T, NC_000003.11:g.12545190G>T, NG_011521.2:g.24260G>T, NM_025265.4:c.738G>T, NM_025265.3:c.738G>T, NM_001145393.3:c.738G>T, NM_001145393.2:c.738G>T, NM_001145393.1:c.738G>T, NM_001321279.2:c.738G>T, NM_001321279.1:c.738G>T, NM_001145392.2:c.738G>T, NM_001145392.1:c.738G>T, NM_001321277.2:c.738G>T, NM_001321277.1:c.738G>T, NM_001145394.2:c.561G>T, NM_001145394.1:c.561G>T, NR_135607.2:n.793G>T, NR_135607.1:n.841G>T, NM_001321278.2:c.738G>T, NM_001321278.1:c.738G>T, XM_011534139.4:c.465G>T, XM_011534139.3:c.465G>T, XM_011534139.2:c.465G>T, XM_011534139.1:c.465G>T, XM_017007296.3:c.738G>T, XM_017007296.2:c.738G>T, XM_017007296.1:c.738G>T, XM_017007295.3:c.795G>T, XM_017007295.2:c.795G>T, XM_017007295.1:c.795G>T, XR_001740289.3:n.1156G>T, XR_001740289.2:n.1125G>T, XR_001740289.1:n.1125G>T, XR_001740290.3:n.793G>T, XR_001740290.2:n.817G>T, XR_001740290.1:n.841G>T, XM_017007293.2:c.795G>T, XM_017007293.1:c.795G>T, XM_017007294.2:c.795G>T, XM_017007294.1:c.795G>T, XM_017007292.2:c.795G>T, XM_017007292.1:c.795G>T, XM_024453785.2:c.738G>T, XM_024453785.1:c.738G>T, XR_001740291.2:n.1156G>T, XR_001740291.1:n.1125G>T, XR_002959592.2:n.961G>T, XR_002959592.1:n.916G>T, XR_002959593.2:n.904G>T, XR_002959593.1:n.873G>T, XM_047449029.1:c.738G>T, XR_007095741.1:n.1467G>T, XM_047449032.1:c.738G>T, NM_001145395.1:c.738G>T, XR_007095739.1:n.1156G>T, XR_007095740.1:n.1467G>T, XR_007095737.1:n.850G>T, XM_047449030.1:c.795G>T, XR_007095738.1:n.793G>T, XR_007095743.1:n.793G>T, XR_007095736.1:n.850G>T, XR_007095742.1:n.850G>T, XM_047449031.1:c.795G>T, XM_047449033.1:c.738G>T, XR_007095750.1:n.1156G>T, XM_047449034.1:c.738G>T, XR_007095744.1:n.850G>T, XR_007095745.1:n.793G>T, XR_007095746.1:n.793G>T, XR_007095747.1:n.850G>T, XR_007095748.1:n.850G>T, XR_007095749.1:n.793G>T, XR_007095751.1:n.793G>T

                      11.

