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Items: 1 to 20 of 734

1.

rs1489697517 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:55237412 (GRCh38)
    2:55464548 (GRCh37)
    Canonical SPDI:
    NC_000002.12:55237411:T:C
    Gene:
    MTIF2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    HGVS:
    NC_000002.12:g.55237412T>C, NC_000002.11:g.55464548T>C, NG_033063.1:g.152A>G, NG_047062.1:g.36892A>G, NM_002453.3:c.1887A>G, NM_002453.2:c.1887A>G, NM_001005369.1:c.1887A>G, NM_001321004.1:c.1887A>G, NM_001321003.1:c.1887A>G, NM_001321001.1:c.1887A>G, NM_001321002.1:c.1887A>G, NM_001321005.1:c.1158A>G, NG_017017.1:g.10484T>C, XM_017004162.3:c.1887A>G, XM_017004162.2:c.1887A>G, XM_017004162.1:c.1887A>G, XM_011532871.3:c.1887A>G, XM_011532871.2:c.1887A>G, XM_011532871.1:c.1887A>G, XM_017004164.3:c.1710A>G, XM_017004164.2:c.1710A>G, XM_017004164.1:c.1710A>G, XM_017004163.2:c.1887A>G, XM_017004163.1:c.1887A>G, XM_047444423.1:c.1887A>G, XM_047444430.1:c.1710A>G, XM_047444425.1:c.1887A>G, XM_047444426.1:c.1710A>G, XM_047444429.1:c.1710A>G, XM_047444424.1:c.1887A>G, XM_047444427.1:c.1710A>G, XM_047444428.1:c.1710A>G, XM_047444431.1:c.1710A>G, XM_047444432.1:c.1599A>G, XM_047444433.1:c.1599A>G

    2.

    rs1488795163 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      2:55249411 (GRCh38)
      2:55476547 (GRCh37)
      Canonical SPDI:
      NC_000002.12:55249410:G:A,NC_000002.12:55249410:G:C
      Gene:
      MTIF2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      A=0.000071/1 (TOMMO)
      HGVS:
      NC_000002.12:g.55249411G>A, NC_000002.12:g.55249411G>C, NC_000002.11:g.55476547G>A, NC_000002.11:g.55476547G>C, NG_047062.1:g.24893C>T, NG_047062.1:g.24893C>G, NM_002453.3:c.965C>T, NM_002453.3:c.965C>G, NM_002453.2:c.965C>T, NM_002453.2:c.965C>G, NM_001005369.1:c.965C>T, NM_001005369.1:c.965C>G, NM_001321004.1:c.965C>T, NM_001321004.1:c.965C>G, NM_001321003.1:c.965C>T, NM_001321003.1:c.965C>G, NM_001321001.1:c.965C>T, NM_001321001.1:c.965C>G, NM_001321002.1:c.965C>T, NM_001321002.1:c.965C>G, NM_001321005.1:c.236C>T, NM_001321005.1:c.236C>G, XM_017004162.3:c.965C>T, XM_017004162.3:c.965C>G, XM_017004162.2:c.965C>T, XM_017004162.2:c.965C>G, XM_017004162.1:c.965C>T, XM_017004162.1:c.965C>G, XM_011532871.3:c.965C>T, XM_011532871.3:c.965C>G, XM_011532871.2:c.965C>T, XM_011532871.2:c.965C>G, XM_011532871.1:c.965C>T, XM_011532871.1:c.965C>G, XM_017004164.3:c.788C>T, XM_017004164.3:c.788C>G, XM_017004164.2:c.788C>T, XM_017004164.2:c.788C>G, XM_017004164.1:c.788C>T, XM_017004164.1:c.788C>G, XM_017004163.2:c.965C>T, XM_017004163.2:c.965C>G, XM_017004163.1:c.965C>T, XM_017004163.1:c.965C>G, XM_047444423.1:c.965C>T, XM_047444423.1:c.965C>G, XM_047444430.1:c.788C>T, XM_047444430.1:c.788C>G, XM_047444425.1:c.965C>T, XM_047444425.1:c.965C>G, XM_047444426.1:c.788C>T, XM_047444426.1:c.788C>G, XM_047444429.1:c.788C>T, XM_047444429.1:c.788C>G, XM_047444424.1:c.965C>T, XM_047444424.1:c.965C>G, XM_047444427.1:c.788C>T, XM_047444427.1:c.788C>G, XM_047444428.1:c.788C>T, XM_047444428.1:c.788C>G, XM_047444431.1:c.788C>T, XM_047444431.1:c.788C>G, XM_047444432.1:c.677C>T, XM_047444432.1:c.677C>G, XM_047444433.1:c.677C>T, XM_047444433.1:c.677C>G, NP_002444.2:p.Pro322Leu, NP_002444.2:p.Pro322Arg, NP_001005369.1:p.Pro322Leu, NP_001005369.1:p.Pro322Arg, NP_001307933.1:p.Pro322Leu, NP_001307933.1:p.Pro322Arg, NP_001307932.1:p.Pro322Leu, NP_001307932.1:p.Pro322Arg, NP_001307930.1:p.Pro322Leu, NP_001307930.1:p.Pro322Arg, NP_001307931.1:p.Pro322Leu, NP_001307931.1:p.Pro322Arg, NP_001307934.1:p.Pro79Leu, NP_001307934.1:p.Pro79Arg, XP_016859651.1:p.Pro322Leu, XP_016859651.1:p.Pro322Arg, XP_011531173.1:p.Pro322Leu, XP_011531173.1:p.Pro322Arg, XP_016859653.1:p.Pro263Leu, XP_016859653.1:p.Pro263Arg, XP_016859652.1:p.Pro322Leu, XP_016859652.1:p.Pro322Arg, XP_047300379.1:p.Pro322Leu, XP_047300379.1:p.Pro322Arg, XP_047300386.1:p.Pro263Leu, XP_047300386.1:p.Pro263Arg, XP_047300381.1:p.Pro322Leu, XP_047300381.1:p.Pro322Arg, XP_047300382.1:p.Pro263Leu, XP_047300382.1:p.Pro263Arg, XP_047300385.1:p.Pro263Leu, XP_047300385.1:p.Pro263Arg, XP_047300380.1:p.Pro322Leu, XP_047300380.1:p.Pro322Arg, XP_047300383.1:p.Pro263Leu, XP_047300383.1:p.Pro263Arg, XP_047300384.1:p.Pro263Leu, XP_047300384.1:p.Pro263Arg, XP_047300387.1:p.Pro263Leu, XP_047300387.1:p.Pro263Arg, XP_047300388.1:p.Pro226Leu, XP_047300388.1:p.Pro226Arg, XP_047300389.1:p.Pro226Leu, XP_047300389.1:p.Pro226Arg

      3.

