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 1000

1.

rs1490533143 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    19:11176690 (GRCh38)
    19:11287366 (GRCh37)
    Canonical SPDI:
    NC_000019.10:11176689:C:T
    Gene:
    KANK2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.11176690C>T, NC_000019.9:g.11287366C>T, NG_051186.1:g.25878G>A, NM_015493.7:c.1672G>A, NM_015493.6:c.1672G>A, NM_001136191.3:c.1648G>A, NM_001136191.2:c.1648G>A, NM_001329451.2:c.1648G>A, NM_001329451.1:c.1648G>A, NM_001379563.1:c.1648G>A, NM_001379558.1:c.1648G>A, NM_001379551.1:c.1672G>A, NM_001379560.1:c.1648G>A, NM_001379557.1:c.1648G>A, NM_001379554.1:c.1672G>A, NM_001379561.1:c.1648G>A, NM_001379562.1:c.1648G>A, NM_001379553.1:c.1672G>A, NM_001379549.1:c.1672G>A, NM_001379556.1:c.1648G>A, NM_001379552.1:c.1672G>A, NM_001379555.1:c.1648G>A, NM_001379548.1:c.1672G>A, NM_001379559.1:c.1648G>A, NM_001379550.1:c.1672G>A, XM_047438569.1:c.1672G>A, XM_047438572.1:c.1648G>A, XM_047438575.1:c.1648G>A, XM_047438570.1:c.1672G>A, XM_047438576.1:c.1648G>A, XM_047438571.1:c.1672G>A, XM_047438574.1:c.1648G>A, XM_047438577.1:c.1648G>A, XM_047438573.1:c.1648G>A, NP_056308.3:p.Ala558Thr, NP_001129663.1:p.Ala550Thr, NP_001316380.1:p.Ala550Thr, NP_001366492.1:p.Ala550Thr, NP_001366487.1:p.Ala550Thr, NP_001366480.1:p.Ala558Thr, NP_001366489.1:p.Ala550Thr, NP_001366486.1:p.Ala550Thr, NP_001366483.1:p.Ala558Thr, NP_001366490.1:p.Ala550Thr, NP_001366491.1:p.Ala550Thr, NP_001366482.1:p.Ala558Thr, NP_001366478.1:p.Ala558Thr, NP_001366485.1:p.Ala550Thr, NP_001366481.1:p.Ala558Thr, NP_001366484.1:p.Ala550Thr, NP_001366477.1:p.Ala558Thr, NP_001366488.1:p.Ala550Thr, NP_001366479.1:p.Ala558Thr, XP_047294525.1:p.Ala558Thr, XP_047294528.1:p.Ala550Thr, XP_047294531.1:p.Ala550Thr, XP_047294526.1:p.Ala558Thr, XP_047294532.1:p.Ala550Thr, XP_047294527.1:p.Ala558Thr, XP_047294530.1:p.Ala550Thr, XP_047294533.1:p.Ala550Thr, XP_047294529.1:p.Ala550Thr

    2.

    rs1490223755 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:11170174 (GRCh38)
      19:11280850 (GRCh37)
      Canonical SPDI:
      NC_000019.10:11170173:C:T
      Gene:
      KANK2 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      HGVS:
      NC_000019.10:g.11170174C>T, NC_000019.9:g.11280850C>T, NG_051186.1:g.32394G>A, NM_015493.7:c.2310G>A, NM_015493.6:c.2310G>A, NM_001136191.3:c.2286G>A, NM_001136191.2:c.2286G>A, NM_001329451.2:c.2286G>A, NM_001329451.1:c.2286G>A, NM_001379563.1:c.2286G>A, NM_001379558.1:c.2286G>A, NM_001379551.1:c.2310G>A, NM_001379560.1:c.2286G>A, NM_001379557.1:c.2286G>A, NM_001379554.1:c.2310G>A, NM_001379561.1:c.2286G>A, NM_001379562.1:c.2286G>A, NM_001379553.1:c.2310G>A, NM_001379549.1:c.2310G>A, NM_001379556.1:c.2286G>A, NM_001379552.1:c.2310G>A, NM_001379555.1:c.2286G>A, NM_001379548.1:c.2310G>A, NM_001379559.1:c.2286G>A, NM_001379550.1:c.2310G>A, XM_047438569.1:c.2310G>A, XM_047438572.1:c.2286G>A, XM_047438575.1:c.2286G>A, XM_047438570.1:c.2310G>A, XM_047438576.1:c.2286G>A, XM_047438571.1:c.2310G>A, XM_047438574.1:c.2286G>A, XM_047438577.1:c.2286G>A, XM_047438573.1:c.2286G>A

      3.

