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Items: 1 to 20 of 460

1.

rs1490904423 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    12:132619902 (GRCh38)
    12:133196488 (GRCh37)
    Canonical SPDI:
    NC_000012.12:132619901:T:G
    Gene:
    P2RX2 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000012.12:g.132619902T>G, NC_000012.11:g.133196488T>G, NG_033909.1:g.6123T>G, NM_170683.4:c.440T>G, NM_170683.3:c.440T>G, NM_170683.2:c.440T>G, NM_170682.4:c.440T>G, NM_170682.3:c.440T>G, NM_170682.2:c.440T>G, NM_016318.4:c.368T>G, NM_016318.3:c.368T>G, NM_016318.2:c.368T>G, NM_174873.3:c.440T>G, NM_174873.2:c.440T>G, NM_174873.1:c.440T>G, NM_174872.3:c.164T>G, NM_174872.2:c.164T>G, NM_174872.1:c.164T>G, NM_001282165.2:c.440T>G, NM_001282165.1:c.440T>G, NM_001282164.2:c.368T>G, NM_001282164.1:c.368T>G, XM_005266156.6:c.440T>G, XM_005266156.5:c.440T>G, XM_005266156.4:c.440T>G, XM_005266156.3:c.440T>G, XM_005266156.2:c.440T>G, XM_005266156.1:c.440T>G, XM_005266155.6:c.440T>G, XM_005266155.5:c.440T>G, XM_005266155.4:c.440T>G, XM_005266155.3:c.440T>G, XM_005266155.2:c.440T>G, XM_005266155.1:c.440T>G, XM_005266154.5:c.440T>G, XM_005266154.4:c.440T>G, XM_005266154.3:c.440T>G, XM_005266154.2:c.440T>G, XM_005266154.1:c.440T>G, XM_011534786.4:c.368T>G, XM_011534786.3:c.368T>G, XM_011534786.2:c.368T>G, XM_011534786.1:c.368T>G, XM_017019035.3:c.440T>G, XM_017019035.2:c.440T>G, XM_017019035.1:c.440T>G, NP_733783.1:p.Leu147Arg, NP_733782.1:p.Leu147Arg, NP_057402.1:p.Leu123Arg, NP_777362.1:p.Leu147Arg, NP_777361.1:p.Leu55Arg, NP_001269094.1:p.Leu147Arg, NP_001269093.1:p.Leu123Arg, XP_005266213.1:p.Leu147Arg, XP_005266212.1:p.Leu147Arg, XP_005266211.1:p.Leu147Arg, XP_011533088.1:p.Leu123Arg, XP_016874524.1:p.Leu147Arg

    2.

    rs1488591899 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      12:132620289 (GRCh38)
      12:133196875 (GRCh37)
      Canonical SPDI:
      NC_000012.12:132620288:C:G
      Gene:
      P2RX2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000021/3 (GnomAD)
      HGVS:
      NC_000012.12:g.132620289C>G, NC_000012.11:g.133196875C>G, NG_033909.1:g.6510C>G, NM_012226.5:c.361C>G, NM_012226.4:c.361C>G, NM_012226.3:c.361C>G, NM_170683.4:c.577C>G, NM_170683.3:c.577C>G, NM_170683.2:c.577C>G, NM_170682.4:c.577C>G, NM_170682.3:c.577C>G, NM_170682.2:c.577C>G, NM_016318.4:c.505C>G, NM_016318.3:c.505C>G, NM_016318.2:c.505C>G, NM_174873.3:c.577C>G, NM_174873.2:c.577C>G, NM_174873.1:c.577C>G, NM_174872.3:c.301C>G, NM_174872.2:c.301C>G, NM_174872.1:c.301C>G, NM_001282165.2:c.577C>G, NM_001282165.1:c.577C>G, NM_001282164.2:c.470C>G, NM_001282164.1:c.470C>G, XM_005266156.6:c.577C>G, XM_005266156.5:c.577C>G, XM_005266156.4:c.577C>G, XM_005266156.3:c.577C>G, XM_005266156.2:c.577C>G, XM_005266156.1:c.577C>G, XM_005266155.6:c.577C>G, XM_005266155.5:c.577C>G, XM_005266155.4:c.577C>G, XM_005266155.3:c.577C>G, XM_005266155.2:c.577C>G, XM_005266155.1:c.577C>G, XM_005266154.5:c.577C>G, XM_005266154.4:c.577C>G, XM_005266154.3:c.577C>G, XM_005266154.2:c.577C>G, XM_005266154.1:c.577C>G, XM_011534786.4:c.505C>G, XM_011534786.3:c.505C>G, XM_011534786.2:c.505C>G, XM_011534786.1:c.505C>G, XM_017019035.3:c.577C>G, XM_017019035.2:c.577C>G, XM_017019035.1:c.577C>G, NP_036358.2:p.Pro121Ala, NP_733783.1:p.Pro193Ala, NP_733782.1:p.Pro193Ala, NP_057402.1:p.Pro169Ala, NP_777362.1:p.Pro193Ala, NP_777361.1:p.Pro101Ala, NP_001269094.1:p.Pro193Ala, NP_001269093.1:p.Pro157Arg, XP_005266213.1:p.Pro193Ala, XP_005266212.1:p.Pro193Ala, XP_005266211.1:p.Pro193Ala, XP_011533088.1:p.Pro169Ala, XP_016874524.1:p.Pro193Ala