      rs1488637516 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:55263782 (GRCh38)
        2:55490918 (GRCh37)
        Canonical SPDI:
        NC_000002.12:55263781:T:C
        Gene:
        MTIF2 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.55263782T>C, NC_000002.11:g.55490918T>C, NG_047062.1:g.10522A>G, NM_002453.3:c.77A>G, NM_002453.2:c.77A>G, NM_001005369.1:c.77A>G, NM_001321004.1:c.77A>G, NM_001321003.1:c.77A>G, NM_001321001.1:c.77A>G, NM_001321002.1:c.77A>G, NM_001321005.1:c.-492A>G, XM_017004162.3:c.77A>G, XM_017004162.2:c.77A>G, XM_017004162.1:c.77A>G, XM_011532871.3:c.77A>G, XM_011532871.2:c.77A>G, XM_011532871.1:c.77A>G, XM_017004164.3:c.77A>G, XM_017004164.2:c.77A>G, XM_017004164.1:c.77A>G, XM_017004163.2:c.77A>G, XM_017004163.1:c.77A>G, XM_047444423.1:c.77A>G, XM_047444430.1:c.77A>G, XM_047444425.1:c.77A>G, XM_047444426.1:c.77A>G, XM_047444429.1:c.77A>G, XM_047444424.1:c.77A>G, XM_047444427.1:c.77A>G, XM_047444428.1:c.77A>G, XM_047444431.1:c.77A>G, NP_002444.2:p.Gln26Arg, NP_001005369.1:p.Gln26Arg, NP_001307933.1:p.Gln26Arg, NP_001307932.1:p.Gln26Arg, NP_001307930.1:p.Gln26Arg, NP_001307931.1:p.Gln26Arg, XP_016859651.1:p.Gln26Arg, XP_011531173.1:p.Gln26Arg, XP_016859653.1:p.Gln26Arg, XP_016859652.1:p.Gln26Arg, XP_047300379.1:p.Gln26Arg, XP_047300386.1:p.Gln26Arg, XP_047300381.1:p.Gln26Arg, XP_047300382.1:p.Gln26Arg, XP_047300385.1:p.Gln26Arg, XP_047300380.1:p.Gln26Arg, XP_047300383.1:p.Gln26Arg, XP_047300384.1:p.Gln26Arg, XP_047300387.1:p.Gln26Arg

        4.

        rs1488464606 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          2:55240156 (GRCh38)
          2:55467292 (GRCh37)
          Canonical SPDI:
          NC_000002.12:55240155:A:C,NC_000002.12:55240155:A:G
          Gene:
          MTIF2 (Varview)
          Functional Consequence:
          synonymous_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000028/1 (ALFA)
          G=0.00006/15 (GnomAD_exomes)
          G=0.000162/43 (TOPMED)
          G=0.000171/24 (GnomAD)
          HGVS:
          NC_000002.12:g.55240156A>C, NC_000002.12:g.55240156A>G, NC_000002.11:g.55467292A>C, NC_000002.11:g.55467292A>G, NG_047062.1:g.34148T>G, NG_047062.1:g.34148T>C, NM_002453.3:c.1725T>G, NM_002453.3:c.1725T>C, NM_002453.2:c.1725T>G, NM_002453.2:c.1725T>C, NM_001005369.1:c.1725T>G, NM_001005369.1:c.1725T>C, NM_001321004.1:c.1725T>G, NM_001321004.1:c.1725T>C, NM_001321003.1:c.1725T>G, NM_001321003.1:c.1725T>C, NM_001321001.1:c.1725T>G, NM_001321001.1:c.1725T>C, NM_001321002.1:c.1725T>G, NM_001321002.1:c.1725T>C, NM_001321005.1:c.996T>G, NM_001321005.1:c.996T>C, XM_017004162.3:c.1725T>G, XM_017004162.3:c.1725T>C, XM_017004162.2:c.1725T>G, XM_017004162.2:c.1725T>C, XM_017004162.1:c.1725T>G, XM_017004162.1:c.1725T>C, XM_011532871.3:c.1725T>G, XM_011532871.3:c.1725T>C, XM_011532871.2:c.1725T>G, XM_011532871.2:c.1725T>C, XM_011532871.1:c.1725T>G, XM_011532871.1:c.1725T>C, XM_017004164.3:c.1548T>G, XM_017004164.3:c.1548T>C, XM_017004164.2:c.1548T>G, XM_017004164.2:c.1548T>C, XM_017004164.1:c.1548T>G, XM_017004164.1:c.1548T>C, XM_017004163.2:c.1725T>G, XM_017004163.2:c.1725T>C, XM_017004163.1:c.1725T>G, XM_017004163.1:c.1725T>C, XM_047444423.1:c.1725T>G, XM_047444423.1:c.1725T>C, XM_047444430.1:c.1548T>G, XM_047444430.1:c.1548T>C, XM_047444425.1:c.1725T>G, XM_047444425.1:c.1725T>C, XM_047444426.1:c.1548T>G, XM_047444426.1:c.1548T>C, XM_047444429.1:c.1548T>G, XM_047444429.1:c.1548T>C, XM_047444424.1:c.1725T>G, XM_047444424.1:c.1725T>C, XM_047444427.1:c.1548T>G, XM_047444427.1:c.1548T>C, XM_047444428.1:c.1548T>G, XM_047444428.1:c.1548T>C, XM_047444431.1:c.1548T>G, XM_047444431.1:c.1548T>C, XM_047444432.1:c.1437T>G, XM_047444432.1:c.1437T>C, XM_047444433.1:c.1437T>G, XM_047444433.1:c.1437T>C, NP_002444.2:p.Asn575Lys, NP_001005369.1:p.Asn575Lys, NP_001307933.1:p.Asn575Lys, NP_001307932.1:p.Asn575Lys, NP_001307930.1:p.Asn575Lys, NP_001307931.1:p.Asn575Lys, NP_001307934.1:p.Asn332Lys, XP_016859651.1:p.Asn575Lys, XP_011531173.1:p.Asn575Lys, XP_016859653.1:p.Asn516Lys, XP_016859652.1:p.Asn575Lys, XP_047300379.1:p.Asn575Lys, XP_047300386.1:p.Asn516Lys, XP_047300381.1:p.Asn575Lys, XP_047300382.1:p.Asn516Lys, XP_047300385.1:p.Asn516Lys, XP_047300380.1:p.Asn575Lys, XP_047300383.1:p.Asn516Lys, XP_047300384.1:p.Asn516Lys, XP_047300387.1:p.Asn516Lys, XP_047300388.1:p.Asn479Lys, XP_047300389.1:p.Asn479Lys

          5.