                      rs1469655355 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        3:12519160 (GRCh38)
                        3:12560659 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:12519159:G:A,NC_000003.12:12519159:G:T
                        Gene:
                        TSEN2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.12519160G>A, NC_000003.12:g.12519160G>T, NC_000003.11:g.12560659G>A, NC_000003.11:g.12560659G>T, NG_011521.2:g.39729G>A, NG_011521.2:g.39729G>T, NM_025265.4:c.1062G>A, NM_025265.4:c.1062G>T, NM_025265.3:c.1062G>A, NM_025265.3:c.1062G>T, NM_001145393.3:c.984G>A, NM_001145393.3:c.984G>T, NM_001145393.2:c.984G>A, NM_001145393.2:c.984G>T, NM_001145393.1:c.984G>A, NM_001145393.1:c.984G>T, NM_001321279.2:c.984G>A, NM_001321279.2:c.984G>T, NM_001321279.1:c.984G>A, NM_001321279.1:c.984G>T, NM_001145392.2:c.1062G>A, NM_001145392.2:c.1062G>T, NM_001145392.1:c.1062G>A, NM_001145392.1:c.1062G>T, NM_001321277.2:c.1062G>A, NM_001321277.2:c.1062G>T, NM_001321277.1:c.1062G>A, NM_001321277.1:c.1062G>T, NM_001145394.2:c.885G>A, NM_001145394.2:c.885G>T, NM_001145394.1:c.885G>A, NM_001145394.1:c.885G>T, NR_135607.2:n.1117G>A, NR_135607.2:n.1117G>T, NR_135607.1:n.1165G>A, NR_135607.1:n.1165G>T, NM_001321278.2:c.1062G>A, NM_001321278.2:c.1062G>T, NM_001321278.1:c.1062G>A, NM_001321278.1:c.1062G>T, XM_011534139.4:c.789G>A, XM_011534139.4:c.789G>T, XM_011534139.3:c.789G>A, XM_011534139.3:c.789G>T, XM_011534139.2:c.789G>A, XM_011534139.2:c.789G>T, XM_011534139.1:c.789G>A, XM_011534139.1:c.789G>T, XM_017007296.3:c.1062G>A, XM_017007296.3:c.1062G>T, XM_017007296.2:c.1062G>A, XM_017007296.2:c.1062G>T, XM_017007296.1:c.1062G>A, XM_017007296.1:c.1062G>T, XM_017007295.3:c.1119G>A, XM_017007295.3:c.1119G>T, XM_017007295.2:c.1119G>A, XM_017007295.2:c.1119G>T, XM_017007295.1:c.1119G>A, XM_017007295.1:c.1119G>T, XR_001740289.3:n.1480G>A, XR_001740289.3:n.1480G>T, XR_001740289.2:n.1449G>A, XR_001740289.2:n.1449G>T, XR_001740289.1:n.1449G>A, XR_001740289.1:n.1449G>T, XR_001740290.3:n.1039G>A, XR_001740290.3:n.1039G>T, XR_001740290.2:n.1063G>A, XR_001740290.2:n.1063G>T, XR_001740290.1:n.1087G>A, XR_001740290.1:n.1087G>T, XM_017007293.2:c.1119G>A, XM_017007293.2:c.1119G>T, XM_017007293.1:c.1119G>A, XM_017007293.1:c.1119G>T, XM_017007294.2:c.1119G>A, XM_017007294.2:c.1119G>T, XM_017007294.1:c.1119G>A, XM_017007294.1:c.1119G>T, XM_017007292.2:c.1119G>A, XM_017007292.2:c.1119G>T, XM_017007292.1:c.1119G>A, XM_017007292.1:c.1119G>T, XM_024453785.2:c.984G>A, XM_024453785.2:c.984G>T, XM_024453785.1:c.984G>A, XM_024453785.1:c.984G>T, XR_001740291.2:n.1402G>A, XR_001740291.2:n.1402G>T, XR_001740291.1:n.1371G>A, XR_001740291.1:n.1371G>T, XR_002959592.2:n.1285G>A, XR_002959592.2:n.1285G>T, XR_002959592.1:n.1240G>A, XR_002959592.1:n.1240G>T, XR_002959593.2:n.1228G>A, XR_002959593.2:n.1228G>T, XR_002959593.1:n.1197G>A, XR_002959593.1:n.1197G>T, XM_047449029.1:c.1062G>A, XM_047449029.1:c.1062G>T, XR_007095741.1:n.1791G>A, XR_007095741.1:n.1791G>T, XM_047449032.1:c.984G>A, XM_047449032.1:c.984G>T, NM_001145395.1:c.984G>A, NM_001145395.1:c.984G>T, XR_007095739.1:n.1480G>A, XR_007095739.1:n.1480G>T, XR_007095740.1:n.1791G>A, XR_007095740.1:n.1791G>T, XR_007095737.1:n.1174G>A, XR_007095737.1:n.1174G>T, XM_047449030.1:c.1041G>A, XM_047449030.1:c.1041G>T, XR_007095738.1:n.1117G>A, XR_007095738.1:n.1117G>T, XR_007095743.1:n.1039G>A, XR_007095743.1:n.1039G>T, XR_007095736.1:n.1174G>A, XR_007095736.1:n.1174G>T, XR_007095742.1:n.1096G>A, XR_007095742.1:n.1096G>T, XM_047449031.1:c.1119G>A, XM_047449031.1:c.1119G>T, XM_047449033.1:c.1062G>A, XM_047449033.1:c.1062G>T, XM_047449034.1:c.984G>A, XM_047449034.1:c.984G>T, XR_007095744.1:n.1174G>A, XR_007095744.1:n.1174G>T, XR_007095745.1:n.1117G>A, XR_007095745.1:n.1117G>T, XR_007095746.1:n.1039G>A, XR_007095746.1:n.1039G>T, NP_079541.1:p.Trp354Ter, NP_079541.1:p.Trp354Cys, NP_001138865.1:p.Trp328Ter, NP_001138865.1:p.Trp328Cys, NP_001308208.1:p.Trp328Ter, NP_001308208.1:p.Trp328Cys, NP_001138864.1:p.Trp354Ter, NP_001138864.1:p.Trp354Cys, NP_001308206.1:p.Trp354Ter, NP_001308206.1:p.Trp354Cys, NP_001138866.1:p.Trp295Ter, NP_001138866.1:p.Trp295Cys, NP_001308207.1:p.Trp354Ter, NP_001308207.1:p.Trp354Cys, XP_011532441.1:p.Trp263Ter, XP_011532441.1:p.Trp263Cys, XP_016862785.1:p.Trp354Ter, XP_016862785.1:p.Trp354Cys, XP_016862784.1:p.Trp373Ter, XP_016862784.1:p.Trp373Cys, XP_016862782.1:p.Trp373Ter, XP_016862782.1:p.Trp373Cys, XP_016862783.1:p.Trp373Ter, XP_016862783.1:p.Trp373Cys, XP_016862781.1:p.Trp373Ter, XP_016862781.1:p.Trp373Cys, XP_024309553.1:p.Trp328Ter, XP_024309553.1:p.Trp328Cys, XP_047304985.1:p.Trp354Ter, XP_047304985.1:p.Trp354Cys, XP_047304988.1:p.Trp328Ter, XP_047304988.1:p.Trp328Cys, XP_047304986.1:p.Trp347Ter, XP_047304986.1:p.Trp347Cys, XP_047304987.1:p.Trp373Ter, XP_047304987.1:p.Trp373Cys, XP_047304989.1:p.Trp354Ter, XP_047304989.1:p.Trp354Cys, XP_047304990.1:p.Trp328Ter, XP_047304990.1:p.Trp328Cys

                        12.