      3.

      rs1488209507 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        12:132621088 (GRCh38)
        12:133197675 (GRCh37)
        Canonical SPDI:
        NC_000012.12:132621088:TT:TTT
        Gene:
        P2RX2 (Varview)
        Functional Consequence:
        coding_sequence_variant,stop_gained
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTT=0./0 (ALFA)
        T=0.000008/2 (GnomAD_exomes)
        T=0.000014/2 (GnomAD)
        T=0.000023/6 (TOPMED)
        HGVS:
        NC_000012.12:g.132621090dup, NC_000012.11:g.133197676dup, NG_033909.1:g.7311dup, NM_012226.5:c.648dup, NM_012226.4:c.648dup, NM_012226.3:c.648dup, NM_170683.4:c.864dup, NM_170683.3:c.864dup, NM_170683.2:c.864dup, NM_170682.4:c.864dup, NM_170682.3:c.864dup, NM_170682.2:c.864dup, NM_016318.4:c.792dup, NM_016318.3:c.792dup, NM_016318.2:c.792dup, NM_174873.3:c.864dup, NM_174873.2:c.864dup, NM_174873.1:c.864dup, NM_174872.3:c.588dup, NM_174872.2:c.588dup, NM_174872.1:c.588dup, NM_001282165.2:c.864dup, NM_001282165.1:c.864dup, NM_001282164.2:c.762dup, NM_001282164.1:c.762dup, XM_005266156.6:c.864dup, XM_005266156.5:c.864dup, XM_005266156.4:c.864dup, XM_005266156.3:c.864dup, XM_005266156.2:c.864dup, XM_005266156.1:c.864dup, XM_005266155.6:c.864dup, XM_005266155.5:c.864dup, XM_005266155.4:c.864dup, XM_005266155.3:c.864dup, XM_005266155.2:c.864dup, XM_005266155.1:c.864dup, XM_005266154.5:c.864dup, XM_005266154.4:c.864dup, XM_005266154.3:c.864dup, XM_005266154.2:c.864dup, XM_005266154.1:c.864dup, XM_011534786.4:c.792dup, XM_011534786.3:c.792dup, XM_011534786.2:c.792dup, XM_011534786.1:c.792dup, XM_017019035.3:c.864dup, XM_017019035.2:c.864dup, XM_017019035.1:c.864dup, NP_036358.2:p.Asp217Ter, NP_733783.1:p.Asp289Ter, NP_733782.1:p.Asp289Ter, NP_057402.1:p.Asp265Ter, NP_777362.1:p.Asp289Ter, NP_777361.1:p.Asp197Ter, NP_001269094.1:p.Asp289Ter, NP_001269093.1:p.Asp255Ter, XP_005266213.1:p.Asp289Ter, XP_005266212.1:p.Asp289Ter, XP_005266211.1:p.Asp289Ter, XP_011533088.1:p.Asp265Ter, XP_016874524.1:p.Asp289Ter