      rs1489663316 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        19:11178370 (GRCh38)
        19:11289046 (GRCh37)
        Canonical SPDI:
        NC_000019.10:11178369:G:A,NC_000019.10:11178369:G:C
        Gene:
        KANK2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000011/3 (TOPMED)
        A=0.000014/2 (GnomAD)
        HGVS:
        NC_000019.10:g.11178370G>A, NC_000019.10:g.11178370G>C, NC_000019.9:g.11289046G>A, NC_000019.9:g.11289046G>C, NG_051186.1:g.24198C>T, NG_051186.1:g.24198C>G, NM_015493.7:c.1519C>T, NM_015493.7:c.1519C>G, NM_015493.6:c.1519C>T, NM_015493.6:c.1519C>G, NM_001136191.3:c.1495C>T, NM_001136191.3:c.1495C>G, NM_001136191.2:c.1495C>T, NM_001136191.2:c.1495C>G, NM_001329451.2:c.1495C>T, NM_001329451.2:c.1495C>G, NM_001329451.1:c.1495C>T, NM_001329451.1:c.1495C>G, NM_001379563.1:c.1495C>T, NM_001379563.1:c.1495C>G, NM_001379558.1:c.1495C>T, NM_001379558.1:c.1495C>G, NM_001379551.1:c.1519C>T, NM_001379551.1:c.1519C>G, NM_001379560.1:c.1495C>T, NM_001379560.1:c.1495C>G, NM_001379557.1:c.1495C>T, NM_001379557.1:c.1495C>G, NM_001379554.1:c.1519C>T, NM_001379554.1:c.1519C>G, NM_001379561.1:c.1495C>T, NM_001379561.1:c.1495C>G, NM_001379562.1:c.1495C>T, NM_001379562.1:c.1495C>G, NM_001379553.1:c.1519C>T, NM_001379553.1:c.1519C>G, NM_001379549.1:c.1519C>T, NM_001379549.1:c.1519C>G, NM_001379556.1:c.1495C>T, NM_001379556.1:c.1495C>G, NM_001379552.1:c.1519C>T, NM_001379552.1:c.1519C>G, NM_001379555.1:c.1495C>T, NM_001379555.1:c.1495C>G, NM_001379548.1:c.1519C>T, NM_001379548.1:c.1519C>G, NM_001379559.1:c.1495C>T, NM_001379559.1:c.1495C>G, NM_001379550.1:c.1519C>T, NM_001379550.1:c.1519C>G, XM_047438569.1:c.1519C>T, XM_047438569.1:c.1519C>G, XM_047438572.1:c.1495C>T, XM_047438572.1:c.1495C>G, XM_047438575.1:c.1495C>T, XM_047438575.1:c.1495C>G, XM_047438570.1:c.1519C>T, XM_047438570.1:c.1519C>G, XM_047438576.1:c.1495C>T, XM_047438576.1:c.1495C>G, XM_047438571.1:c.1519C>T, XM_047438571.1:c.1519C>G, XM_047438574.1:c.1495C>T, XM_047438574.1:c.1495C>G, XM_047438577.1:c.1495C>T, XM_047438577.1:c.1495C>G, XM_047438573.1:c.1495C>T, XM_047438573.1:c.1495C>G, NP_056308.3:p.Leu507Phe, NP_056308.3:p.Leu507Val, NP_001129663.1:p.Leu499Phe, NP_001129663.1:p.Leu499Val, NP_001316380.1:p.Leu499Phe, NP_001316380.1:p.Leu499Val, NP_001366492.1:p.Leu499Phe, NP_001366492.1:p.Leu499Val, NP_001366487.1:p.Leu499Phe, NP_001366487.1:p.Leu499Val, NP_001366480.1:p.Leu507Phe, NP_001366480.1:p.Leu507Val, NP_001366489.1:p.Leu499Phe, NP_001366489.1:p.Leu499Val, NP_001366486.1:p.Leu499Phe, NP_001366486.1:p.Leu499Val, NP_001366483.1:p.Leu507Phe, NP_001366483.1:p.Leu507Val, NP_001366490.1:p.Leu499Phe, NP_001366490.1:p.Leu499Val, NP_001366491.1:p.Leu499Phe, NP_001366491.1:p.Leu499Val, NP_001366482.1:p.Leu507Phe, NP_001366482.1:p.Leu507Val, NP_001366478.1:p.Leu507Phe, NP_001366478.1:p.Leu507Val, NP_001366485.1:p.Leu499Phe, NP_001366485.1:p.Leu499Val, NP_001366481.1:p.Leu507Phe, NP_001366481.1:p.Leu507Val, NP_001366484.1:p.Leu499Phe, NP_001366484.1:p.Leu499Val, NP_001366477.1:p.Leu507Phe, NP_001366477.1:p.Leu507Val, NP_001366488.1:p.Leu499Phe, NP_001366488.1:p.Leu499Val, NP_001366479.1:p.Leu507Phe, NP_001366479.1:p.Leu507Val, XP_047294525.1:p.Leu507Phe, XP_047294525.1:p.Leu507Val, XP_047294528.1:p.Leu499Phe, XP_047294528.1:p.Leu499Val, XP_047294531.1:p.Leu499Phe, XP_047294531.1:p.Leu499Val, XP_047294526.1:p.Leu507Phe, XP_047294526.1:p.Leu507Val, XP_047294532.1:p.Leu499Phe, XP_047294532.1:p.Leu499Val, XP_047294527.1:p.Leu507Phe, XP_047294527.1:p.Leu507Val, XP_047294530.1:p.Leu499Phe, XP_047294530.1:p.Leu499Val, XP_047294533.1:p.Leu499Phe, XP_047294533.1:p.Leu499Val, XP_047294529.1:p.Leu499Phe, XP_047294529.1:p.Leu499Val

        4.

        rs1489305561 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          19:11169888 (GRCh38)
          19:11280564 (GRCh37)
          Canonical SPDI:
          NC_000019.10:11169887:T:C
          Gene:
          KANK2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000019.10:g.11169888T>C, NC_000019.9:g.11280564T>C, NG_051186.1:g.32680A>G, NM_015493.7:c.2515A>G, NM_015493.6:c.2515A>G, NM_001136191.3:c.2491A>G, NM_001136191.2:c.2491A>G, NM_001329451.2:c.2491A>G, NM_001329451.1:c.2491A>G, NM_001379563.1:c.2491A>G, NM_001379558.1:c.2491A>G, NM_001379551.1:c.2515A>G, NM_001379560.1:c.2491A>G, NM_001379557.1:c.2491A>G, NM_001379554.1:c.2515A>G, NM_001379561.1:c.2491A>G, NM_001379562.1:c.2491A>G, NM_001379553.1:c.2515A>G, NM_001379549.1:c.2515A>G, NM_001379556.1:c.2491A>G, NM_001379552.1:c.2515A>G, NM_001379555.1:c.2491A>G, NM_001379548.1:c.2515A>G, NM_001379559.1:c.2491A>G, NM_001379550.1:c.2515A>G, XM_047438569.1:c.2515A>G, XM_047438572.1:c.2491A>G, XM_047438575.1:c.2491A>G, XM_047438570.1:c.2515A>G, XM_047438576.1:c.2491A>G, XM_047438571.1:c.2515A>G, XM_047438574.1:c.2491A>G, XM_047438577.1:c.2491A>G, XM_047438573.1:c.2491A>G, NP_056308.3:p.Ile839Val, NP_001129663.1:p.Ile831Val, NP_001316380.1:p.Ile831Val, NP_001366492.1:p.Ile831Val, NP_001366487.1:p.Ile831Val, NP_001366480.1:p.Ile839Val, NP_001366489.1:p.Ile831Val, NP_001366486.1:p.Ile831Val, NP_001366483.1:p.Ile839Val, NP_001366490.1:p.Ile831Val, NP_001366491.1:p.Ile831Val, NP_001366482.1:p.Ile839Val, NP_001366478.1:p.Ile839Val, NP_001366485.1:p.Ile831Val, NP_001366481.1:p.Ile839Val, NP_001366484.1:p.Ile831Val, NP_001366477.1:p.Ile839Val, NP_001366488.1:p.Ile831Val, NP_001366479.1:p.Ile839Val, XP_047294525.1:p.Ile839Val, XP_047294528.1:p.Ile831Val, XP_047294531.1:p.Ile831Val, XP_047294526.1:p.Ile839Val, XP_047294532.1:p.Ile831Val, XP_047294527.1:p.Ile839Val, XP_047294530.1:p.Ile831Val, XP_047294533.1:p.Ile831Val, XP_047294529.1:p.Ile831Val

          5.

          rs1486586563 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            19:11193503 (GRCh38)
            19:11304179 (GRCh37)
            Canonical SPDI:
            NC_000019.10:11193502:C:G
            Gene:
            KANK2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.11193503C>G, NC_000019.9:g.11304179C>G, NG_051186.1:g.9065G>C, NM_015493.7:c.577G>C, NM_015493.6:c.577G>C, NM_001136191.3:c.577G>C, NM_001136191.2:c.577G>C, NM_001329451.2:c.577G>C, NM_001329451.1:c.577G>C, NM_001379563.1:c.577G>C, NM_001379558.1:c.577G>C, NM_001379551.1:c.577G>C, NM_001379560.1:c.577G>C, NM_001379557.1:c.577G>C, NM_001379554.1:c.577G>C, NM_001379561.1:c.577G>C, NM_001379562.1:c.577G>C, NM_001379553.1:c.577G>C, NM_001379549.1:c.577G>C, NM_001379556.1:c.577G>C, NM_001379552.1:c.577G>C, NM_001379555.1:c.577G>C, NM_001379548.1:c.577G>C, NM_001379559.1:c.577G>C, NM_001379550.1:c.577G>C, XM_047438569.1:c.577G>C, XM_047438572.1:c.577G>C, XM_047438575.1:c.577G>C, XM_047438570.1:c.577G>C, XM_047438576.1:c.577G>C, XM_047438571.1:c.577G>C, XM_047438574.1:c.577G>C, XM_047438577.1:c.577G>C, XM_047438573.1:c.577G>C, NM_017616.1:c.577G>C, NP_056308.3:p.Ala193Pro, NP_001129663.1:p.Ala193Pro, NP_001316380.1:p.Ala193Pro, NP_001366492.1:p.Ala193Pro, NP_001366487.1:p.Ala193Pro, NP_001366480.1:p.Ala193Pro, NP_001366489.1:p.Ala193Pro, NP_001366486.1:p.Ala193Pro, NP_001366483.1:p.Ala193Pro, NP_001366490.1:p.Ala193Pro, NP_001366491.1:p.Ala193Pro, NP_001366482.1:p.Ala193Pro, NP_001366478.1:p.Ala193Pro, NP_001366485.1:p.Ala193Pro, NP_001366481.1:p.Ala193Pro, NP_001366484.1:p.Ala193Pro, NP_001366477.1:p.Ala193Pro, NP_001366488.1:p.Ala193Pro, NP_001366479.1:p.Ala193Pro, XP_047294525.1:p.Ala193Pro, XP_047294528.1:p.Ala193Pro, XP_047294531.1:p.Ala193Pro, XP_047294526.1:p.Ala193Pro, XP_047294532.1:p.Ala193Pro, XP_047294527.1:p.Ala193Pro, XP_047294530.1:p.Ala193Pro, XP_047294533.1:p.Ala193Pro, XP_047294529.1:p.Ala193Pro