          rs1488140038 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            2:55243432 (GRCh38)
            2:55470568 (GRCh37)
            Canonical SPDI:
            NC_000002.12:55243431:A:C,NC_000002.12:55243431:A:G
            Gene:
            MTIF2 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            C=0.000035/1 (TOMMO)
            HGVS:
            NC_000002.12:g.55243432A>C, NC_000002.12:g.55243432A>G, NC_000002.11:g.55470568A>C, NC_000002.11:g.55470568A>G, NG_047062.1:g.30872T>G, NG_047062.1:g.30872T>C, NM_002453.3:c.1548T>G, NM_002453.3:c.1548T>C, NM_002453.2:c.1548T>G, NM_002453.2:c.1548T>C, NM_001005369.1:c.1548T>G, NM_001005369.1:c.1548T>C, NM_001321004.1:c.1548T>G, NM_001321004.1:c.1548T>C, NM_001321003.1:c.1548T>G, NM_001321003.1:c.1548T>C, NM_001321001.1:c.1548T>G, NM_001321001.1:c.1548T>C, NM_001321002.1:c.1548T>G, NM_001321002.1:c.1548T>C, NM_001321005.1:c.819T>G, NM_001321005.1:c.819T>C, XM_017004162.3:c.1548T>G, XM_017004162.3:c.1548T>C, XM_017004162.2:c.1548T>G, XM_017004162.2:c.1548T>C, XM_017004162.1:c.1548T>G, XM_017004162.1:c.1548T>C, XM_011532871.3:c.1548T>G, XM_011532871.3:c.1548T>C, XM_011532871.2:c.1548T>G, XM_011532871.2:c.1548T>C, XM_011532871.1:c.1548T>G, XM_011532871.1:c.1548T>C, XM_017004164.3:c.1371T>G, XM_017004164.3:c.1371T>C, XM_017004164.2:c.1371T>G, XM_017004164.2:c.1371T>C, XM_017004164.1:c.1371T>G, XM_017004164.1:c.1371T>C, XM_017004163.2:c.1548T>G, XM_017004163.2:c.1548T>C, XM_017004163.1:c.1548T>G, XM_017004163.1:c.1548T>C, XM_047444423.1:c.1548T>G, XM_047444423.1:c.1548T>C, XM_047444430.1:c.1371T>G, XM_047444430.1:c.1371T>C, XM_047444425.1:c.1548T>G, XM_047444425.1:c.1548T>C, XM_047444426.1:c.1371T>G, XM_047444426.1:c.1371T>C, XM_047444429.1:c.1371T>G, XM_047444429.1:c.1371T>C, XM_047444424.1:c.1548T>G, XM_047444424.1:c.1548T>C, XM_047444427.1:c.1371T>G, XM_047444427.1:c.1371T>C, XM_047444428.1:c.1371T>G, XM_047444428.1:c.1371T>C, XM_047444431.1:c.1371T>G, XM_047444431.1:c.1371T>C, XM_047444432.1:c.1260T>G, XM_047444432.1:c.1260T>C, XM_047444433.1:c.1260T>G, XM_047444433.1:c.1260T>C

            6.

            rs1486171386 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:55246381 (GRCh38)
              2:55473517 (GRCh37)
              Canonical SPDI:
              NC_000002.12:55246380:T:C
              Gene:
              MTIF2 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.55246381T>C, NC_000002.11:g.55473517T>C, NG_047062.1:g.27923A>G, NM_002453.3:c.1062A>G, NM_002453.2:c.1062A>G, NM_001005369.1:c.1062A>G, NM_001321004.1:c.1062A>G, NM_001321003.1:c.1062A>G, NM_001321001.1:c.1062A>G, NM_001321002.1:c.1062A>G, NM_001321005.1:c.333A>G, XM_017004162.3:c.1062A>G, XM_017004162.2:c.1062A>G, XM_017004162.1:c.1062A>G, XM_011532871.3:c.1062A>G, XM_011532871.2:c.1062A>G, XM_011532871.1:c.1062A>G, XM_017004164.3:c.885A>G, XM_017004164.2:c.885A>G, XM_017004164.1:c.885A>G, XM_017004163.2:c.1062A>G, XM_017004163.1:c.1062A>G, XM_047444423.1:c.1062A>G, XM_047444430.1:c.885A>G, XM_047444425.1:c.1062A>G, XM_047444426.1:c.885A>G, XM_047444429.1:c.885A>G, XM_047444424.1:c.1062A>G, XM_047444427.1:c.885A>G, XM_047444428.1:c.885A>G, XM_047444431.1:c.885A>G, XM_047444432.1:c.774A>G, XM_047444433.1:c.774A>G

              7.

              rs1485734725 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                2:55254044 (GRCh38)
                2:55481180 (GRCh37)
                Canonical SPDI:
                NC_000002.12:55254043:G:A,NC_000002.12:55254043:G:C
                Gene:
                MTIF2 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.55254044G>A, NC_000002.12:g.55254044G>C, NC_000002.11:g.55481180G>A, NC_000002.11:g.55481180G>C, NG_047062.1:g.20260C>T, NG_047062.1:g.20260C>G, NM_002453.3:c.661C>T, NM_002453.3:c.661C>G, NM_002453.2:c.661C>T, NM_002453.2:c.661C>G, NM_001005369.1:c.661C>T, NM_001005369.1:c.661C>G, NM_001321004.1:c.661C>T, NM_001321004.1:c.661C>G, NM_001321003.1:c.661C>T, NM_001321003.1:c.661C>G, NM_001321001.1:c.661C>T, NM_001321001.1:c.661C>G, NM_001321002.1:c.661C>T, NM_001321002.1:c.661C>G, XM_017004162.3:c.661C>T, XM_017004162.3:c.661C>G, XM_017004162.2:c.661C>T, XM_017004162.2:c.661C>G, XM_017004162.1:c.661C>T, XM_017004162.1:c.661C>G, XM_011532871.3:c.661C>T, XM_011532871.3:c.661C>G, XM_011532871.2:c.661C>T, XM_011532871.2:c.661C>G, XM_011532871.1:c.661C>T, XM_011532871.1:c.661C>G, XM_017004164.3:c.661C>T, XM_017004164.3:c.661C>G, XM_017004164.2:c.661C>T, XM_017004164.2:c.661C>G, XM_017004164.1:c.661C>T, XM_017004164.1:c.661C>G, XM_017004163.2:c.661C>T, XM_017004163.2:c.661C>G, XM_017004163.1:c.661C>T, XM_017004163.1:c.661C>G, XM_047444423.1:c.661C>T, XM_047444423.1:c.661C>G, XM_047444430.1:c.661C>T, XM_047444430.1:c.661C>G, XM_047444425.1:c.661C>T, XM_047444425.1:c.661C>G, XM_047444426.1:c.661C>T, XM_047444426.1:c.661C>G, XM_047444429.1:c.661C>T, XM_047444429.1:c.661C>G, XM_047444424.1:c.661C>T, XM_047444424.1:c.661C>G, XM_047444427.1:c.661C>T, XM_047444427.1:c.661C>G, XM_047444428.1:c.661C>T, XM_047444428.1:c.661C>G, XM_047444431.1:c.661C>T, XM_047444431.1:c.661C>G, XM_047444432.1:c.373C>T, XM_047444432.1:c.373C>G, XM_047444433.1:c.373C>T, XM_047444433.1:c.373C>G, NP_002444.2:p.Leu221Phe, NP_002444.2:p.Leu221Val, NP_001005369.1:p.Leu221Phe, NP_001005369.1:p.Leu221Val, NP_001307933.1:p.Leu221Phe, NP_001307933.1:p.Leu221Val, NP_001307932.1:p.Leu221Phe, NP_001307932.1:p.Leu221Val, NP_001307930.1:p.Leu221Phe, NP_001307930.1:p.Leu221Val, NP_001307931.1:p.Leu221Phe, NP_001307931.1:p.Leu221Val, XP_016859651.1:p.Leu221Phe, XP_016859651.1:p.Leu221Val, XP_011531173.1:p.Leu221Phe, XP_011531173.1:p.Leu221Val, XP_016859653.1:p.Leu221Phe, XP_016859653.1:p.Leu221Val, XP_016859652.1:p.Leu221Phe, XP_016859652.1:p.Leu221Val, XP_047300379.1:p.Leu221Phe, XP_047300379.1:p.Leu221Val, XP_047300386.1:p.Leu221Phe, XP_047300386.1:p.Leu221Val, XP_047300381.1:p.Leu221Phe, XP_047300381.1:p.Leu221Val, XP_047300382.1:p.Leu221Phe, XP_047300382.1:p.Leu221Val, XP_047300385.1:p.Leu221Phe, XP_047300385.1:p.Leu221Val, XP_047300380.1:p.Leu221Phe, XP_047300380.1:p.Leu221Val, XP_047300383.1:p.Leu221Phe, XP_047300383.1:p.Leu221Val, XP_047300384.1:p.Leu221Phe, XP_047300384.1:p.Leu221Val, XP_047300387.1:p.Leu221Phe, XP_047300387.1:p.Leu221Val, XP_047300388.1:p.Leu125Phe, XP_047300388.1:p.Leu125Val, XP_047300389.1:p.Leu125Phe, XP_047300389.1:p.Leu125Val