        4.

        rs1486261484 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          12:132621626 (GRCh38)
          12:133198212 (GRCh37)
          Canonical SPDI:
          NC_000012.12:132621625:T:G
          Gene:
          P2RX2 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.132621626T>G, NC_000012.11:g.133198212T>G, NG_033909.1:g.7847T>G, NM_012226.5:c.854T>G, NM_012226.4:c.854T>G, NM_012226.3:c.854T>G, NM_170683.4:c.1148T>G, NM_170683.3:c.1148T>G, NM_170683.2:c.1148T>G, NM_170682.4:c.1070T>G, NM_170682.3:c.1070T>G, NM_170682.2:c.1070T>G, NM_016318.4:c.998T>G, NM_016318.3:c.998T>G, NM_016318.2:c.998T>G, NM_174873.3:c.1070T>G, NM_174873.2:c.1070T>G, NM_174873.1:c.1070T>G, NM_174872.3:c.794T>G, NM_174872.2:c.794T>G, NM_174872.1:c.794T>G, NM_001282165.2:c.*117T>G, NM_001282165.1:c.*117T>G, NM_001282164.2:c.968T>G, NM_001282164.1:c.968T>G, XM_005266156.6:c.1148T>G, XM_005266156.5:c.1148T>G, XM_005266156.4:c.1148T>G, XM_005266156.3:c.1148T>G, XM_005266156.2:c.1148T>G, XM_005266156.1:c.1148T>G, XM_005266155.6:c.1148T>G, XM_005266155.5:c.1148T>G, XM_005266155.4:c.1148T>G, XM_005266155.3:c.1148T>G, XM_005266155.2:c.1148T>G, XM_005266155.1:c.1148T>G, XM_005266154.5:c.1193T>G, XM_005266154.4:c.1193T>G, XM_005266154.3:c.1193T>G, XM_005266154.2:c.1193T>G, XM_005266154.1:c.1193T>G, XM_011534786.4:c.1076T>G, XM_011534786.3:c.1076T>G, XM_011534786.2:c.1076T>G, XM_011534786.1:c.1076T>G, XM_017019035.3:c.1070T>G, XM_017019035.2:c.1070T>G, XM_017019035.1:c.1070T>G, NP_036358.2:p.Phe285Cys, NP_733783.1:p.Phe383Cys, NP_733782.1:p.Phe357Cys, NP_057402.1:p.Phe333Cys, NP_777362.1:p.Phe357Cys, NP_777361.1:p.Phe265Cys, NP_001269093.1:p.Phe323Cys, XP_005266213.1:p.Phe383Cys, XP_005266212.1:p.Phe383Cys, XP_005266211.1:p.Phe398Cys, XP_011533088.1:p.Phe359Cys, XP_016874524.1:p.Phe357Cys

          5.