            6.

            rs1485872399 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              19:11173101 (GRCh38)
              19:11283777 (GRCh37)
              Canonical SPDI:
              NC_000019.10:11173100:C:A
              Gene:
              KANK2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              HGVS:
              NC_000019.10:g.11173101C>A, NC_000019.9:g.11283777C>A, NG_051186.1:g.29467G>T, NM_015493.7:c.2115G>T, NM_015493.6:c.2115G>T, NM_001136191.3:c.2091G>T, NM_001136191.2:c.2091G>T, NM_001329451.2:c.2091G>T, NM_001329451.1:c.2091G>T, NM_001379563.1:c.2091G>T, NM_001379558.1:c.2091G>T, NM_001379551.1:c.2115G>T, NM_001379560.1:c.2091G>T, NM_001379557.1:c.2091G>T, NM_001379554.1:c.2115G>T, NM_001379561.1:c.2091G>T, NM_001379562.1:c.2091G>T, NM_001379553.1:c.2115G>T, NM_001379549.1:c.2115G>T, NM_001379556.1:c.2091G>T, NM_001379552.1:c.2115G>T, NM_001379555.1:c.2091G>T, NM_001379548.1:c.2115G>T, NM_001379559.1:c.2091G>T, NM_001379550.1:c.2115G>T, XM_047438569.1:c.2115G>T, XM_047438572.1:c.2091G>T, XM_047438575.1:c.2091G>T, XM_047438570.1:c.2115G>T, XM_047438576.1:c.2091G>T, XM_047438571.1:c.2115G>T, XM_047438574.1:c.2091G>T, XM_047438577.1:c.2091G>T, XM_047438573.1:c.2091G>T, NP_056308.3:p.Gln705His, NP_001129663.1:p.Gln697His, NP_001316380.1:p.Gln697His, NP_001366492.1:p.Gln697His, NP_001366487.1:p.Gln697His, NP_001366480.1:p.Gln705His, NP_001366489.1:p.Gln697His, NP_001366486.1:p.Gln697His, NP_001366483.1:p.Gln705His, NP_001366490.1:p.Gln697His, NP_001366491.1:p.Gln697His, NP_001366482.1:p.Gln705His, NP_001366478.1:p.Gln705His, NP_001366485.1:p.Gln697His, NP_001366481.1:p.Gln705His, NP_001366484.1:p.Gln697His, NP_001366477.1:p.Gln705His, NP_001366488.1:p.Gln697His, NP_001366479.1:p.Gln705His, XP_047294525.1:p.Gln705His, XP_047294528.1:p.Gln697His, XP_047294531.1:p.Gln697His, XP_047294526.1:p.Gln705His, XP_047294532.1:p.Gln697His, XP_047294527.1:p.Gln705His, XP_047294530.1:p.Gln697His, XP_047294533.1:p.Gln697His, XP_047294529.1:p.Gln697His

              7.

              rs1485723085 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:11178363 (GRCh38)
                19:11289039 (GRCh37)
                Canonical SPDI:
                NC_000019.10:11178362:A:G
                Gene:
                KANK2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000019.10:g.11178363A>G, NC_000019.9:g.11289039A>G, NG_051186.1:g.24205T>C, NM_015493.7:c.1526T>C, NM_015493.6:c.1526T>C, NM_001136191.3:c.1502T>C, NM_001136191.2:c.1502T>C, NM_001329451.2:c.1502T>C, NM_001329451.1:c.1502T>C, NM_001379563.1:c.1502T>C, NM_001379558.1:c.1502T>C, NM_001379551.1:c.1526T>C, NM_001379560.1:c.1502T>C, NM_001379557.1:c.1502T>C, NM_001379554.1:c.1526T>C, NM_001379561.1:c.1502T>C, NM_001379562.1:c.1502T>C, NM_001379553.1:c.1526T>C, NM_001379549.1:c.1526T>C, NM_001379556.1:c.1502T>C, NM_001379552.1:c.1526T>C, NM_001379555.1:c.1502T>C, NM_001379548.1:c.1526T>C, NM_001379559.1:c.1502T>C, NM_001379550.1:c.1526T>C, XM_047438569.1:c.1526T>C, XM_047438572.1:c.1502T>C, XM_047438575.1:c.1502T>C, XM_047438570.1:c.1526T>C, XM_047438576.1:c.1502T>C, XM_047438571.1:c.1526T>C, XM_047438574.1:c.1502T>C, XM_047438577.1:c.1502T>C, XM_047438573.1:c.1502T>C, NP_056308.3:p.Phe509Ser, NP_001129663.1:p.Phe501Ser, NP_001316380.1:p.Phe501Ser, NP_001366492.1:p.Phe501Ser, NP_001366487.1:p.Phe501Ser, NP_001366480.1:p.Phe509Ser, NP_001366489.1:p.Phe501Ser, NP_001366486.1:p.Phe501Ser, NP_001366483.1:p.Phe509Ser, NP_001366490.1:p.Phe501Ser, NP_001366491.1:p.Phe501Ser, NP_001366482.1:p.Phe509Ser, NP_001366478.1:p.Phe509Ser, NP_001366485.1:p.Phe501Ser, NP_001366481.1:p.Phe509Ser, NP_001366484.1:p.Phe501Ser, NP_001366477.1:p.Phe509Ser, NP_001366488.1:p.Phe501Ser, NP_001366479.1:p.Phe509Ser, XP_047294525.1:p.Phe509Ser, XP_047294528.1:p.Phe501Ser, XP_047294531.1:p.Phe501Ser, XP_047294526.1:p.Phe509Ser, XP_047294532.1:p.Phe501Ser, XP_047294527.1:p.Phe509Ser, XP_047294530.1:p.Phe501Ser, XP_047294533.1:p.Phe501Ser, XP_047294529.1:p.Phe501Ser

                8.