                8.

                rs1484987008 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  2:55243064 (GRCh38)
                  2:55470200 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:55243063:A:C,NC_000002.12:55243063:A:G
                  Gene:
                  MTIF2 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000002.12:g.55243064A>C, NC_000002.12:g.55243064A>G, NC_000002.11:g.55470200A>C, NC_000002.11:g.55470200A>G, NG_047062.1:g.31240T>G, NG_047062.1:g.31240T>C, NM_002453.3:c.1581T>G, NM_002453.3:c.1581T>C, NM_002453.2:c.1581T>G, NM_002453.2:c.1581T>C, NM_001005369.1:c.1581T>G, NM_001005369.1:c.1581T>C, NM_001321004.1:c.1581T>G, NM_001321004.1:c.1581T>C, NM_001321003.1:c.1581T>G, NM_001321003.1:c.1581T>C, NM_001321001.1:c.1581T>G, NM_001321001.1:c.1581T>C, NM_001321002.1:c.1581T>G, NM_001321002.1:c.1581T>C, NM_001321005.1:c.852T>G, NM_001321005.1:c.852T>C, XM_017004162.3:c.1581T>G, XM_017004162.3:c.1581T>C, XM_017004162.2:c.1581T>G, XM_017004162.2:c.1581T>C, XM_017004162.1:c.1581T>G, XM_017004162.1:c.1581T>C, XM_011532871.3:c.1581T>G, XM_011532871.3:c.1581T>C, XM_011532871.2:c.1581T>G, XM_011532871.2:c.1581T>C, XM_011532871.1:c.1581T>G, XM_011532871.1:c.1581T>C, XM_017004164.3:c.1404T>G, XM_017004164.3:c.1404T>C, XM_017004164.2:c.1404T>G, XM_017004164.2:c.1404T>C, XM_017004164.1:c.1404T>G, XM_017004164.1:c.1404T>C, XM_017004163.2:c.1581T>G, XM_017004163.2:c.1581T>C, XM_017004163.1:c.1581T>G, XM_017004163.1:c.1581T>C, XM_047444423.1:c.1581T>G, XM_047444423.1:c.1581T>C, XM_047444430.1:c.1404T>G, XM_047444430.1:c.1404T>C, XM_047444425.1:c.1581T>G, XM_047444425.1:c.1581T>C, XM_047444426.1:c.1404T>G, XM_047444426.1:c.1404T>C, XM_047444429.1:c.1404T>G, XM_047444429.1:c.1404T>C, XM_047444424.1:c.1581T>G, XM_047444424.1:c.1581T>C, XM_047444427.1:c.1404T>G, XM_047444427.1:c.1404T>C, XM_047444428.1:c.1404T>G, XM_047444428.1:c.1404T>C, XM_047444431.1:c.1404T>G, XM_047444431.1:c.1404T>C, XM_047444432.1:c.1293T>G, XM_047444432.1:c.1293T>C, XM_047444433.1:c.1293T>G, XM_047444433.1:c.1293T>C

                  9.

                  rs1484302888 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    2:55262415 (GRCh38)
                    2:55489551 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:55262414:A:C
                    Gene:
                    MTIF2 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.55262415A>C, NC_000002.11:g.55489551A>C, NG_047062.1:g.11889T>G, NM_002453.3:c.232T>G, NM_002453.2:c.232T>G, NM_001005369.1:c.232T>G, NM_001321004.1:c.232T>G, NM_001321003.1:c.232T>G, NM_001321001.1:c.232T>G, NM_001321002.1:c.232T>G, NM_001321005.1:c.-337T>G, XM_017004162.3:c.232T>G, XM_017004162.2:c.232T>G, XM_017004162.1:c.232T>G, XM_011532871.3:c.232T>G, XM_011532871.2:c.232T>G, XM_011532871.1:c.232T>G, XM_017004164.3:c.232T>G, XM_017004164.2:c.232T>G, XM_017004164.1:c.232T>G, XM_017004163.2:c.232T>G, XM_017004163.1:c.232T>G, XM_047444423.1:c.232T>G, XM_047444430.1:c.232T>G, XM_047444425.1:c.232T>G, XM_047444426.1:c.232T>G, XM_047444429.1:c.232T>G, XM_047444424.1:c.232T>G, XM_047444427.1:c.232T>G, XM_047444428.1:c.232T>G, XM_047444431.1:c.232T>G, XM_047444432.1:c.-57T>G, XM_047444433.1:c.-57T>G, NP_002444.2:p.Trp78Gly, NP_001005369.1:p.Trp78Gly, NP_001307933.1:p.Trp78Gly, NP_001307932.1:p.Trp78Gly, NP_001307930.1:p.Trp78Gly, NP_001307931.1:p.Trp78Gly, XP_016859651.1:p.Trp78Gly, XP_011531173.1:p.Trp78Gly, XP_016859653.1:p.Trp78Gly, XP_016859652.1:p.Trp78Gly, XP_047300379.1:p.Trp78Gly, XP_047300386.1:p.Trp78Gly, XP_047300381.1:p.Trp78Gly, XP_047300382.1:p.Trp78Gly, XP_047300385.1:p.Trp78Gly, XP_047300380.1:p.Trp78Gly, XP_047300383.1:p.Trp78Gly, XP_047300384.1:p.Trp78Gly, XP_047300387.1:p.Trp78Gly