          rs1479255984 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:132621053 (GRCh38)
            12:133197639 (GRCh37)
            Canonical SPDI:
            NC_000012.12:132621052:C:T
            Gene:
            P2RX2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000012.12:g.132621053C>T, NC_000012.11:g.133197639C>T, NG_033909.1:g.7274C>T, NM_012226.5:c.611C>T, NM_012226.4:c.611C>T, NM_012226.3:c.611C>T, NM_170683.4:c.827C>T, NM_170683.3:c.827C>T, NM_170683.2:c.827C>T, NM_170682.4:c.827C>T, NM_170682.3:c.827C>T, NM_170682.2:c.827C>T, NM_016318.4:c.755C>T, NM_016318.3:c.755C>T, NM_016318.2:c.755C>T, NM_174873.3:c.827C>T, NM_174873.2:c.827C>T, NM_174873.1:c.827C>T, NM_174872.3:c.551C>T, NM_174872.2:c.551C>T, NM_174872.1:c.551C>T, NM_001282165.2:c.827C>T, NM_001282165.1:c.827C>T, NM_001282164.2:c.725C>T, NM_001282164.1:c.725C>T, XM_005266156.6:c.827C>T, XM_005266156.5:c.827C>T, XM_005266156.4:c.827C>T, XM_005266156.3:c.827C>T, XM_005266156.2:c.827C>T, XM_005266156.1:c.827C>T, XM_005266155.6:c.827C>T, XM_005266155.5:c.827C>T, XM_005266155.4:c.827C>T, XM_005266155.3:c.827C>T, XM_005266155.2:c.827C>T, XM_005266155.1:c.827C>T, XM_005266154.5:c.827C>T, XM_005266154.4:c.827C>T, XM_005266154.3:c.827C>T, XM_005266154.2:c.827C>T, XM_005266154.1:c.827C>T, XM_011534786.4:c.755C>T, XM_011534786.3:c.755C>T, XM_011534786.2:c.755C>T, XM_011534786.1:c.755C>T, XM_017019035.3:c.827C>T, XM_017019035.2:c.827C>T, XM_017019035.1:c.827C>T, NP_036358.2:p.Ala204Val, NP_733783.1:p.Ala276Val, NP_733782.1:p.Ala276Val, NP_057402.1:p.Ala252Val, NP_777362.1:p.Ala276Val, NP_777361.1:p.Ala184Val, NP_001269094.1:p.Ala276Val, NP_001269093.1:p.Ala242Val, XP_005266213.1:p.Ala276Val, XP_005266212.1:p.Ala276Val, XP_005266211.1:p.Ala276Val, XP_011533088.1:p.Ala252Val, XP_016874524.1:p.Ala276Val

            6.

            rs1478288639 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TCA>- [Show Flanks]
              Chromosome:
              12:132621302 (GRCh38)
              12:133197888 (GRCh37)
              Canonical SPDI:
              NC_000012.12:132621298:TCATCA:TCA
              Gene:
              P2RX2 (Varview)
              Functional Consequence:
              coding_sequence_variant,inframe_deletion
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TCATCA=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              NC_000012.12:g.132621299TCA[1], NC_000012.11:g.133197885TCA[1], NG_033909.1:g.7520TCA[1], NM_012226.5:c.734TCA[1], NM_012226.4:c.734TCA[1], NM_012226.3:c.734TCA[1], NM_170683.4:c.950TCA[1], NM_170683.3:c.950TCA[1], NM_170683.2:c.950TCA[1], NM_170682.4:c.950TCA[1], NM_170682.3:c.950TCA[1], NM_170682.2:c.950TCA[1], NM_016318.4:c.878TCA[1], NM_016318.3:c.878TCA[1], NM_016318.2:c.878TCA[1], NM_174873.3:c.950TCA[1], NM_174873.2:c.950TCA[1], NM_174873.1:c.950TCA[1], NM_174872.3:c.674TCA[1], NM_174872.2:c.674TCA[1], NM_174872.1:c.674TCA[1], NM_001282165.2:c.950TCA[1], NM_001282165.1:c.950TCA[1], NM_001282164.2:c.848TCA[1], NM_001282164.1:c.848TCA[1], XM_005266156.6:c.950TCA[1], XM_005266156.5:c.950TCA[1], XM_005266156.4:c.950TCA[1], XM_005266156.3:c.950TCA[1], XM_005266156.2:c.950TCA[1], XM_005266156.1:c.950TCA[1], XM_005266155.6:c.950TCA[1], XM_005266155.5:c.950TCA[1], XM_005266155.4:c.950TCA[1], XM_005266155.3:c.950TCA[1], XM_005266155.2:c.950TCA[1], XM_005266155.1:c.950TCA[1], XM_005266154.5:c.1073TCA[1], XM_005266154.4:c.1073TCA[1], XM_005266154.3:c.1073TCA[1], XM_005266154.2:c.1073TCA[1], XM_005266154.1:c.1073TCA[1], XM_011534786.4:c.878TCA[1], XM_011534786.3:c.878TCA[1], XM_011534786.2:c.878TCA[1], XM_011534786.1:c.878TCA[1], XM_017019035.3:c.950TCA[1], XM_017019035.2:c.950TCA[1], XM_017019035.1:c.950TCA[1], NP_036358.2:p.Ile246del, NP_733783.1:p.Ile318del, NP_733782.1:p.Ile318del, NP_057402.1:p.Ile294del, NP_777362.1:p.Ile318del, NP_777361.1:p.Ile226del, NP_001269094.1:p.Ile318del, NP_001269093.1:p.Ile284del, XP_005266213.1:p.Ile318del, XP_005266212.1:p.Ile318del, XP_005266211.1:p.Ile359del, XP_011533088.1:p.Ile294del, XP_016874524.1:p.Ile318del