                rs1483191985 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  19:11193406 (GRCh38)
                  19:11304082 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:11193405:T:C
                  Gene:
                  KANK2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000019.10:g.11193406T>C, NC_000019.9:g.11304082T>C, NG_051186.1:g.9162A>G, NM_015493.7:c.674A>G, NM_015493.6:c.674A>G, NM_001136191.3:c.674A>G, NM_001136191.2:c.674A>G, NM_001329451.2:c.674A>G, NM_001329451.1:c.674A>G, NM_001379563.1:c.674A>G, NM_001379558.1:c.674A>G, NM_001379551.1:c.674A>G, NM_001379560.1:c.674A>G, NM_001379557.1:c.674A>G, NM_001379554.1:c.674A>G, NM_001379561.1:c.674A>G, NM_001379562.1:c.674A>G, NM_001379553.1:c.674A>G, NM_001379549.1:c.674A>G, NM_001379556.1:c.674A>G, NM_001379552.1:c.674A>G, NM_001379555.1:c.674A>G, NM_001379548.1:c.674A>G, NM_001379559.1:c.674A>G, NM_001379550.1:c.674A>G, XM_047438569.1:c.674A>G, XM_047438572.1:c.674A>G, XM_047438575.1:c.674A>G, XM_047438570.1:c.674A>G, XM_047438576.1:c.674A>G, XM_047438571.1:c.674A>G, XM_047438574.1:c.674A>G, XM_047438577.1:c.674A>G, XM_047438573.1:c.674A>G, NM_017616.1:c.674A>G, NP_056308.3:p.Gln225Arg, NP_001129663.1:p.Gln225Arg, NP_001316380.1:p.Gln225Arg, NP_001366492.1:p.Gln225Arg, NP_001366487.1:p.Gln225Arg, NP_001366480.1:p.Gln225Arg, NP_001366489.1:p.Gln225Arg, NP_001366486.1:p.Gln225Arg, NP_001366483.1:p.Gln225Arg, NP_001366490.1:p.Gln225Arg, NP_001366491.1:p.Gln225Arg, NP_001366482.1:p.Gln225Arg, NP_001366478.1:p.Gln225Arg, NP_001366485.1:p.Gln225Arg, NP_001366481.1:p.Gln225Arg, NP_001366484.1:p.Gln225Arg, NP_001366477.1:p.Gln225Arg, NP_001366488.1:p.Gln225Arg, NP_001366479.1:p.Gln225Arg, XP_047294525.1:p.Gln225Arg, XP_047294528.1:p.Gln225Arg, XP_047294531.1:p.Gln225Arg, XP_047294526.1:p.Gln225Arg, XP_047294532.1:p.Gln225Arg, XP_047294527.1:p.Gln225Arg, XP_047294530.1:p.Gln225Arg, XP_047294533.1:p.Gln225Arg, XP_047294529.1:p.Gln225Arg

                  9.

                  rs1481291955 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:11174544 (GRCh38)
                    19:11285220 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:11174543:T:C
                    Gene:
                    KANK2 (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)
                    HGVS:
                    NC_000019.10:g.11174544T>C, NC_000019.9:g.11285220T>C, NG_051186.1:g.28024A>G, NM_015493.7:c.2021A>G, NM_015493.6:c.2021A>G, NM_001136191.3:c.1997A>G, NM_001136191.2:c.1997A>G, NM_001329451.2:c.1997A>G, NM_001329451.1:c.1997A>G, NM_001379563.1:c.1997A>G, NM_001379558.1:c.1997A>G, NM_001379551.1:c.2021A>G, NM_001379560.1:c.1997A>G, NM_001379557.1:c.1997A>G, NM_001379554.1:c.2021A>G, NM_001379561.1:c.1997A>G, NM_001379562.1:c.1997A>G, NM_001379553.1:c.2021A>G, NM_001379549.1:c.2021A>G, NM_001379556.1:c.1997A>G, NM_001379552.1:c.2021A>G, NM_001379555.1:c.1997A>G, NM_001379548.1:c.2021A>G, NM_001379559.1:c.1997A>G, NM_001379550.1:c.2021A>G, XM_047438569.1:c.2021A>G, XM_047438572.1:c.1997A>G, XM_047438575.1:c.1997A>G, XM_047438570.1:c.2021A>G, XM_047438576.1:c.1997A>G, XM_047438571.1:c.2021A>G, XM_047438574.1:c.1997A>G, XM_047438577.1:c.1997A>G, XM_047438573.1:c.1997A>G, NP_056308.3:p.Asn674Ser, NP_001129663.1:p.Asn666Ser, NP_001316380.1:p.Asn666Ser, NP_001366492.1:p.Asn666Ser, NP_001366487.1:p.Asn666Ser, NP_001366480.1:p.Asn674Ser, NP_001366489.1:p.Asn666Ser, NP_001366486.1:p.Asn666Ser, NP_001366483.1:p.Asn674Ser, NP_001366490.1:p.Asn666Ser, NP_001366491.1:p.Asn666Ser, NP_001366482.1:p.Asn674Ser, NP_001366478.1:p.Asn674Ser, NP_001366485.1:p.Asn666Ser, NP_001366481.1:p.Asn674Ser, NP_001366484.1:p.Asn666Ser, NP_001366477.1:p.Asn674Ser, NP_001366488.1:p.Asn666Ser, NP_001366479.1:p.Asn674Ser, XP_047294525.1:p.Asn674Ser, XP_047294528.1:p.Asn666Ser, XP_047294531.1:p.Asn666Ser, XP_047294526.1:p.Asn674Ser, XP_047294532.1:p.Asn666Ser, XP_047294527.1:p.Asn674Ser, XP_047294530.1:p.Asn666Ser, XP_047294533.1:p.Asn666Ser, XP_047294529.1:p.Asn666Ser

                    10.