                        rs1469123867 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:12503771 (GRCh38)
                          3:12545270 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:12503770:C:T
                          Gene:
                          TSEN2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000003.12:g.12503771C>T, NC_000003.11:g.12545270C>T, NG_011521.2:g.24340C>T, NM_025265.4:c.818C>T, NM_025265.3:c.818C>T, NM_001145393.3:c.818C>T, NM_001145393.2:c.818C>T, NM_001145393.1:c.818C>T, NM_001321279.2:c.818C>T, NM_001321279.1:c.818C>T, NM_001145392.2:c.818C>T, NM_001145392.1:c.818C>T, NM_001321277.2:c.818C>T, NM_001321277.1:c.818C>T, NM_001145394.2:c.641C>T, NM_001145394.1:c.641C>T, NR_135607.2:n.873C>T, NR_135607.1:n.921C>T, NM_001321278.2:c.818C>T, NM_001321278.1:c.818C>T, XM_011534139.4:c.545C>T, XM_011534139.3:c.545C>T, XM_011534139.2:c.545C>T, XM_011534139.1:c.545C>T, XM_017007296.3:c.818C>T, XM_017007296.2:c.818C>T, XM_017007296.1:c.818C>T, XM_017007295.3:c.875C>T, XM_017007295.2:c.875C>T, XM_017007295.1:c.875C>T, XR_001740289.3:n.1236C>T, XR_001740289.2:n.1205C>T, XR_001740289.1:n.1205C>T, XR_001740290.3:n.873C>T, XR_001740290.2:n.897C>T, XR_001740290.1:n.921C>T, XM_017007293.2:c.875C>T, XM_017007293.1:c.875C>T, XM_017007294.2:c.875C>T, XM_017007294.1:c.875C>T, XM_017007292.2:c.875C>T, XM_017007292.1:c.875C>T, XM_024453785.2:c.818C>T, XM_024453785.1:c.818C>T, XR_001740291.2:n.1236C>T, XR_001740291.1:n.1205C>T, XR_002959592.2:n.1041C>T, XR_002959592.1:n.996C>T, XR_002959593.2:n.984C>T, XR_002959593.1:n.953C>T, XM_047449029.1:c.818C>T, XR_007095741.1:n.1547C>T, XM_047449032.1:c.818C>T, NM_001145395.1:c.818C>T, XR_007095739.1:n.1236C>T, XR_007095740.1:n.1547C>T, XR_007095737.1:n.930C>T, XM_047449030.1:c.875C>T, XR_007095738.1:n.873C>T, XR_007095743.1:n.873C>T, XR_007095736.1:n.930C>T, XR_007095742.1:n.930C>T, XM_047449031.1:c.875C>T, XM_047449033.1:c.818C>T, XR_007095750.1:n.1236C>T, XM_047449034.1:c.818C>T, XR_007095744.1:n.930C>T, XR_007095745.1:n.873C>T, XR_007095746.1:n.873C>T, XR_007095747.1:n.930C>T, XR_007095748.1:n.930C>T, XR_007095749.1:n.873C>T, XR_007095751.1:n.873C>T, NP_079541.1:p.Ala273Val, NP_001138865.1:p.Ala273Val, NP_001308208.1:p.Ala273Val, NP_001138864.1:p.Ala273Val, NP_001308206.1:p.Ala273Val, NP_001138866.1:p.Ala214Val, NP_001308207.1:p.Ala273Val, XP_011532441.1:p.Ala182Val, XP_016862785.1:p.Ala273Val, XP_016862784.1:p.Ala292Val, XP_016862782.1:p.Ala292Val, XP_016862783.1:p.Ala292Val, XP_016862781.1:p.Ala292Val, XP_024309553.1:p.Ala273Val, XP_047304985.1:p.Ala273Val, XP_047304988.1:p.Ala273Val, XP_047304986.1:p.Ala292Val, XP_047304987.1:p.Ala292Val, XP_047304989.1:p.Ala273Val, XP_047304990.1:p.Ala273Val

                          13.