              7.

              rs1477775736 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:132620553 (GRCh38)
                12:133197139 (GRCh37)
                Canonical SPDI:
                NC_000012.12:132620552:T:C
                Gene:
                P2RX2 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.132620553T>C, NC_000012.11:g.133197139T>C, NG_033909.1:g.6774T>C, NM_012226.5:c.528T>C, NM_012226.4:c.528T>C, NM_012226.3:c.528T>C, NM_170683.4:c.744T>C, NM_170683.3:c.744T>C, NM_170683.2:c.744T>C, NM_170682.4:c.744T>C, NM_170682.3:c.744T>C, NM_170682.2:c.744T>C, NM_016318.4:c.672T>C, NM_016318.3:c.672T>C, NM_016318.2:c.672T>C, NM_174873.3:c.744T>C, NM_174873.2:c.744T>C, NM_174873.1:c.744T>C, NM_174872.3:c.468T>C, NM_174872.2:c.468T>C, NM_174872.1:c.468T>C, NM_001282165.2:c.744T>C, NM_001282165.1:c.744T>C, NM_001282164.2:c.637T>C, NM_001282164.1:c.637T>C, XM_005266156.6:c.744T>C, XM_005266156.5:c.744T>C, XM_005266156.4:c.744T>C, XM_005266156.3:c.744T>C, XM_005266156.2:c.744T>C, XM_005266156.1:c.744T>C, XM_005266155.6:c.744T>C, XM_005266155.5:c.744T>C, XM_005266155.4:c.744T>C, XM_005266155.3:c.744T>C, XM_005266155.2:c.744T>C, XM_005266155.1:c.744T>C, XM_005266154.5:c.744T>C, XM_005266154.4:c.744T>C, XM_005266154.3:c.744T>C, XM_005266154.2:c.744T>C, XM_005266154.1:c.744T>C, XM_011534786.4:c.672T>C, XM_011534786.3:c.672T>C, XM_011534786.2:c.672T>C, XM_011534786.1:c.672T>C, XM_017019035.3:c.744T>C, XM_017019035.2:c.744T>C, XM_017019035.1:c.744T>C, NP_001269093.1:p.Trp213Arg

                8.

                rs1477570064 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:132619889 (GRCh38)
                  12:133196475 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:132619888:G:A
                  Gene:
                  P2RX2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000012.12:g.132619889G>A, NC_000012.11:g.133196475G>A, NG_033909.1:g.6110G>A, NM_170683.4:c.427G>A, NM_170683.3:c.427G>A, NM_170683.2:c.427G>A, NM_170682.4:c.427G>A, NM_170682.3:c.427G>A, NM_170682.2:c.427G>A, NM_016318.4:c.355G>A, NM_016318.3:c.355G>A, NM_016318.2:c.355G>A, NM_174873.3:c.427G>A, NM_174873.2:c.427G>A, NM_174873.1:c.427G>A, NM_174872.3:c.151G>A, NM_174872.2:c.151G>A, NM_174872.1:c.151G>A, NM_001282165.2:c.427G>A, NM_001282165.1:c.427G>A, NM_001282164.2:c.355G>A, NM_001282164.1:c.355G>A, XM_005266156.6:c.427G>A, XM_005266156.5:c.427G>A, XM_005266156.4:c.427G>A, XM_005266156.3:c.427G>A, XM_005266156.2:c.427G>A, XM_005266156.1:c.427G>A, XM_005266155.6:c.427G>A, XM_005266155.5:c.427G>A, XM_005266155.4:c.427G>A, XM_005266155.3:c.427G>A, XM_005266155.2:c.427G>A, XM_005266155.1:c.427G>A, XM_005266154.5:c.427G>A, XM_005266154.4:c.427G>A, XM_005266154.3:c.427G>A, XM_005266154.2:c.427G>A, XM_005266154.1:c.427G>A, XM_011534786.4:c.355G>A, XM_011534786.3:c.355G>A, XM_011534786.2:c.355G>A, XM_011534786.1:c.355G>A, XM_017019035.3:c.427G>A, XM_017019035.2:c.427G>A, XM_017019035.1:c.427G>A, NP_733783.1:p.Val143Met, NP_733782.1:p.Val143Met, NP_057402.1:p.Val119Met, NP_777362.1:p.Val143Met, NP_777361.1:p.Val51Met, NP_001269094.1:p.Val143Met, NP_001269093.1:p.Val119Met, XP_005266213.1:p.Val143Met, XP_005266212.1:p.Val143Met, XP_005266211.1:p.Val143Met, XP_011533088.1:p.Val119Met, XP_016874524.1:p.Val143Met