                    10.

                    rs1483887585 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      2:55249432 (GRCh38)
                      2:55476568 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:55249431:C:G,NC_000002.12:55249431:C:T
                      Gene:
                      MTIF2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000002.12:g.55249432C>G, NC_000002.12:g.55249432C>T, NC_000002.11:g.55476568C>G, NC_000002.11:g.55476568C>T, NG_047062.1:g.24872G>C, NG_047062.1:g.24872G>A, NM_002453.3:c.944G>C, NM_002453.3:c.944G>A, NM_002453.2:c.944G>C, NM_002453.2:c.944G>A, NM_001005369.1:c.944G>C, NM_001005369.1:c.944G>A, NM_001321004.1:c.944G>C, NM_001321004.1:c.944G>A, NM_001321003.1:c.944G>C, NM_001321003.1:c.944G>A, NM_001321001.1:c.944G>C, NM_001321001.1:c.944G>A, NM_001321002.1:c.944G>C, NM_001321002.1:c.944G>A, NM_001321005.1:c.215G>C, NM_001321005.1:c.215G>A, XM_017004162.3:c.944G>C, XM_017004162.3:c.944G>A, XM_017004162.2:c.944G>C, XM_017004162.2:c.944G>A, XM_017004162.1:c.944G>C, XM_017004162.1:c.944G>A, XM_011532871.3:c.944G>C, XM_011532871.3:c.944G>A, XM_011532871.2:c.944G>C, XM_011532871.2:c.944G>A, XM_011532871.1:c.944G>C, XM_011532871.1:c.944G>A, XM_017004164.3:c.767G>C, XM_017004164.3:c.767G>A, XM_017004164.2:c.767G>C, XM_017004164.2:c.767G>A, XM_017004164.1:c.767G>C, XM_017004164.1:c.767G>A, XM_017004163.2:c.944G>C, XM_017004163.2:c.944G>A, XM_017004163.1:c.944G>C, XM_017004163.1:c.944G>A, XM_047444423.1:c.944G>C, XM_047444423.1:c.944G>A, XM_047444430.1:c.767G>C, XM_047444430.1:c.767G>A, XM_047444425.1:c.944G>C, XM_047444425.1:c.944G>A, XM_047444426.1:c.767G>C, XM_047444426.1:c.767G>A, XM_047444429.1:c.767G>C, XM_047444429.1:c.767G>A, XM_047444424.1:c.944G>C, XM_047444424.1:c.944G>A, XM_047444427.1:c.767G>C, XM_047444427.1:c.767G>A, XM_047444428.1:c.767G>C, XM_047444428.1:c.767G>A, XM_047444431.1:c.767G>C, XM_047444431.1:c.767G>A, XM_047444432.1:c.656G>C, XM_047444432.1:c.656G>A, XM_047444433.1:c.656G>C, XM_047444433.1:c.656G>A, NP_002444.2:p.Gly315Ala, NP_002444.2:p.Gly315Glu, NP_001005369.1:p.Gly315Ala, NP_001005369.1:p.Gly315Glu, NP_001307933.1:p.Gly315Ala, NP_001307933.1:p.Gly315Glu, NP_001307932.1:p.Gly315Ala, NP_001307932.1:p.Gly315Glu, NP_001307930.1:p.Gly315Ala, NP_001307930.1:p.Gly315Glu, NP_001307931.1:p.Gly315Ala, NP_001307931.1:p.Gly315Glu, NP_001307934.1:p.Gly72Ala, NP_001307934.1:p.Gly72Glu, XP_016859651.1:p.Gly315Ala, XP_016859651.1:p.Gly315Glu, XP_011531173.1:p.Gly315Ala, XP_011531173.1:p.Gly315Glu, XP_016859653.1:p.Gly256Ala, XP_016859653.1:p.Gly256Glu, XP_016859652.1:p.Gly315Ala, XP_016859652.1:p.Gly315Glu, XP_047300379.1:p.Gly315Ala, XP_047300379.1:p.Gly315Glu, XP_047300386.1:p.Gly256Ala, XP_047300386.1:p.Gly256Glu, XP_047300381.1:p.Gly315Ala, XP_047300381.1:p.Gly315Glu, XP_047300382.1:p.Gly256Ala, XP_047300382.1:p.Gly256Glu, XP_047300385.1:p.Gly256Ala, XP_047300385.1:p.Gly256Glu, XP_047300380.1:p.Gly315Ala, XP_047300380.1:p.Gly315Glu, XP_047300383.1:p.Gly256Ala, XP_047300383.1:p.Gly256Glu, XP_047300384.1:p.Gly256Ala, XP_047300384.1:p.Gly256Glu, XP_047300387.1:p.Gly256Ala, XP_047300387.1:p.Gly256Glu, XP_047300388.1:p.Gly219Ala, XP_047300388.1:p.Gly219Glu, XP_047300389.1:p.Gly219Ala, XP_047300389.1:p.Gly219Glu

                      11.

                      rs1482675174 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        2:55263792 (GRCh38)
                        2:55490928 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:55263791:T:G
                        Gene:
                        MTIF2 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.55263792T>G, NC_000002.11:g.55490928T>G, NG_047062.1:g.10512A>C, NM_002453.3:c.67A>C, NM_002453.2:c.67A>C, NM_001005369.1:c.67A>C, NM_001321004.1:c.67A>C, NM_001321003.1:c.67A>C, NM_001321001.1:c.67A>C, NM_001321002.1:c.67A>C, NM_001321005.1:c.-502A>C, XM_017004162.3:c.67A>C, XM_017004162.2:c.67A>C, XM_017004162.1:c.67A>C, XM_011532871.3:c.67A>C, XM_011532871.2:c.67A>C, XM_011532871.1:c.67A>C, XM_017004164.3:c.67A>C, XM_017004164.2:c.67A>C, XM_017004164.1:c.67A>C, XM_017004163.2:c.67A>C, XM_017004163.1:c.67A>C, XM_047444423.1:c.67A>C, XM_047444430.1:c.67A>C, XM_047444425.1:c.67A>C, XM_047444426.1:c.67A>C, XM_047444429.1:c.67A>C, XM_047444424.1:c.67A>C, XM_047444427.1:c.67A>C, XM_047444428.1:c.67A>C, XM_047444431.1:c.67A>C, NP_002444.2:p.Ser23Arg, NP_001005369.1:p.Ser23Arg, NP_001307933.1:p.Ser23Arg, NP_001307932.1:p.Ser23Arg, NP_001307930.1:p.Ser23Arg, NP_001307931.1:p.Ser23Arg, XP_016859651.1:p.Ser23Arg, XP_011531173.1:p.Ser23Arg, XP_016859653.1:p.Ser23Arg, XP_016859652.1:p.Ser23Arg, XP_047300379.1:p.Ser23Arg, XP_047300386.1:p.Ser23Arg, XP_047300381.1:p.Ser23Arg, XP_047300382.1:p.Ser23Arg, XP_047300385.1:p.Ser23Arg, XP_047300380.1:p.Ser23Arg, XP_047300383.1:p.Ser23Arg, XP_047300384.1:p.Ser23Arg, XP_047300387.1:p.Ser23Arg

                        12.