                    rs1481106851 has merged into rs908631390 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CTGTGGGTGGGCTCC>-,CTGTGGGTGGGCTCCCTGTGGGTGGGCTCC [Show Flanks]
                      Chromosome:
                      19:11178606 (GRCh38)
                      19:11289282 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:11178595:GGTGGGCTCCCTGTGGGTGGGCTCC:GGTGGGCTCC,NC_000019.10:11178595:GGTGGGCTCCCTGTGGGTGGGCTCC:GGTGGGCTCCCTGTGGGTGGGCTCCCTGTGGGTGGGCTCC
                      Gene:
                      KANK2 (Varview)
                      Functional Consequence:
                      inframe_insertion,coding_sequence_variant,inframe_deletion
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      GGTGGGCTCCCTGTGGGTGGGCTCCCTGTGGGTGGGCTCC=0./0 (ALFA)
                      -=0.000004/1 (GnomAD_exomes)
                      GGTGGGCTCCCTGTG=0.000007/1 (GnomAD)
                      -=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000019.10:g.11178606_11178620del, NC_000019.10:g.11178606_11178620dup, NC_000019.9:g.11289282_11289296del, NC_000019.9:g.11289282_11289296dup, NG_051186.1:g.23958_23972del, NG_051186.1:g.23958_23972dup, NM_015493.7:c.1360_1374del, NM_015493.7:c.1360_1374dup, NM_015493.6:c.1360_1374del, NM_015493.6:c.1360_1374dup, NM_001136191.3:c.1360_1374del, NM_001136191.3:c.1360_1374dup, NM_001136191.2:c.1360_1374del, NM_001136191.2:c.1360_1374dup, NM_001329451.2:c.1360_1374del, NM_001329451.2:c.1360_1374dup, NM_001329451.1:c.1360_1374del, NM_001329451.1:c.1360_1374dup, NM_001379563.1:c.1360_1374del, NM_001379563.1:c.1360_1374dup, NM_001379558.1:c.1360_1374del, NM_001379558.1:c.1360_1374dup, NM_001379551.1:c.1360_1374del, NM_001379551.1:c.1360_1374dup, NM_001379560.1:c.1360_1374del, NM_001379560.1:c.1360_1374dup, NM_001379557.1:c.1360_1374del, NM_001379557.1:c.1360_1374dup, NM_001379554.1:c.1360_1374del, NM_001379554.1:c.1360_1374dup, NM_001379561.1:c.1360_1374del, NM_001379561.1:c.1360_1374dup, NM_001379562.1:c.1360_1374del, NM_001379562.1:c.1360_1374dup, NM_001379553.1:c.1360_1374del, NM_001379553.1:c.1360_1374dup, NM_001379549.1:c.1360_1374del, NM_001379549.1:c.1360_1374dup, NM_001379556.1:c.1360_1374del, NM_001379556.1:c.1360_1374dup, NM_001379552.1:c.1360_1374del, NM_001379552.1:c.1360_1374dup, NM_001379555.1:c.1360_1374del, NM_001379555.1:c.1360_1374dup, NM_001379548.1:c.1360_1374del, NM_001379548.1:c.1360_1374dup, NM_001379559.1:c.1360_1374del, NM_001379559.1:c.1360_1374dup, NM_001379550.1:c.1360_1374del, NM_001379550.1:c.1360_1374dup, XM_047438569.1:c.1360_1374del, XM_047438569.1:c.1360_1374dup, XM_047438572.1:c.1360_1374del, XM_047438572.1:c.1360_1374dup, XM_047438575.1:c.1360_1374del, XM_047438575.1:c.1360_1374dup, XM_047438570.1:c.1360_1374del, XM_047438570.1:c.1360_1374dup, XM_047438576.1:c.1360_1374del, XM_047438576.1:c.1360_1374dup, XM_047438571.1:c.1360_1374del, XM_047438571.1:c.1360_1374dup, XM_047438574.1:c.1360_1374del, XM_047438574.1:c.1360_1374dup, XM_047438577.1:c.1360_1374del, XM_047438577.1:c.1360_1374dup, XM_047438573.1:c.1360_1374del, XM_047438573.1:c.1360_1374dup, NP_056308.3:p.His454_Thr458del, NP_056308.3:p.His454_Thr458dup, NP_001129663.1:p.His454_Thr458del, NP_001129663.1:p.His454_Thr458dup, NP_001316380.1:p.His454_Thr458del, NP_001316380.1:p.His454_Thr458dup, NP_001366492.1:p.His454_Thr458del, NP_001366492.1:p.His454_Thr458dup, NP_001366487.1:p.His454_Thr458del, NP_001366487.1:p.His454_Thr458dup, NP_001366480.1:p.His454_Thr458del, NP_001366480.1:p.His454_Thr458dup, NP_001366489.1:p.His454_Thr458del, NP_001366489.1:p.His454_Thr458dup, NP_001366486.1:p.His454_Thr458del, NP_001366486.1:p.His454_Thr458dup, NP_001366483.1:p.His454_Thr458del, NP_001366483.1:p.His454_Thr458dup, NP_001366490.1:p.His454_Thr458del, NP_001366490.1:p.His454_Thr458dup, NP_001366491.1:p.His454_Thr458del, NP_001366491.1:p.His454_Thr458dup, NP_001366482.1:p.His454_Thr458del, NP_001366482.1:p.His454_Thr458dup, NP_001366478.1:p.His454_Thr458del, NP_001366478.1:p.His454_Thr458dup, NP_001366485.1:p.His454_Thr458del, NP_001366485.1:p.His454_Thr458dup, NP_001366481.1:p.His454_Thr458del, NP_001366481.1:p.His454_Thr458dup, NP_001366484.1:p.His454_Thr458del, NP_001366484.1:p.His454_Thr458dup, NP_001366477.1:p.His454_Thr458del, NP_001366477.1:p.His454_Thr458dup, NP_001366488.1:p.His454_Thr458del, NP_001366488.1:p.His454_Thr458dup, NP_001366479.1:p.His454_Thr458del, NP_001366479.1:p.His454_Thr458dup, XP_047294525.1:p.His454_Thr458del, XP_047294525.1:p.His454_Thr458dup, XP_047294528.1:p.His454_Thr458del, XP_047294528.1:p.His454_Thr458dup, XP_047294531.1:p.His454_Thr458del, XP_047294531.1:p.His454_Thr458dup, XP_047294526.1:p.His454_Thr458del, XP_047294526.1:p.His454_Thr458dup, XP_047294532.1:p.His454_Thr458del, XP_047294532.1:p.His454_Thr458dup, XP_047294527.1:p.His454_Thr458del, XP_047294527.1:p.His454_Thr458dup, XP_047294530.1:p.His454_Thr458del, XP_047294530.1:p.His454_Thr458dup, XP_047294533.1:p.His454_Thr458del, XP_047294533.1:p.His454_Thr458dup, XP_047294529.1:p.His454_Thr458del, XP_047294529.1:p.His454_Thr458dup

                      11.

                      rs1480245499 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:11178599 (GRCh38)
                        19:11289275 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:11178598:G:A
                        Gene:
                        KANK2 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000019.10:g.11178599G>A, NC_000019.9:g.11289275G>A, NG_051186.1:g.23969C>T, NM_015493.7:c.1371C>T, NM_015493.6:c.1371C>T, NM_001136191.3:c.1371C>T, NM_001136191.2:c.1371C>T, NM_001329451.2:c.1371C>T, NM_001329451.1:c.1371C>T, NM_001379563.1:c.1371C>T, NM_001379558.1:c.1371C>T, NM_001379551.1:c.1371C>T, NM_001379560.1:c.1371C>T, NM_001379557.1:c.1371C>T, NM_001379554.1:c.1371C>T, NM_001379561.1:c.1371C>T, NM_001379562.1:c.1371C>T, NM_001379553.1:c.1371C>T, NM_001379549.1:c.1371C>T, NM_001379556.1:c.1371C>T, NM_001379552.1:c.1371C>T, NM_001379555.1:c.1371C>T, NM_001379548.1:c.1371C>T, NM_001379559.1:c.1371C>T, NM_001379550.1:c.1371C>T, XM_047438569.1:c.1371C>T, XM_047438572.1:c.1371C>T, XM_047438575.1:c.1371C>T, XM_047438570.1:c.1371C>T, XM_047438576.1:c.1371C>T, XM_047438571.1:c.1371C>T, XM_047438574.1:c.1371C>T, XM_047438577.1:c.1371C>T, XM_047438573.1:c.1371C>T

                        12.