                  9.

                  rs1477199641 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:132621047 (GRCh38)
                    12:133197633 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:132621046:T:C
                    Gene:
                    P2RX2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.132621047T>C, NC_000012.11:g.133197633T>C, NG_033909.1:g.7268T>C, NM_012226.5:c.605T>C, NM_012226.4:c.605T>C, NM_012226.3:c.605T>C, NM_170683.4:c.821T>C, NM_170683.3:c.821T>C, NM_170683.2:c.821T>C, NM_170682.4:c.821T>C, NM_170682.3:c.821T>C, NM_170682.2:c.821T>C, NM_016318.4:c.749T>C, NM_016318.3:c.749T>C, NM_016318.2:c.749T>C, NM_174873.3:c.821T>C, NM_174873.2:c.821T>C, NM_174873.1:c.821T>C, NM_174872.3:c.545T>C, NM_174872.2:c.545T>C, NM_174872.1:c.545T>C, NM_001282165.2:c.821T>C, NM_001282165.1:c.821T>C, NM_001282164.2:c.719T>C, NM_001282164.1:c.719T>C, XM_005266156.6:c.821T>C, XM_005266156.5:c.821T>C, XM_005266156.4:c.821T>C, XM_005266156.3:c.821T>C, XM_005266156.2:c.821T>C, XM_005266156.1:c.821T>C, XM_005266155.6:c.821T>C, XM_005266155.5:c.821T>C, XM_005266155.4:c.821T>C, XM_005266155.3:c.821T>C, XM_005266155.2:c.821T>C, XM_005266155.1:c.821T>C, XM_005266154.5:c.821T>C, XM_005266154.4:c.821T>C, XM_005266154.3:c.821T>C, XM_005266154.2:c.821T>C, XM_005266154.1:c.821T>C, XM_011534786.4:c.749T>C, XM_011534786.3:c.749T>C, XM_011534786.2:c.749T>C, XM_011534786.1:c.749T>C, XM_017019035.3:c.821T>C, XM_017019035.2:c.821T>C, XM_017019035.1:c.821T>C, NP_036358.2:p.Leu202Pro, NP_733783.1:p.Leu274Pro, NP_733782.1:p.Leu274Pro, NP_057402.1:p.Leu250Pro, NP_777362.1:p.Leu274Pro, NP_777361.1:p.Leu182Pro, NP_001269094.1:p.Leu274Pro, NP_001269093.1:p.Leu240Pro, XP_005266213.1:p.Leu274Pro, XP_005266212.1:p.Leu274Pro, XP_005266211.1:p.Leu274Pro, XP_011533088.1:p.Leu250Pro, XP_016874524.1:p.Leu274Pro

                    10.