                          rs1467828160 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:12489949 (GRCh38)
                            3:12531448 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:12489948:T:C
                            Gene:
                            TSEN2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000003.12:g.12489949T>C, NC_000003.11:g.12531448T>C, NG_011521.2:g.10518T>C, NM_025265.4:c.149T>C, NM_025265.3:c.149T>C, NM_001145393.3:c.149T>C, NM_001145393.2:c.149T>C, NM_001145393.1:c.149T>C, NM_001321279.2:c.149T>C, NM_001321279.1:c.149T>C, NM_001145392.2:c.149T>C, NM_001145392.1:c.149T>C, NM_001321277.2:c.149T>C, NM_001321277.1:c.149T>C, NM_001145394.2:c.149T>C, NM_001145394.1:c.149T>C, NR_135607.2:n.204T>C, NR_135607.1:n.252T>C, NM_001321278.2:c.149T>C, NM_001321278.1:c.149T>C, XM_017007296.3:c.149T>C, XM_017007296.2:c.149T>C, XM_017007296.1:c.149T>C, XM_017007295.3:c.149T>C, XM_017007295.2:c.149T>C, XM_017007295.1:c.149T>C, XR_001740289.3:n.567T>C, XR_001740289.2:n.536T>C, XR_001740289.1:n.536T>C, XR_001740290.3:n.204T>C, XR_001740290.2:n.228T>C, XR_001740290.1:n.252T>C, XM_017007293.2:c.149T>C, XM_017007293.1:c.149T>C, XM_017007294.2:c.149T>C, XM_017007294.1:c.149T>C, XM_017007292.2:c.149T>C, XM_017007292.1:c.149T>C, XM_024453785.2:c.149T>C, XM_024453785.1:c.149T>C, XR_001740291.2:n.567T>C, XR_001740291.1:n.536T>C, XR_002959592.2:n.315T>C, XR_002959592.1:n.270T>C, XR_002959593.2:n.315T>C, XR_002959593.1:n.284T>C, XM_047449029.1:c.149T>C, XR_007095741.1:n.878T>C, XM_047449032.1:c.149T>C, NM_001145395.1:c.149T>C, XR_007095739.1:n.567T>C, XR_007095740.1:n.878T>C, XR_007095737.1:n.204T>C, XM_047449030.1:c.149T>C, XR_007095738.1:n.204T>C, XR_007095743.1:n.204T>C, XR_007095736.1:n.204T>C, XR_007095742.1:n.204T>C, XM_047449031.1:c.149T>C, XM_047449033.1:c.149T>C, XR_007095750.1:n.567T>C, XM_047449034.1:c.149T>C, XR_007095744.1:n.204T>C, XR_007095745.1:n.204T>C, XR_007095746.1:n.204T>C, XR_007095747.1:n.204T>C, XR_007095748.1:n.204T>C, XR_007095749.1:n.204T>C, XR_007095751.1:n.204T>C, NP_079541.1:p.Ile50Thr, NP_001138865.1:p.Ile50Thr, NP_001308208.1:p.Ile50Thr, NP_001138864.1:p.Ile50Thr, NP_001308206.1:p.Ile50Thr, NP_001138866.1:p.Ile50Thr, NP_001308207.1:p.Ile50Thr, XP_016862785.1:p.Ile50Thr, XP_016862784.1:p.Ile50Thr, XP_016862782.1:p.Ile50Thr, XP_016862783.1:p.Ile50Thr, XP_016862781.1:p.Ile50Thr, XP_024309553.1:p.Ile50Thr, XP_047304985.1:p.Ile50Thr, XP_047304988.1:p.Ile50Thr, XP_047304986.1:p.Ile50Thr, XP_047304987.1:p.Ile50Thr, XP_047304989.1:p.Ile50Thr, XP_047304990.1:p.Ile50Thr

                            14.

                            rs1466051660 has merged into rs797046052 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CAA>- [Show Flanks]
                              Chromosome:
                              3:12489941 (GRCh38)
                              3:12531440 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:12489935:AACAACAA:AACAA
                              Gene:
                              TSEN2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_upstream_transcript_variant,inframe_deletion,non_coding_transcript_variant
                              Clinical significance:
                              likely-pathogenic
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AACAA=0.000142/2 (ALFA)
                              -=0.000023/6 (TOPMED)
                              -=0.000024/6 (GnomAD_exomes)
                              -=0.000036/5 (GnomAD)
                              HGVS:
                              NC_000003.12:g.12489938CAA[1], NC_000003.11:g.12531437CAA[1], NG_011521.2:g.10507CAA[1], NM_025265.4:c.138CAA[1], NM_025265.3:c.138CAA[1], NM_001145393.3:c.138CAA[1], NM_001145393.2:c.138CAA[1], NM_001145393.1:c.138CAA[1], NM_001321279.2:c.138CAA[1], NM_001321279.1:c.138CAA[1], NM_001145392.2:c.138CAA[1], NM_001145392.1:c.138CAA[1], NM_001321277.2:c.138CAA[1], NM_001321277.1:c.138CAA[1], NM_001145394.2:c.138CAA[1], NM_001145394.1:c.138CAA[1], NR_135607.2:n.193CAA[1], NR_135607.1:n.241CAA[1], NM_001321278.2:c.138CAA[1], NM_001321278.1:c.138CAA[1], XM_017007296.3:c.138CAA[1], XM_017007296.2:c.138CAA[1], XM_017007296.1:c.138CAA[1], XM_017007295.3:c.138CAA[1], XM_017007295.2:c.138CAA[1], XM_017007295.1:c.138CAA[1], XR_001740289.3:n.556CAA[1], XR_001740289.2:n.525CAA[1], XR_001740289.1:n.525CAA[1], XR_001740290.3:n.193CAA[1], XR_001740290.2:n.217CAA[1], XR_001740290.1:n.241CAA[1], XM_017007293.2:c.138CAA[1], XM_017007293.1:c.138CAA[1], XM_017007294.2:c.138CAA[1], XM_017007294.1:c.138CAA[1], XM_017007292.2:c.138CAA[1], XM_017007292.1:c.138CAA[1], XM_024453785.2:c.138CAA[1], XM_024453785.1:c.138CAA[1], XR_001740291.2:n.556CAA[1], XR_001740291.1:n.525CAA[1], XR_002959592.2:n.304CAA[1], XR_002959592.1:n.259CAA[1], XR_002959593.2:n.304CAA[1], XR_002959593.1:n.273CAA[1], XM_047449029.1:c.138CAA[1], XR_007095741.1:n.867CAA[1], XM_047449032.1:c.138CAA[1], NM_001145395.1:c.138CAA[1], XR_007095739.1:n.556CAA[1], XR_007095740.1:n.867CAA[1], XR_007095737.1:n.193CAA[1], XM_047449030.1:c.138CAA[1], XR_007095738.1:n.193CAA[1], XR_007095743.1:n.193CAA[1], XR_007095736.1:n.193CAA[1], XR_007095742.1:n.193CAA[1], XM_047449031.1:c.138CAA[1], XM_047449033.1:c.138CAA[1], XR_007095750.1:n.556CAA[1], XM_047449034.1:c.138CAA[1], XR_007095744.1:n.193CAA[1], XR_007095745.1:n.193CAA[1], XR_007095746.1:n.193CAA[1], XR_007095747.1:n.193CAA[1], XR_007095748.1:n.193CAA[1], XR_007095749.1:n.193CAA[1], XR_007095751.1:n.193CAA[1], NP_079541.1:p.Asn48del, NP_001138865.1:p.Asn48del, NP_001308208.1:p.Asn48del, NP_001138864.1:p.Asn48del, NP_001308206.1:p.Asn48del, NP_001138866.1:p.Asn48del, NP_001308207.1:p.Asn48del, XP_016862785.1:p.Asn48del, XP_016862784.1:p.Asn48del, XP_016862782.1:p.Asn48del, XP_016862783.1:p.Asn48del, XP_016862781.1:p.Asn48del, XP_024309553.1:p.Asn48del, XP_047304985.1:p.Asn48del, XP_047304988.1:p.Asn48del, XP_047304986.1:p.Asn48del, XP_047304987.1:p.Asn48del, XP_047304989.1:p.Asn48del, XP_047304990.1:p.Asn48del