                        rs1480099990 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          2:55249476 (GRCh38)
                          2:55476612 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:55249475:C:G
                          Gene:
                          MTIF2 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000008/2 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000002.12:g.55249476C>G, NC_000002.11:g.55476612C>G, NG_047062.1:g.24828G>C, NM_002453.3:c.900G>C, NM_002453.2:c.900G>C, NM_001005369.1:c.900G>C, NM_001321004.1:c.900G>C, NM_001321003.1:c.900G>C, NM_001321001.1:c.900G>C, NM_001321002.1:c.900G>C, NM_001321005.1:c.171G>C, XM_017004162.3:c.900G>C, XM_017004162.2:c.900G>C, XM_017004162.1:c.900G>C, XM_011532871.3:c.900G>C, XM_011532871.2:c.900G>C, XM_011532871.1:c.900G>C, XM_017004164.3:c.723G>C, XM_017004164.2:c.723G>C, XM_017004164.1:c.723G>C, XM_017004163.2:c.900G>C, XM_017004163.1:c.900G>C, XM_047444423.1:c.900G>C, XM_047444430.1:c.723G>C, XM_047444425.1:c.900G>C, XM_047444426.1:c.723G>C, XM_047444429.1:c.723G>C, XM_047444424.1:c.900G>C, XM_047444427.1:c.723G>C, XM_047444428.1:c.723G>C, XM_047444431.1:c.723G>C, XM_047444432.1:c.612G>C, XM_047444433.1:c.612G>C

                          13.

                          rs1477656497 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            2:55240161 (GRCh38)
                            2:55467297 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:55240160:A:G
                            Gene:
                            MTIF2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.55240161A>G, NC_000002.11:g.55467297A>G, NG_047062.1:g.34143T>C, NM_002453.3:c.1720T>C, NM_002453.2:c.1720T>C, NM_001005369.1:c.1720T>C, NM_001321004.1:c.1720T>C, NM_001321003.1:c.1720T>C, NM_001321001.1:c.1720T>C, NM_001321002.1:c.1720T>C, NM_001321005.1:c.991T>C, XM_017004162.3:c.1720T>C, XM_017004162.2:c.1720T>C, XM_017004162.1:c.1720T>C, XM_011532871.3:c.1720T>C, XM_011532871.2:c.1720T>C, XM_011532871.1:c.1720T>C, XM_017004164.3:c.1543T>C, XM_017004164.2:c.1543T>C, XM_017004164.1:c.1543T>C, XM_017004163.2:c.1720T>C, XM_017004163.1:c.1720T>C, XM_047444423.1:c.1720T>C, XM_047444430.1:c.1543T>C, XM_047444425.1:c.1720T>C, XM_047444426.1:c.1543T>C, XM_047444429.1:c.1543T>C, XM_047444424.1:c.1720T>C, XM_047444427.1:c.1543T>C, XM_047444428.1:c.1543T>C, XM_047444431.1:c.1543T>C, XM_047444432.1:c.1432T>C, XM_047444433.1:c.1432T>C, NP_002444.2:p.Phe574Leu, NP_001005369.1:p.Phe574Leu, NP_001307933.1:p.Phe574Leu, NP_001307932.1:p.Phe574Leu, NP_001307930.1:p.Phe574Leu, NP_001307931.1:p.Phe574Leu, NP_001307934.1:p.Phe331Leu, XP_016859651.1:p.Phe574Leu, XP_011531173.1:p.Phe574Leu, XP_016859653.1:p.Phe515Leu, XP_016859652.1:p.Phe574Leu, XP_047300379.1:p.Phe574Leu, XP_047300386.1:p.Phe515Leu, XP_047300381.1:p.Phe574Leu, XP_047300382.1:p.Phe515Leu, XP_047300385.1:p.Phe515Leu, XP_047300380.1:p.Phe574Leu, XP_047300383.1:p.Phe515Leu, XP_047300384.1:p.Phe515Leu, XP_047300387.1:p.Phe515Leu, XP_047300388.1:p.Phe478Leu, XP_047300389.1:p.Phe478Leu

                            14.