                        rs1480169645 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          19:11193049 (GRCh38)
                          19:11303725 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:11193048:C:G
                          Gene:
                          KANK2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.11193049C>G, NC_000019.9:g.11303725C>G, NG_051186.1:g.9519G>C, NM_015493.7:c.1031G>C, NM_015493.6:c.1031G>C, NM_001136191.3:c.1031G>C, NM_001136191.2:c.1031G>C, NM_001329451.2:c.1031G>C, NM_001329451.1:c.1031G>C, NM_001379563.1:c.1031G>C, NM_001379558.1:c.1031G>C, NM_001379551.1:c.1031G>C, NM_001379560.1:c.1031G>C, NM_001379557.1:c.1031G>C, NM_001379554.1:c.1031G>C, NM_001379561.1:c.1031G>C, NM_001379562.1:c.1031G>C, NM_001379553.1:c.1031G>C, NM_001379549.1:c.1031G>C, NM_001379556.1:c.1031G>C, NM_001379552.1:c.1031G>C, NM_001379555.1:c.1031G>C, NM_001379548.1:c.1031G>C, NM_001379559.1:c.1031G>C, NM_001379550.1:c.1031G>C, XM_047438569.1:c.1031G>C, XM_047438572.1:c.1031G>C, XM_047438575.1:c.1031G>C, XM_047438570.1:c.1031G>C, XM_047438576.1:c.1031G>C, XM_047438571.1:c.1031G>C, XM_047438574.1:c.1031G>C, XM_047438577.1:c.1031G>C, XM_047438573.1:c.1031G>C, NM_017616.1:c.*146G>C, NP_056308.3:p.Ser344Thr, NP_001129663.1:p.Ser344Thr, NP_001316380.1:p.Ser344Thr, NP_001366492.1:p.Ser344Thr, NP_001366487.1:p.Ser344Thr, NP_001366480.1:p.Ser344Thr, NP_001366489.1:p.Ser344Thr, NP_001366486.1:p.Ser344Thr, NP_001366483.1:p.Ser344Thr, NP_001366490.1:p.Ser344Thr, NP_001366491.1:p.Ser344Thr, NP_001366482.1:p.Ser344Thr, NP_001366478.1:p.Ser344Thr, NP_001366485.1:p.Ser344Thr, NP_001366481.1:p.Ser344Thr, NP_001366484.1:p.Ser344Thr, NP_001366477.1:p.Ser344Thr, NP_001366488.1:p.Ser344Thr, NP_001366479.1:p.Ser344Thr, XP_047294525.1:p.Ser344Thr, XP_047294528.1:p.Ser344Thr, XP_047294531.1:p.Ser344Thr, XP_047294526.1:p.Ser344Thr, XP_047294532.1:p.Ser344Thr, XP_047294527.1:p.Ser344Thr, XP_047294530.1:p.Ser344Thr, XP_047294533.1:p.Ser344Thr, XP_047294529.1:p.Ser344Thr

                          13.

                          rs1479740607 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:11170204 (GRCh38)
                            19:11280880 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:11170203:C:T
                            Gene:
                            KANK2 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.00003/1 (ALFA)
                            T=0.00004/1 (TOMMO)
                            HGVS:
                            NC_000019.10:g.11170204C>T, NC_000019.9:g.11280880C>T, NG_051186.1:g.32364G>A, NM_015493.7:c.2280G>A, NM_015493.6:c.2280G>A, NM_001136191.3:c.2256G>A, NM_001136191.2:c.2256G>A, NM_001329451.2:c.2256G>A, NM_001329451.1:c.2256G>A, NM_001379563.1:c.2256G>A, NM_001379558.1:c.2256G>A, NM_001379551.1:c.2280G>A, NM_001379560.1:c.2256G>A, NM_001379557.1:c.2256G>A, NM_001379554.1:c.2280G>A, NM_001379561.1:c.2256G>A, NM_001379562.1:c.2256G>A, NM_001379553.1:c.2280G>A, NM_001379549.1:c.2280G>A, NM_001379556.1:c.2256G>A, NM_001379552.1:c.2280G>A, NM_001379555.1:c.2256G>A, NM_001379548.1:c.2280G>A, NM_001379559.1:c.2256G>A, NM_001379550.1:c.2280G>A, XM_047438569.1:c.2280G>A, XM_047438572.1:c.2256G>A, XM_047438575.1:c.2256G>A, XM_047438570.1:c.2280G>A, XM_047438576.1:c.2256G>A, XM_047438571.1:c.2280G>A, XM_047438574.1:c.2256G>A, XM_047438577.1:c.2256G>A, XM_047438573.1:c.2256G>A

                            14.

                            rs1476292182 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GCAGACATGGCCCGGAACGTGACCAGGTGCCGC>- [Show Flanks]
                              Chromosome:
                              19:11174583 (GRCh38)
                              19:11285259 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:11174577:GCCGCGCAGACATGGCCCGGAACGTGACCAGGTGCCGC:GCCGC
                              Gene:
                              KANK2 (Varview)
                              Functional Consequence:
                              inframe_deletion,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000019.10:g.11174583_11174615del, NC_000019.9:g.11285259_11285291del, NG_051186.1:g.27958_27990del, NM_015493.7:c.1955_1987del, NM_015493.6:c.1955_1987del, NM_001136191.3:c.1931_1963del, NM_001136191.2:c.1931_1963del, NM_001329451.2:c.1931_1963del, NM_001329451.1:c.1931_1963del, NM_001379563.1:c.1931_1963del, NM_001379558.1:c.1931_1963del, NM_001379551.1:c.1955_1987del, NM_001379560.1:c.1931_1963del, NM_001379557.1:c.1931_1963del, NM_001379554.1:c.1955_1987del, NM_001379561.1:c.1931_1963del, NM_001379562.1:c.1931_1963del, NM_001379553.1:c.1955_1987del, NM_001379549.1:c.1955_1987del, NM_001379556.1:c.1931_1963del, NM_001379552.1:c.1955_1987del, NM_001379555.1:c.1931_1963del, NM_001379548.1:c.1955_1987del, NM_001379559.1:c.1931_1963del, NM_001379550.1:c.1955_1987del, XM_047438569.1:c.1955_1987del, XM_047438572.1:c.1931_1963del, XM_047438575.1:c.1931_1963del, XM_047438570.1:c.1955_1987del, XM_047438576.1:c.1931_1963del, XM_047438571.1:c.1955_1987del, XM_047438574.1:c.1931_1963del, XM_047438577.1:c.1931_1963del, XM_047438573.1:c.1931_1963del, NP_056308.3:p.His652_Arg662del, NP_001129663.1:p.His644_Arg654del, NP_001316380.1:p.His644_Arg654del, NP_001366492.1:p.His644_Arg654del, NP_001366487.1:p.His644_Arg654del, NP_001366480.1:p.His652_Arg662del, NP_001366489.1:p.His644_Arg654del, NP_001366486.1:p.His644_Arg654del, NP_001366483.1:p.His652_Arg662del, NP_001366490.1:p.His644_Arg654del, NP_001366491.1:p.His644_Arg654del, NP_001366482.1:p.His652_Arg662del, NP_001366478.1:p.His652_Arg662del, NP_001366485.1:p.His644_Arg654del, NP_001366481.1:p.His652_Arg662del, NP_001366484.1:p.His644_Arg654del, NP_001366477.1:p.His652_Arg662del, NP_001366488.1:p.His644_Arg654del, NP_001366479.1:p.His652_Arg662del, XP_047294525.1:p.His652_Arg662del, XP_047294528.1:p.His644_Arg654del, XP_047294531.1:p.His644_Arg654del, XP_047294526.1:p.His652_Arg662del, XP_047294532.1:p.His644_Arg654del, XP_047294527.1:p.His652_Arg662del, XP_047294530.1:p.His644_Arg654del, XP_047294533.1:p.His644_Arg654del, XP_047294529.1:p.His644_Arg654del

                              15.