                              15.

                              rs1461432454 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:12489821 (GRCh38)
                                3:12531320 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:12489820:T:C
                                Gene:
                                TSEN2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000003.12:g.12489821T>C, NC_000003.11:g.12531320T>C, NG_011521.2:g.10390T>C, NM_025265.4:c.21T>C, NM_025265.3:c.21T>C, NM_001145393.3:c.21T>C, NM_001145393.2:c.21T>C, NM_001145393.1:c.21T>C, NM_001321279.2:c.21T>C, NM_001321279.1:c.21T>C, NM_001145392.2:c.21T>C, NM_001145392.1:c.21T>C, NM_001321277.2:c.21T>C, NM_001321277.1:c.21T>C, NM_001145394.2:c.21T>C, NM_001145394.1:c.21T>C, NR_135607.2:n.76T>C, NR_135607.1:n.124T>C, NM_001321278.2:c.21T>C, NM_001321278.1:c.21T>C, XM_017007296.3:c.21T>C, XM_017007296.2:c.21T>C, XM_017007296.1:c.21T>C, XM_017007295.3:c.21T>C, XM_017007295.2:c.21T>C, XM_017007295.1:c.21T>C, XR_001740289.3:n.439T>C, XR_001740289.2:n.408T>C, XR_001740289.1:n.408T>C, XR_001740290.3:n.76T>C, XR_001740290.2:n.100T>C, XR_001740290.1:n.124T>C, XM_017007293.2:c.21T>C, XM_017007293.1:c.21T>C, XM_017007294.2:c.21T>C, XM_017007294.1:c.21T>C, XM_017007292.2:c.21T>C, XM_017007292.1:c.21T>C, XM_024453785.2:c.21T>C, XM_024453785.1:c.21T>C, XR_001740291.2:n.439T>C, XR_001740291.1:n.408T>C, XR_002959592.2:n.187T>C, XR_002959592.1:n.142T>C, XR_002959593.2:n.187T>C, XR_002959593.1:n.156T>C, XM_047449029.1:c.21T>C, XR_007095741.1:n.750T>C, XM_047449032.1:c.21T>C, NM_001145395.1:c.21T>C, XR_007095739.1:n.439T>C, XR_007095740.1:n.750T>C, XR_007095737.1:n.76T>C, XM_047449030.1:c.21T>C, XR_007095738.1:n.76T>C, XR_007095743.1:n.76T>C, XR_007095736.1:n.76T>C, XR_007095742.1:n.76T>C, XM_047449031.1:c.21T>C, XM_047449033.1:c.21T>C, XR_007095750.1:n.439T>C, XM_047449034.1:c.21T>C, XR_007095744.1:n.76T>C, XR_007095745.1:n.76T>C, XR_007095746.1:n.76T>C, XR_007095747.1:n.76T>C, XR_007095748.1:n.76T>C, XR_007095749.1:n.76T>C, XR_007095751.1:n.76T>C

                                16.