                    rs1476809388 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      12:132621324 (GRCh38)
                      12:133197910 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:132621323:T:G
                      Gene:
                      P2RX2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000012.12:g.132621324T>G, NC_000012.11:g.133197910T>G, NG_033909.1:g.7545T>G, NM_012226.5:c.759T>G, NM_012226.4:c.759T>G, NM_012226.3:c.759T>G, NM_170683.4:c.975T>G, NM_170683.3:c.975T>G, NM_170683.2:c.975T>G, NM_170682.4:c.975T>G, NM_170682.3:c.975T>G, NM_170682.2:c.975T>G, NM_016318.4:c.903T>G, NM_016318.3:c.903T>G, NM_016318.2:c.903T>G, NM_174873.3:c.975T>G, NM_174873.2:c.975T>G, NM_174873.1:c.975T>G, NM_174872.3:c.699T>G, NM_174872.2:c.699T>G, NM_174872.1:c.699T>G, NM_001282165.2:c.975T>G, NM_001282165.1:c.975T>G, NM_001282164.2:c.873T>G, NM_001282164.1:c.873T>G, XM_005266156.6:c.975T>G, XM_005266156.5:c.975T>G, XM_005266156.4:c.975T>G, XM_005266156.3:c.975T>G, XM_005266156.2:c.975T>G, XM_005266156.1:c.975T>G, XM_005266155.6:c.975T>G, XM_005266155.5:c.975T>G, XM_005266155.4:c.975T>G, XM_005266155.3:c.975T>G, XM_005266155.2:c.975T>G, XM_005266155.1:c.975T>G, XM_005266154.5:c.1098T>G, XM_005266154.4:c.1098T>G, XM_005266154.3:c.1098T>G, XM_005266154.2:c.1098T>G, XM_005266154.1:c.1098T>G, XM_011534786.4:c.903T>G, XM_011534786.3:c.903T>G, XM_011534786.2:c.903T>G, XM_011534786.1:c.903T>G, XM_017019035.3:c.975T>G, XM_017019035.2:c.975T>G, XM_017019035.1:c.975T>G, NP_036358.2:p.Ile253Met, NP_733783.1:p.Ile325Met, NP_733782.1:p.Ile325Met, NP_057402.1:p.Ile301Met, NP_777362.1:p.Ile325Met, NP_777361.1:p.Ile233Met, NP_001269094.1:p.Ile325Met, NP_001269093.1:p.Ile291Met, XP_005266213.1:p.Ile325Met, XP_005266212.1:p.Ile325Met, XP_005266211.1:p.Ile366Met, XP_011533088.1:p.Ile301Met, XP_016874524.1:p.Ile325Met

                      11.

                      rs1470828152 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        G>- [Show Flanks]
                        Chromosome:
                        12:132618878 (GRCh38)
                        12:133195464 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:132618877:G:
                        Gene:
                        P2RX2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,frameshift_variant
                        HGVS:
                        NC_000012.12:g.132618878del, NC_000012.11:g.133195464del, NG_033909.1:g.5099del, NM_012226.5:c.62del, NM_012226.4:c.62del, NM_012226.3:c.62del, NM_170683.4:c.62del, NM_170683.3:c.62del, NM_170683.2:c.62del, NM_170682.4:c.62del, NM_170682.3:c.62del, NM_170682.2:c.62del, NM_016318.4:c.62del, NM_016318.3:c.62del, NM_016318.2:c.62del, NM_174873.3:c.62del, NM_174873.2:c.62del, NM_174873.1:c.62del, NM_174872.3:c.62del, NM_174872.2:c.62del, NM_174872.1:c.62del, NM_001282165.2:c.62del, NM_001282165.1:c.62del, NM_001282164.2:c.62del, NM_001282164.1:c.62del, XM_005266156.6:c.62del, XM_005266156.5:c.62del, XM_005266156.4:c.62del, XM_005266156.3:c.62del, XM_005266156.2:c.62del, XM_005266156.1:c.62del, XM_005266155.6:c.62del, XM_005266155.5:c.62del, XM_005266155.4:c.62del, XM_005266155.3:c.62del, XM_005266155.2:c.62del, XM_005266155.1:c.62del, XM_005266154.5:c.62del, XM_005266154.4:c.62del, XM_005266154.3:c.62del, XM_005266154.2:c.62del, XM_005266154.1:c.62del, XM_011534786.4:c.62del, XM_011534786.3:c.62del, XM_011534786.2:c.62del, XM_011534786.1:c.62del, XM_017019035.3:c.62del, XM_017019035.2:c.62del, XM_017019035.1:c.62del, NP_036358.2:p.Cys21fs, NP_733783.1:p.Cys21fs, NP_733782.1:p.Cys21fs, NP_057402.1:p.Cys21fs, NP_777362.1:p.Cys21fs, NP_777361.1:p.Cys21fs, NP_001269094.1:p.Cys21fs, NP_001269093.1:p.Cys21fs, XP_005266213.1:p.Cys21fs, XP_005266212.1:p.Cys21fs, XP_005266211.1:p.Cys21fs, XP_011533088.1:p.Cys21fs, XP_016874524.1:p.Cys21fs

                        12.