                              rs1475367486 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:11178442 (GRCh38)
                                19:11289118 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:11178441:G:A
                                Gene:
                                KANK2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000019.10:g.11178442G>A, NC_000019.9:g.11289118G>A, NG_051186.1:g.24126C>T, NM_015493.7:c.1447C>T, NM_015493.6:c.1447C>T, NM_001136191.3:c.1423C>T, NM_001136191.2:c.1423C>T, NM_001329451.2:c.1423C>T, NM_001329451.1:c.1423C>T, NM_001379563.1:c.1423C>T, NM_001379558.1:c.1423C>T, NM_001379551.1:c.1447C>T, NM_001379560.1:c.1423C>T, NM_001379557.1:c.1423C>T, NM_001379554.1:c.1447C>T, NM_001379561.1:c.1423C>T, NM_001379562.1:c.1423C>T, NM_001379553.1:c.1447C>T, NM_001379549.1:c.1447C>T, NM_001379556.1:c.1423C>T, NM_001379552.1:c.1447C>T, NM_001379555.1:c.1423C>T, NM_001379548.1:c.1447C>T, NM_001379559.1:c.1423C>T, NM_001379550.1:c.1447C>T, XM_047438569.1:c.1447C>T, XM_047438572.1:c.1423C>T, XM_047438575.1:c.1423C>T, XM_047438570.1:c.1447C>T, XM_047438576.1:c.1423C>T, XM_047438571.1:c.1447C>T, XM_047438574.1:c.1423C>T, XM_047438577.1:c.1423C>T, XM_047438573.1:c.1423C>T, NP_056308.3:p.Pro483Ser, NP_001129663.1:p.Pro475Ser, NP_001316380.1:p.Pro475Ser, NP_001366492.1:p.Pro475Ser, NP_001366487.1:p.Pro475Ser, NP_001366480.1:p.Pro483Ser, NP_001366489.1:p.Pro475Ser, NP_001366486.1:p.Pro475Ser, NP_001366483.1:p.Pro483Ser, NP_001366490.1:p.Pro475Ser, NP_001366491.1:p.Pro475Ser, NP_001366482.1:p.Pro483Ser, NP_001366478.1:p.Pro483Ser, NP_001366485.1:p.Pro475Ser, NP_001366481.1:p.Pro483Ser, NP_001366484.1:p.Pro475Ser, NP_001366477.1:p.Pro483Ser, NP_001366488.1:p.Pro475Ser, NP_001366479.1:p.Pro483Ser, XP_047294525.1:p.Pro483Ser, XP_047294528.1:p.Pro475Ser, XP_047294531.1:p.Pro475Ser, XP_047294526.1:p.Pro483Ser, XP_047294532.1:p.Pro475Ser, XP_047294527.1:p.Pro483Ser, XP_047294530.1:p.Pro475Ser, XP_047294533.1:p.Pro475Ser, XP_047294529.1:p.Pro475Ser

                                16.

                                rs1472887013 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GTC>- [Show Flanks]
                                  Chromosome:
                                  19:11173041 (GRCh38)
                                  19:11283717 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:11173037:GTCGTC:GTC
                                  Gene:
                                  KANK2 (Varview)
                                  Functional Consequence:
                                  inframe_deletion,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GTCGTC=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.11173038GTC[1], NC_000019.9:g.11283714GTC[1], NG_051186.1:g.29525GAC[1], NM_015493.7:c.2173GAC[1], NM_015493.6:c.2173GAC[1], NM_001136191.3:c.2149GAC[1], NM_001136191.2:c.2149GAC[1], NM_001329451.2:c.2149GAC[1], NM_001329451.1:c.2149GAC[1], NM_001379563.1:c.2149GAC[1], NM_001379558.1:c.2149GAC[1], NM_001379551.1:c.2173GAC[1], NM_001379560.1:c.2149GAC[1], NM_001379557.1:c.2149GAC[1], NM_001379554.1:c.2173GAC[1], NM_001379561.1:c.2149GAC[1], NM_001379562.1:c.2149GAC[1], NM_001379553.1:c.2173GAC[1], NM_001379549.1:c.2173GAC[1], NM_001379556.1:c.2149GAC[1], NM_001379552.1:c.2173GAC[1], NM_001379555.1:c.2149GAC[1], NM_001379548.1:c.2173GAC[1], NM_001379559.1:c.2149GAC[1], NM_001379550.1:c.2173GAC[1], XM_047438569.1:c.2173GAC[1], XM_047438572.1:c.2149GAC[1], XM_047438575.1:c.2149GAC[1], XM_047438570.1:c.2173GAC[1], XM_047438576.1:c.2149GAC[1], XM_047438571.1:c.2173GAC[1], XM_047438574.1:c.2149GAC[1], XM_047438577.1:c.2149GAC[1], XM_047438573.1:c.2149GAC[1], NP_056308.3:p.Asp726del, NP_001129663.1:p.Asp718del, NP_001316380.1:p.Asp718del, NP_001366492.1:p.Asp718del, NP_001366487.1:p.Asp718del, NP_001366480.1:p.Asp726del, NP_001366489.1:p.Asp718del, NP_001366486.1:p.Asp718del, NP_001366483.1:p.Asp726del, NP_001366490.1:p.Asp718del, NP_001366491.1:p.Asp718del, NP_001366482.1:p.Asp726del, NP_001366478.1:p.Asp726del, NP_001366485.1:p.Asp718del, NP_001366481.1:p.Asp726del, NP_001366484.1:p.Asp718del, NP_001366477.1:p.Asp726del, NP_001366488.1:p.Asp718del, NP_001366479.1:p.Asp726del, XP_047294525.1:p.Asp726del, XP_047294528.1:p.Asp718del, XP_047294531.1:p.Asp718del, XP_047294526.1:p.Asp726del, XP_047294532.1:p.Asp718del, XP_047294527.1:p.Asp726del, XP_047294530.1:p.Asp718del, XP_047294533.1:p.Asp718del, XP_047294529.1:p.Asp718del

                                  17.

                                  rs1470041532 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    19:11193367 (GRCh38)
                                    19:11304043 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:11193366:T:A
                                    Gene:
                                    KANK2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.11193367T>A, NC_000019.9:g.11304043T>A, NG_051186.1:g.9201A>T, NM_015493.7:c.713A>T, NM_015493.6:c.713A>T, NM_001136191.3:c.713A>T, NM_001136191.2:c.713A>T, NM_001329451.2:c.713A>T, NM_001329451.1:c.713A>T, NM_001379563.1:c.713A>T, NM_001379558.1:c.713A>T, NM_001379551.1:c.713A>T, NM_001379560.1:c.713A>T, NM_001379557.1:c.713A>T, NM_001379554.1:c.713A>T, NM_001379561.1:c.713A>T, NM_001379562.1:c.713A>T, NM_001379553.1:c.713A>T, NM_001379549.1:c.713A>T, NM_001379556.1:c.713A>T, NM_001379552.1:c.713A>T, NM_001379555.1:c.713A>T, NM_001379548.1:c.713A>T, NM_001379559.1:c.713A>T, NM_001379550.1:c.713A>T, XM_047438569.1:c.713A>T, XM_047438572.1:c.713A>T, XM_047438575.1:c.713A>T, XM_047438570.1:c.713A>T, XM_047438576.1:c.713A>T, XM_047438571.1:c.713A>T, XM_047438574.1:c.713A>T, XM_047438577.1:c.713A>T, XM_047438573.1:c.713A>T, NM_017616.1:c.713A>T, NP_056308.3:p.His238Leu, NP_001129663.1:p.His238Leu, NP_001316380.1:p.His238Leu, NP_001366492.1:p.His238Leu, NP_001366487.1:p.His238Leu, NP_001366480.1:p.His238Leu, NP_001366489.1:p.His238Leu, NP_001366486.1:p.His238Leu, NP_001366483.1:p.His238Leu, NP_001366490.1:p.His238Leu, NP_001366491.1:p.His238Leu, NP_001366482.1:p.His238Leu, NP_001366478.1:p.His238Leu, NP_001366485.1:p.His238Leu, NP_001366481.1:p.His238Leu, NP_001366484.1:p.His238Leu, NP_001366477.1:p.His238Leu, NP_001366488.1:p.His238Leu, NP_001366479.1:p.His238Leu, XP_047294525.1:p.His238Leu, XP_047294528.1:p.His238Leu, XP_047294531.1:p.His238Leu, XP_047294526.1:p.His238Leu, XP_047294532.1:p.His238Leu, XP_047294527.1:p.His238Leu, XP_047294530.1:p.His238Leu, XP_047294533.1:p.His238Leu, XP_047294529.1:p.His238Leu