                                rs1454912673 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:12489852 (GRCh38)
                                  3:12531351 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:12489851:A:G
                                  Gene:
                                  TSEN2 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000003.12:g.12489852A>G, NC_000003.11:g.12531351A>G, NG_011521.2:g.10421A>G, NM_025265.4:c.52A>G, NM_025265.3:c.52A>G, NM_001145393.3:c.52A>G, NM_001145393.2:c.52A>G, NM_001145393.1:c.52A>G, NM_001321279.2:c.52A>G, NM_001321279.1:c.52A>G, NM_001145392.2:c.52A>G, NM_001145392.1:c.52A>G, NM_001321277.2:c.52A>G, NM_001321277.1:c.52A>G, NM_001145394.2:c.52A>G, NM_001145394.1:c.52A>G, NR_135607.2:n.107A>G, NR_135607.1:n.155A>G, NM_001321278.2:c.52A>G, NM_001321278.1:c.52A>G, XM_017007296.3:c.52A>G, XM_017007296.2:c.52A>G, XM_017007296.1:c.52A>G, XM_017007295.3:c.52A>G, XM_017007295.2:c.52A>G, XM_017007295.1:c.52A>G, XR_001740289.3:n.470A>G, XR_001740289.2:n.439A>G, XR_001740289.1:n.439A>G, XR_001740290.3:n.107A>G, XR_001740290.2:n.131A>G, XR_001740290.1:n.155A>G, XM_017007293.2:c.52A>G, XM_017007293.1:c.52A>G, XM_017007294.2:c.52A>G, XM_017007294.1:c.52A>G, XM_017007292.2:c.52A>G, XM_017007292.1:c.52A>G, XM_024453785.2:c.52A>G, XM_024453785.1:c.52A>G, XR_001740291.2:n.470A>G, XR_001740291.1:n.439A>G, XR_002959592.2:n.218A>G, XR_002959592.1:n.173A>G, XR_002959593.2:n.218A>G, XR_002959593.1:n.187A>G, XM_047449029.1:c.52A>G, XR_007095741.1:n.781A>G, XM_047449032.1:c.52A>G, NM_001145395.1:c.52A>G, XR_007095739.1:n.470A>G, XR_007095740.1:n.781A>G, XR_007095737.1:n.107A>G, XM_047449030.1:c.52A>G, XR_007095738.1:n.107A>G, XR_007095743.1:n.107A>G, XR_007095736.1:n.107A>G, XR_007095742.1:n.107A>G, XM_047449031.1:c.52A>G, XM_047449033.1:c.52A>G, XR_007095750.1:n.470A>G, XM_047449034.1:c.52A>G, XR_007095744.1:n.107A>G, XR_007095745.1:n.107A>G, XR_007095746.1:n.107A>G, XR_007095747.1:n.107A>G, XR_007095748.1:n.107A>G, XR_007095749.1:n.107A>G, XR_007095751.1:n.107A>G, NP_079541.1:p.Thr18Ala, NP_001138865.1:p.Thr18Ala, NP_001308208.1:p.Thr18Ala, NP_001138864.1:p.Thr18Ala, NP_001308206.1:p.Thr18Ala, NP_001138866.1:p.Thr18Ala, NP_001308207.1:p.Thr18Ala, XP_016862785.1:p.Thr18Ala, XP_016862784.1:p.Thr18Ala, XP_016862782.1:p.Thr18Ala, XP_016862783.1:p.Thr18Ala, XP_016862781.1:p.Thr18Ala, XP_024309553.1:p.Thr18Ala, XP_047304985.1:p.Thr18Ala, XP_047304988.1:p.Thr18Ala, XP_047304986.1:p.Thr18Ala, XP_047304987.1:p.Thr18Ala, XP_047304989.1:p.Thr18Ala, XP_047304990.1:p.Thr18Ala

                                  17.

                                  rs1454883640 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    3:12503704 (GRCh38)
                                    3:12545203 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:12503703:A:C
                                    Gene:
                                    TSEN2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.12503704A>C, NC_000003.11:g.12545203A>C, NG_011521.2:g.24273A>C, NM_025265.4:c.751A>C, NM_025265.3:c.751A>C, NM_001145393.3:c.751A>C, NM_001145393.2:c.751A>C, NM_001145393.1:c.751A>C, NM_001321279.2:c.751A>C, NM_001321279.1:c.751A>C, NM_001145392.2:c.751A>C, NM_001145392.1:c.751A>C, NM_001321277.2:c.751A>C, NM_001321277.1:c.751A>C, NM_001145394.2:c.574A>C, NM_001145394.1:c.574A>C, NR_135607.2:n.806A>C, NR_135607.1:n.854A>C, NM_001321278.2:c.751A>C, NM_001321278.1:c.751A>C, XM_011534139.4:c.478A>C, XM_011534139.3:c.478A>C, XM_011534139.2:c.478A>C, XM_011534139.1:c.478A>C, XM_017007296.3:c.751A>C, XM_017007296.2:c.751A>C, XM_017007296.1:c.751A>C, XM_017007295.3:c.808A>C, XM_017007295.2:c.808A>C, XM_017007295.1:c.808A>C, XR_001740289.3:n.1169A>C, XR_001740289.2:n.1138A>C, XR_001740289.1:n.1138A>C, XR_001740290.3:n.806A>C, XR_001740290.2:n.830A>C, XR_001740290.1:n.854A>C, XM_017007293.2:c.808A>C, XM_017007293.1:c.808A>C, XM_017007294.2:c.808A>C, XM_017007294.1:c.808A>C, XM_017007292.2:c.808A>C, XM_017007292.1:c.808A>C, XM_024453785.2:c.751A>C, XM_024453785.1:c.751A>C, XR_001740291.2:n.1169A>C, XR_001740291.1:n.1138A>C, XR_002959592.2:n.974A>C, XR_002959592.1:n.929A>C, XR_002959593.2:n.917A>C, XR_002959593.1:n.886A>C, XM_047449029.1:c.751A>C, XR_007095741.1:n.1480A>C, XM_047449032.1:c.751A>C, NM_001145395.1:c.751A>C, XR_007095739.1:n.1169A>C, XR_007095740.1:n.1480A>C, XR_007095737.1:n.863A>C, XM_047449030.1:c.808A>C, XR_007095738.1:n.806A>C, XR_007095743.1:n.806A>C, XR_007095736.1:n.863A>C, XR_007095742.1:n.863A>C, XM_047449031.1:c.808A>C, XM_047449033.1:c.751A>C, XR_007095750.1:n.1169A>C, XM_047449034.1:c.751A>C, XR_007095744.1:n.863A>C, XR_007095745.1:n.806A>C, XR_007095746.1:n.806A>C, XR_007095747.1:n.863A>C, XR_007095748.1:n.863A>C, XR_007095749.1:n.806A>C, XR_007095751.1:n.806A>C

                                    18.