                            rs1476127852 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              2:55246419 (GRCh38)
                              2:55473555 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:55246418:C:G,NC_000002.12:55246418:C:T
                              Gene:
                              MTIF2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              NC_000002.12:g.55246419C>G, NC_000002.12:g.55246419C>T, NC_000002.11:g.55473555C>G, NC_000002.11:g.55473555C>T, NG_047062.1:g.27885G>C, NG_047062.1:g.27885G>A, NM_002453.3:c.1024G>C, NM_002453.3:c.1024G>A, NM_002453.2:c.1024G>C, NM_002453.2:c.1024G>A, NM_001005369.1:c.1024G>C, NM_001005369.1:c.1024G>A, NM_001321004.1:c.1024G>C, NM_001321004.1:c.1024G>A, NM_001321003.1:c.1024G>C, NM_001321003.1:c.1024G>A, NM_001321001.1:c.1024G>C, NM_001321001.1:c.1024G>A, NM_001321002.1:c.1024G>C, NM_001321002.1:c.1024G>A, NM_001321005.1:c.295G>C, NM_001321005.1:c.295G>A, XM_017004162.3:c.1024G>C, XM_017004162.3:c.1024G>A, XM_017004162.2:c.1024G>C, XM_017004162.2:c.1024G>A, XM_017004162.1:c.1024G>C, XM_017004162.1:c.1024G>A, XM_011532871.3:c.1024G>C, XM_011532871.3:c.1024G>A, XM_011532871.2:c.1024G>C, XM_011532871.2:c.1024G>A, XM_011532871.1:c.1024G>C, XM_011532871.1:c.1024G>A, XM_017004164.3:c.847G>C, XM_017004164.3:c.847G>A, XM_017004164.2:c.847G>C, XM_017004164.2:c.847G>A, XM_017004164.1:c.847G>C, XM_017004164.1:c.847G>A, XM_017004163.2:c.1024G>C, XM_017004163.2:c.1024G>A, XM_017004163.1:c.1024G>C, XM_017004163.1:c.1024G>A, XM_047444423.1:c.1024G>C, XM_047444423.1:c.1024G>A, XM_047444430.1:c.847G>C, XM_047444430.1:c.847G>A, XM_047444425.1:c.1024G>C, XM_047444425.1:c.1024G>A, XM_047444426.1:c.847G>C, XM_047444426.1:c.847G>A, XM_047444429.1:c.847G>C, XM_047444429.1:c.847G>A, XM_047444424.1:c.1024G>C, XM_047444424.1:c.1024G>A, XM_047444427.1:c.847G>C, XM_047444427.1:c.847G>A, XM_047444428.1:c.847G>C, XM_047444428.1:c.847G>A, XM_047444431.1:c.847G>C, XM_047444431.1:c.847G>A, XM_047444432.1:c.736G>C, XM_047444432.1:c.736G>A, XM_047444433.1:c.736G>C, XM_047444433.1:c.736G>A, NP_002444.2:p.Ala342Pro, NP_002444.2:p.Ala342Thr, NP_001005369.1:p.Ala342Pro, NP_001005369.1:p.Ala342Thr, NP_001307933.1:p.Ala342Pro, NP_001307933.1:p.Ala342Thr, NP_001307932.1:p.Ala342Pro, NP_001307932.1:p.Ala342Thr, NP_001307930.1:p.Ala342Pro, NP_001307930.1:p.Ala342Thr, NP_001307931.1:p.Ala342Pro, NP_001307931.1:p.Ala342Thr, NP_001307934.1:p.Ala99Pro, NP_001307934.1:p.Ala99Thr, XP_016859651.1:p.Ala342Pro, XP_016859651.1:p.Ala342Thr, XP_011531173.1:p.Ala342Pro, XP_011531173.1:p.Ala342Thr, XP_016859653.1:p.Ala283Pro, XP_016859653.1:p.Ala283Thr, XP_016859652.1:p.Ala342Pro, XP_016859652.1:p.Ala342Thr, XP_047300379.1:p.Ala342Pro, XP_047300379.1:p.Ala342Thr, XP_047300386.1:p.Ala283Pro, XP_047300386.1:p.Ala283Thr, XP_047300381.1:p.Ala342Pro, XP_047300381.1:p.Ala342Thr, XP_047300382.1:p.Ala283Pro, XP_047300382.1:p.Ala283Thr, XP_047300385.1:p.Ala283Pro, XP_047300385.1:p.Ala283Thr, XP_047300380.1:p.Ala342Pro, XP_047300380.1:p.Ala342Thr, XP_047300383.1:p.Ala283Pro, XP_047300383.1:p.Ala283Thr, XP_047300384.1:p.Ala283Pro, XP_047300384.1:p.Ala283Thr, XP_047300387.1:p.Ala283Pro, XP_047300387.1:p.Ala283Thr, XP_047300388.1:p.Ala246Pro, XP_047300388.1:p.Ala246Thr, XP_047300389.1:p.Ala246Pro, XP_047300389.1:p.Ala246Thr

                              15.

                              rs1475858397 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GA>- [Show Flanks]
                                Chromosome:
                                2:55252652 (GRCh38)
                                2:55479788 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:55252646:AGAGAGA:AGAGA
                                Gene:
                                MTIF2 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.55252648GA[2], NC_000002.11:g.55479784GA[2], NG_047062.1:g.21652CT[2], NM_002453.3:c.670_671del, NM_002453.2:c.670_671del, NM_001005369.1:c.670_671del, NM_001321004.1:c.670_671del, NM_001321003.1:c.670_671del, NM_001321001.1:c.670_671del, NM_001321002.1:c.670_671del, NM_001321005.1:c.-64CT[2], XM_017004162.3:c.670_671del, XM_017004162.2:c.670_671del, XM_017004162.1:c.670_671del, XM_011532871.3:c.670_671del, XM_011532871.2:c.670_671del, XM_011532871.1:c.670_671del, XM_017004163.2:c.670_671del, XM_017004163.1:c.670_671del, XM_047444423.1:c.670_671del, XM_047444425.1:c.670_671del, XM_047444424.1:c.670_671del, XM_047444432.1:c.382_383del, XM_047444433.1:c.382_383del, NP_002444.2:p.Leu224fs, NP_001005369.1:p.Leu224fs, NP_001307933.1:p.Leu224fs, NP_001307932.1:p.Leu224fs, NP_001307930.1:p.Leu224fs, NP_001307931.1:p.Leu224fs, XP_016859651.1:p.Leu224fs, XP_011531173.1:p.Leu224fs, XP_016859652.1:p.Leu224fs, XP_047300379.1:p.Leu224fs, XP_047300381.1:p.Leu224fs, XP_047300380.1:p.Leu224fs, XP_047300388.1:p.Leu128fs, XP_047300389.1:p.Leu128fs

                                16.

                                rs1473558167 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:55262335 (GRCh38)
                                  2:55489471 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:55262334:C:T
                                  Gene:
                                  MTIF2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.55262335C>T, NC_000002.11:g.55489471C>T, NG_047062.1:g.11969G>A, NM_002453.3:c.312G>A, NM_002453.2:c.312G>A, NM_001005369.1:c.312G>A, NM_001321004.1:c.312G>A, NM_001321003.1:c.312G>A, NM_001321001.1:c.312G>A, NM_001321002.1:c.312G>A, NM_001321005.1:c.-257G>A, XM_017004162.3:c.312G>A, XM_017004162.2:c.312G>A, XM_017004162.1:c.312G>A, XM_011532871.3:c.312G>A, XM_011532871.2:c.312G>A, XM_011532871.1:c.312G>A, XM_017004164.3:c.312G>A, XM_017004164.2:c.312G>A, XM_017004164.1:c.312G>A, XM_017004163.2:c.312G>A, XM_017004163.1:c.312G>A, XM_047444423.1:c.312G>A, XM_047444430.1:c.312G>A, XM_047444425.1:c.312G>A, XM_047444426.1:c.312G>A, XM_047444429.1:c.312G>A, XM_047444424.1:c.312G>A, XM_047444427.1:c.312G>A, XM_047444428.1:c.312G>A, XM_047444431.1:c.312G>A, XM_047444432.1:c.24G>A, XM_047444433.1:c.24G>A

                                  17.