                                    18.

                                    rs1468849740 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:11193260 (GRCh38)
                                      19:11303936 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:11193259:G:A
                                      Gene:
                                      KANK2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000019.10:g.11193260G>A, NC_000019.9:g.11303936G>A, NG_051186.1:g.9308C>T, NM_015493.7:c.820C>T, NM_015493.6:c.820C>T, NM_001136191.3:c.820C>T, NM_001136191.2:c.820C>T, NM_001329451.2:c.820C>T, NM_001329451.1:c.820C>T, NM_001379563.1:c.820C>T, NM_001379558.1:c.820C>T, NM_001379551.1:c.820C>T, NM_001379560.1:c.820C>T, NM_001379557.1:c.820C>T, NM_001379554.1:c.820C>T, NM_001379561.1:c.820C>T, NM_001379562.1:c.820C>T, NM_001379553.1:c.820C>T, NM_001379549.1:c.820C>T, NM_001379556.1:c.820C>T, NM_001379552.1:c.820C>T, NM_001379555.1:c.820C>T, NM_001379548.1:c.820C>T, NM_001379559.1:c.820C>T, NM_001379550.1:c.820C>T, XM_047438569.1:c.820C>T, XM_047438572.1:c.820C>T, XM_047438575.1:c.820C>T, XM_047438570.1:c.820C>T, XM_047438576.1:c.820C>T, XM_047438571.1:c.820C>T, XM_047438574.1:c.820C>T, XM_047438577.1:c.820C>T, XM_047438573.1:c.820C>T, NM_017616.1:c.820C>T, NP_056308.3:p.Arg274Trp, NP_001129663.1:p.Arg274Trp, NP_001316380.1:p.Arg274Trp, NP_001366492.1:p.Arg274Trp, NP_001366487.1:p.Arg274Trp, NP_001366480.1:p.Arg274Trp, NP_001366489.1:p.Arg274Trp, NP_001366486.1:p.Arg274Trp, NP_001366483.1:p.Arg274Trp, NP_001366490.1:p.Arg274Trp, NP_001366491.1:p.Arg274Trp, NP_001366482.1:p.Arg274Trp, NP_001366478.1:p.Arg274Trp, NP_001366485.1:p.Arg274Trp, NP_001366481.1:p.Arg274Trp, NP_001366484.1:p.Arg274Trp, NP_001366477.1:p.Arg274Trp, NP_001366488.1:p.Arg274Trp, NP_001366479.1:p.Arg274Trp, XP_047294525.1:p.Arg274Trp, XP_047294528.1:p.Arg274Trp, XP_047294531.1:p.Arg274Trp, XP_047294526.1:p.Arg274Trp, XP_047294532.1:p.Arg274Trp, XP_047294527.1:p.Arg274Trp, XP_047294530.1:p.Arg274Trp, XP_047294533.1:p.Arg274Trp, XP_047294529.1:p.Arg274Trp

                                      19.

                                      rs1468191286 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:11170078 (GRCh38)
                                        19:11280754 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:11170077:C:T
                                        Gene:
                                        KANK2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.11170078C>T, NC_000019.9:g.11280754C>T, NG_051186.1:g.32490G>A, NM_015493.7:c.2406G>A, NM_015493.6:c.2406G>A, NM_001136191.3:c.2382G>A, NM_001136191.2:c.2382G>A, NM_001329451.2:c.2382G>A, NM_001329451.1:c.2382G>A, NM_001379563.1:c.2382G>A, NM_001379558.1:c.2382G>A, NM_001379551.1:c.2406G>A, NM_001379560.1:c.2382G>A, NM_001379557.1:c.2382G>A, NM_001379554.1:c.2406G>A, NM_001379561.1:c.2382G>A, NM_001379562.1:c.2382G>A, NM_001379553.1:c.2406G>A, NM_001379549.1:c.2406G>A, NM_001379556.1:c.2382G>A, NM_001379552.1:c.2406G>A, NM_001379555.1:c.2382G>A, NM_001379548.1:c.2406G>A, NM_001379559.1:c.2382G>A, NM_001379550.1:c.2406G>A, XM_047438569.1:c.2406G>A, XM_047438572.1:c.2382G>A, XM_047438575.1:c.2382G>A, XM_047438570.1:c.2406G>A, XM_047438576.1:c.2382G>A, XM_047438571.1:c.2406G>A, XM_047438574.1:c.2382G>A, XM_047438577.1:c.2382G>A, XM_047438573.1:c.2382G>A

                                        20.

                                        rs1466965773 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:11178653 (GRCh38)
                                          19:11289329 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:11178652:C:T
                                          Gene:
                                          KANK2 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000019.10:g.11178653C>T, NC_000019.9:g.11289329C>T, NG_051186.1:g.23915G>A, NM_015493.7:c.1317G>A, NM_015493.6:c.1317G>A, NM_001136191.3:c.1317G>A, NM_001136191.2:c.1317G>A, NM_001329451.2:c.1317G>A, NM_001329451.1:c.1317G>A, NM_001379563.1:c.1317G>A, NM_001379558.1:c.1317G>A, NM_001379551.1:c.1317G>A, NM_001379560.1:c.1317G>A, NM_001379557.1:c.1317G>A, NM_001379554.1:c.1317G>A, NM_001379561.1:c.1317G>A, NM_001379562.1:c.1317G>A, NM_001379553.1:c.1317G>A, NM_001379549.1:c.1317G>A, NM_001379556.1:c.1317G>A, NM_001379552.1:c.1317G>A, NM_001379555.1:c.1317G>A, NM_001379548.1:c.1317G>A, NM_001379559.1:c.1317G>A, NM_001379550.1:c.1317G>A, XM_047438569.1:c.1317G>A, XM_047438572.1:c.1317G>A, XM_047438575.1:c.1317G>A, XM_047438570.1:c.1317G>A, XM_047438576.1:c.1317G>A, XM_047438571.1:c.1317G>A, XM_047438574.1:c.1317G>A, XM_047438577.1:c.1317G>A, XM_047438573.1:c.1317G>A

                                          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...