                                    rs1452767038 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      3:12529834 (GRCh38)
                                      3:12571333 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:12529833:C:G
                                      Gene:
                                      TSEN2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_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_000003.12:g.12529834C>G, NC_000003.11:g.12571333C>G, NG_011521.2:g.50403C>G, NM_025265.4:c.1209C>G, NM_025265.3:c.1209C>G, NM_001145393.3:c.1131C>G, NM_001145393.2:c.1131C>G, NM_001145393.1:c.1131C>G, NM_001321279.2:c.1131C>G, NM_001321279.1:c.1131C>G, NM_001145392.2:c.1209C>G, NM_001145392.1:c.1209C>G, NM_001321277.2:c.1209C>G, NM_001321277.1:c.1209C>G, NM_001145394.2:c.1032C>G, NM_001145394.1:c.1032C>G, NR_135607.2:n.1264C>G, NR_135607.1:n.1312C>G, NM_001321278.2:c.1209C>G, NM_001321278.1:c.1209C>G, XM_011534139.4:c.936C>G, XM_011534139.3:c.936C>G, XM_011534139.2:c.936C>G, XM_011534139.1:c.936C>G, XM_017007296.3:c.1209C>G, XM_017007296.2:c.1209C>G, XM_017007296.1:c.1209C>G, XM_017007295.3:c.1266C>G, XM_017007295.2:c.1266C>G, XM_017007295.1:c.1266C>G, XR_001740289.3:n.1627C>G, XR_001740289.2:n.1596C>G, XR_001740289.1:n.1596C>G, XR_001740290.3:n.1186C>G, XR_001740290.2:n.1210C>G, XR_001740290.1:n.1234C>G, XM_017007293.2:c.1266C>G, XM_017007293.1:c.1266C>G, XM_017007294.2:c.1266C>G, XM_017007294.1:c.1266C>G, XM_017007292.2:c.1266C>G, XM_017007292.1:c.1266C>G, XM_024453785.2:c.1131C>G, XM_024453785.1:c.1131C>G, XR_001740291.2:n.1549C>G, XR_001740291.1:n.1518C>G, XR_002959592.2:n.1432C>G, XR_002959592.1:n.1387C>G, XR_002959593.2:n.1375C>G, XR_002959593.1:n.1344C>G, XM_047449029.1:c.1209C>G, XR_007095741.1:n.1938C>G, XM_047449032.1:c.1131C>G, NM_001145395.1:c.1131C>G, XR_007095739.1:n.1627C>G, XR_007095740.1:n.1938C>G, XR_007095737.1:n.1321C>G, XM_047449030.1:c.1188C>G, XR_007095738.1:n.1264C>G, XR_007095743.1:n.1186C>G, XR_007095736.1:n.1321C>G, XR_007095742.1:n.1243C>G, XM_047449031.1:c.1266C>G, XM_047449033.1:c.1209C>G, XR_007095750.1:n.1437C>G, XM_047449034.1:c.1131C>G, XR_007095744.1:n.1284C>G, XR_007095745.1:n.1227C>G, XR_007095746.1:n.1149C>G, XR_007095747.1:n.1131C>G, XR_007095749.1:n.1074C>G

                                      19.