                                  rs1473411743 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:55236750 (GRCh38)
                                    2:55463886 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:55236749:G:A
                                    Gene:
                                    MTIF2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.55236750G>A, NC_000002.11:g.55463886G>A, NG_033063.1:g.814C>T, NG_047062.1:g.37554C>T, NM_002453.3:c.2082C>T, NM_002453.2:c.2082C>T, NM_001005369.1:c.2082C>T, NM_001321004.1:c.2082C>T, NM_001321003.1:c.2082C>T, NM_001321001.1:c.2082C>T, NM_001321002.1:c.2082C>T, NM_001321005.1:c.1353C>T, NG_017017.1:g.9822G>A, XM_017004162.3:c.2082C>T, XM_017004162.2:c.2082C>T, XM_017004162.1:c.2082C>T, XM_011532871.3:c.2082C>T, XM_011532871.2:c.2082C>T, XM_011532871.1:c.2082C>T, XM_017004164.3:c.1905C>T, XM_017004164.2:c.1905C>T, XM_017004164.1:c.1905C>T, XM_017004163.2:c.2082C>T, XM_017004163.1:c.2082C>T, XM_047444423.1:c.2082C>T, XM_047444430.1:c.1905C>T, XM_047444425.1:c.2082C>T, XM_047444426.1:c.1905C>T, XM_047444429.1:c.1905C>T, XM_047444424.1:c.2082C>T, XM_047444427.1:c.1905C>T, XM_047444428.1:c.1905C>T, XM_047444431.1:c.1905C>T, XM_047444432.1:c.1794C>T, XM_047444433.1:c.1794C>T

                                    18.

                                    rs1472185596 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->TTTTTGTTACTAGAAGCCT [Show Flanks]
                                      Chromosome:
                                      2:55262426 (GRCh38)
                                      2:55489563 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:55262426:CCT:CCTTTTTTGTTACTAGAAGCCT
                                      Gene:
                                      MTIF2 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,splice_acceptor_variant,coding_sequence_variant
                                      HGVS:

                                      19.

                                      rs1470214589 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        2:55243590 (GRCh38)
                                        2:55470726 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:55243589:C:G
                                        Gene:
                                        MTIF2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.55243590C>G, NC_000002.11:g.55470726C>G, NG_047062.1:g.30714G>C, NM_002453.3:c.1390G>C, NM_002453.2:c.1390G>C, NM_001005369.1:c.1390G>C, NM_001321004.1:c.1390G>C, NM_001321003.1:c.1390G>C, NM_001321001.1:c.1390G>C, NM_001321002.1:c.1390G>C, NM_001321005.1:c.661G>C, XM_017004162.3:c.1390G>C, XM_017004162.2:c.1390G>C, XM_017004162.1:c.1390G>C, XM_011532871.3:c.1390G>C, XM_011532871.2:c.1390G>C, XM_011532871.1:c.1390G>C, XM_017004164.3:c.1213G>C, XM_017004164.2:c.1213G>C, XM_017004164.1:c.1213G>C, XM_017004163.2:c.1390G>C, XM_017004163.1:c.1390G>C, XM_047444423.1:c.1390G>C, XM_047444430.1:c.1213G>C, XM_047444425.1:c.1390G>C, XM_047444426.1:c.1213G>C, XM_047444429.1:c.1213G>C, XM_047444424.1:c.1390G>C, XM_047444427.1:c.1213G>C, XM_047444428.1:c.1213G>C, XM_047444431.1:c.1213G>C, XM_047444432.1:c.1102G>C, XM_047444433.1:c.1102G>C, NP_002444.2:p.Glu464Gln, NP_001005369.1:p.Glu464Gln, NP_001307933.1:p.Glu464Gln, NP_001307932.1:p.Glu464Gln, NP_001307930.1:p.Glu464Gln, NP_001307931.1:p.Glu464Gln, NP_001307934.1:p.Glu221Gln, XP_016859651.1:p.Glu464Gln, XP_011531173.1:p.Glu464Gln, XP_016859653.1:p.Glu405Gln, XP_016859652.1:p.Glu464Gln, XP_047300379.1:p.Glu464Gln, XP_047300386.1:p.Glu405Gln, XP_047300381.1:p.Glu464Gln, XP_047300382.1:p.Glu405Gln, XP_047300385.1:p.Glu405Gln, XP_047300380.1:p.Glu464Gln, XP_047300383.1:p.Glu405Gln, XP_047300384.1:p.Glu405Gln, XP_047300387.1:p.Glu405Gln, XP_047300388.1:p.Glu368Gln, XP_047300389.1:p.Glu368Gln

                                        20.

                                        rs1469877697 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:55236757 (GRCh38)
                                          2:55463893 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:55236756:C:T
                                          Gene:
                                          MTIF2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.55236757C>T, NC_000002.11:g.55463893C>T, NG_033063.1:g.807G>A, NG_047062.1:g.37547G>A, NM_002453.3:c.2075G>A, NM_002453.2:c.2075G>A, NM_001005369.1:c.2075G>A, NM_001321004.1:c.2075G>A, NM_001321003.1:c.2075G>A, NM_001321001.1:c.2075G>A, NM_001321002.1:c.2075G>A, NM_001321005.1:c.1346G>A, NG_017017.1:g.9829C>T, XM_017004162.3:c.2075G>A, XM_017004162.2:c.2075G>A, XM_017004162.1:c.2075G>A, XM_011532871.3:c.2075G>A, XM_011532871.2:c.2075G>A, XM_011532871.1:c.2075G>A, XM_017004164.3:c.1898G>A, XM_017004164.2:c.1898G>A, XM_017004164.1:c.1898G>A, XM_017004163.2:c.2075G>A, XM_017004163.1:c.2075G>A, XM_047444423.1:c.2075G>A, XM_047444430.1:c.1898G>A, XM_047444425.1:c.2075G>A, XM_047444426.1:c.1898G>A, XM_047444429.1:c.1898G>A, XM_047444424.1:c.2075G>A, XM_047444427.1:c.1898G>A, XM_047444428.1:c.1898G>A, XM_047444431.1:c.1898G>A, XM_047444432.1:c.1787G>A, XM_047444433.1:c.1787G>A, NP_002444.2:p.Cys692Tyr, NP_001005369.1:p.Cys692Tyr, NP_001307933.1:p.Cys692Tyr, NP_001307932.1:p.Cys692Tyr, NP_001307930.1:p.Cys692Tyr, NP_001307931.1:p.Cys692Tyr, NP_001307934.1:p.Cys449Tyr, XP_016859651.1:p.Cys692Tyr, XP_011531173.1:p.Cys692Tyr, XP_016859653.1:p.Cys633Tyr, XP_016859652.1:p.Cys692Tyr, XP_047300379.1:p.Cys692Tyr, XP_047300386.1:p.Cys633Tyr, XP_047300381.1:p.Cys692Tyr, XP_047300382.1:p.Cys633Tyr, XP_047300385.1:p.Cys633Tyr, XP_047300380.1:p.Cys692Tyr, XP_047300383.1:p.Cys633Tyr, XP_047300384.1:p.Cys633Tyr, XP_047300387.1:p.Cys633Tyr, XP_047300388.1:p.Cys596Tyr, XP_047300389.1:p.Cys596Tyr

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