                                      rs1451522637 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        3:12531614 (GRCh38)
                                        3:12573113 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:12531613:C:A
                                        Gene:
                                        TSEN2 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,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_000003.12:g.12531614C>A, NC_000003.11:g.12573113C>A, NG_011521.2:g.52183C>A, NM_025265.4:c.1293C>A, NM_025265.3:c.1293C>A, NM_001145393.3:c.1215C>A, NM_001145393.2:c.1215C>A, NM_001145393.1:c.1215C>A, NM_001321279.2:c.1215C>A, NM_001321279.1:c.1215C>A, NM_001145392.2:c.1293C>A, NM_001145392.1:c.1293C>A, NM_001321277.2:c.1293C>A, NM_001321277.1:c.1293C>A, NM_001145394.2:c.1116C>A, NM_001145394.1:c.1116C>A, NR_135607.2:n.1348C>A, NR_135607.1:n.1396C>A, NM_001321278.2:c.1293C>A, NM_001321278.1:c.1293C>A, XM_011534139.4:c.1020C>A, XM_011534139.3:c.1020C>A, XM_011534139.2:c.1020C>A, XM_011534139.1:c.1020C>A, XM_017007296.3:c.1293C>A, XM_017007296.2:c.1293C>A, XM_017007296.1:c.1293C>A, XM_017007295.3:c.1350C>A, XM_017007295.2:c.1350C>A, XM_017007295.1:c.1350C>A, XR_001740289.3:n.1711C>A, XR_001740289.2:n.1680C>A, XR_001740289.1:n.1680C>A, XR_001740290.3:n.1270C>A, XR_001740290.2:n.1294C>A, XR_001740290.1:n.1318C>A, XM_017007293.2:c.1350C>A, XM_017007293.1:c.1350C>A, XM_017007294.2:c.1350C>A, XM_017007294.1:c.1350C>A, XM_017007292.2:c.1350C>A, XM_017007292.1:c.1350C>A, XM_024453785.2:c.1215C>A, XM_024453785.1:c.1215C>A, XR_001740291.2:n.1633C>A, XR_001740291.1:n.1602C>A, XR_002959592.2:n.1516C>A, XR_002959592.1:n.1471C>A, XR_002959593.2:n.1459C>A, XR_002959593.1:n.1428C>A, XM_047449029.1:c.1293C>A, XR_007095741.1:n.2022C>A, XM_047449032.1:c.1215C>A, XR_007095739.1:n.1711C>A, XR_007095740.1:n.2022C>A, XR_007095737.1:n.1405C>A, XM_047449030.1:c.1272C>A, XR_007095738.1:n.1348C>A, XR_007095743.1:n.1270C>A, XR_007095736.1:n.1405C>A, XR_007095742.1:n.1327C>A, XR_007095750.1:n.1521C>A, XR_007095744.1:n.1368C>A, XR_007095745.1:n.1311C>A, XR_007095746.1:n.1233C>A, XR_007095747.1:n.1215C>A, XR_007095749.1:n.1158C>A, NP_079541.1:p.Asp431Glu, NP_001138865.1:p.Asp405Glu, NP_001308208.1:p.Asp405Glu, NP_001138864.1:p.Asp431Glu, NP_001308206.1:p.Asp431Glu, NP_001138866.1:p.Asp372Glu, NP_001308207.1:p.Asp431Glu, XP_011532441.1:p.Asp340Glu, XP_016862785.1:p.Asp431Glu, XP_016862784.1:p.Asp450Glu, XP_016862782.1:p.Asp450Glu, XP_016862783.1:p.Asp450Glu, XP_016862781.1:p.Asp450Glu, XP_024309553.1:p.Asp405Glu, XP_047304985.1:p.Asp431Glu, XP_047304988.1:p.Asp405Glu, XP_047304986.1:p.Asp424Glu

                                        20.

                                        rs1447695502 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:12532708 (GRCh38)
                                          3:12574207 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:12532707:A:G
                                          Gene:
                                          TSEN2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000003.12:g.12532708A>G, NC_000003.11:g.12574207A>G, NG_011521.2:g.53277A>G, NM_025265.4:c.1385A>G, NM_025265.3:c.1385A>G, NM_001145393.3:c.1307A>G, NM_001145393.2:c.1307A>G, NM_001145393.1:c.1307A>G, NM_001321279.2:c.1307A>G, NM_001321279.1:c.1307A>G, NM_001145392.2:c.1385A>G, NM_001145392.1:c.1385A>G, NM_001321277.2:c.1385A>G, NM_001321277.1:c.1385A>G, NM_001145394.2:c.1208A>G, NM_001145394.1:c.1208A>G, NR_135607.2:n.1440A>G, NR_135607.1:n.1488A>G, XM_011534139.4:c.1112A>G, XM_011534139.3:c.1112A>G, XM_011534139.2:c.1112A>G, XM_011534139.1:c.1112A>G, XM_017007296.3:c.1385A>G, XM_017007296.2:c.1385A>G, XM_017007296.1:c.1385A>G, XM_017007295.3:c.1442A>G, XM_017007295.2:c.1442A>G, XM_017007295.1:c.1442A>G, XR_001740289.3:n.1803A>G, XR_001740289.2:n.1772A>G, XR_001740289.1:n.1772A>G, XR_001740290.3:n.1362A>G, XR_001740290.2:n.1386A>G, XR_001740290.1:n.1410A>G, XM_017007293.2:c.1442A>G, XM_017007293.1:c.1442A>G, XM_017007294.2:c.1442A>G, XM_017007294.1:c.1442A>G, XM_017007292.2:c.1442A>G, XM_017007292.1:c.1442A>G, XM_024453785.2:c.1307A>G, XM_024453785.1:c.1307A>G, XR_001740291.2:n.1725A>G, XR_001740291.1:n.1694A>G, XR_002959592.2:n.1608A>G, XR_002959592.1:n.1563A>G, XR_002959593.2:n.1551A>G, XR_002959593.1:n.1520A>G, XM_047449029.1:c.1385A>G, XR_007095741.1:n.2114A>G, XM_047449032.1:c.1307A>G, XR_007095739.1:n.1803A>G, XR_007095740.1:n.2114A>G, XR_007095737.1:n.1497A>G, XM_047449030.1:c.1364A>G, XR_007095738.1:n.1440A>G, XR_007095743.1:n.1362A>G, XR_007095736.1:n.1497A>G, XR_007095742.1:n.1419A>G, NP_079541.1:p.Gln462Arg, NP_001138865.1:p.Gln436Arg, NP_001308208.1:p.Gln436Arg, NP_001138864.1:p.Gln462Arg, NP_001308206.1:p.Gln462Arg, NP_001138866.1:p.Gln403Arg, XP_011532441.1:p.Gln371Arg, XP_016862785.1:p.Gln462Arg, XP_016862784.1:p.Gln481Arg, XP_016862782.1:p.Gln481Arg, XP_016862783.1:p.Gln481Arg, XP_016862781.1:p.Gln481Arg, XP_024309553.1:p.Gln436Arg, XP_047304985.1:p.Gln462Arg, XP_047304988.1:p.Gln436Arg, XP_047304986.1:p.Gln455Arg

                                          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...