                        rs1470098705 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          12:132620047 (GRCh38)
                          12:133196633 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:132620046:A:C
                          Gene:
                          P2RX2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_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_000012.12:g.132620047A>C, NC_000012.11:g.133196633A>C, NG_033909.1:g.6268A>C, NM_012226.5:c.289A>C, NM_012226.4:c.289A>C, NM_012226.3:c.289A>C, NM_170683.4:c.505A>C, NM_170683.3:c.505A>C, NM_170683.2:c.505A>C, NM_170682.4:c.505A>C, NM_170682.3:c.505A>C, NM_170682.2:c.505A>C, NM_016318.4:c.433A>C, NM_016318.3:c.433A>C, NM_016318.2:c.433A>C, NM_174873.3:c.505A>C, NM_174873.2:c.505A>C, NM_174873.1:c.505A>C, NM_174872.3:c.229A>C, NM_174872.2:c.229A>C, NM_174872.1:c.229A>C, NM_001282165.2:c.505A>C, NM_001282165.1:c.505A>C, NM_001282164.2:c.398A>C, NM_001282164.1:c.398A>C, XM_005266156.6:c.505A>C, XM_005266156.5:c.505A>C, XM_005266156.4:c.505A>C, XM_005266156.3:c.505A>C, XM_005266156.2:c.505A>C, XM_005266156.1:c.505A>C, XM_005266155.6:c.505A>C, XM_005266155.5:c.505A>C, XM_005266155.4:c.505A>C, XM_005266155.3:c.505A>C, XM_005266155.2:c.505A>C, XM_005266155.1:c.505A>C, XM_005266154.5:c.505A>C, XM_005266154.4:c.505A>C, XM_005266154.3:c.505A>C, XM_005266154.2:c.505A>C, XM_005266154.1:c.505A>C, XM_011534786.4:c.433A>C, XM_011534786.3:c.433A>C, XM_011534786.2:c.433A>C, XM_011534786.1:c.433A>C, XM_017019035.3:c.505A>C, XM_017019035.2:c.505A>C, XM_017019035.1:c.505A>C, NP_036358.2:p.Thr97Pro, NP_733783.1:p.Thr169Pro, NP_733782.1:p.Thr169Pro, NP_057402.1:p.Thr145Pro, NP_777362.1:p.Thr169Pro, NP_777361.1:p.Thr77Pro, NP_001269094.1:p.Thr169Pro, NP_001269093.1:p.Asp133Ala, XP_005266213.1:p.Thr169Pro, XP_005266212.1:p.Thr169Pro, XP_005266211.1:p.Thr169Pro, XP_011533088.1:p.Thr145Pro, XP_016874524.1:p.Thr169Pro

                          13.

                          rs1467085343 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->A [Show Flanks]
                            Chromosome:
                            12:132619882 (GRCh38)
                            12:133196469 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:132619882::A
                            Gene:
                            P2RX2 (Varview)
                            Functional Consequence:
                            intron_variant,frameshift_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.132619882_132619883insA, NC_000012.11:g.133196468_133196469insA, NG_033909.1:g.6103_6104insA, NM_170683.4:c.420_421insA, NM_170683.3:c.420_421insA, NM_170683.2:c.420_421insA, NM_170682.4:c.420_421insA, NM_170682.3:c.420_421insA, NM_170682.2:c.420_421insA, NM_016318.4:c.348_349insA, NM_016318.3:c.348_349insA, NM_016318.2:c.348_349insA, NM_174873.3:c.420_421insA, NM_174873.2:c.420_421insA, NM_174873.1:c.420_421insA, NM_174872.3:c.144_145insA, NM_174872.2:c.144_145insA, NM_174872.1:c.144_145insA, NM_001282165.2:c.420_421insA, NM_001282165.1:c.420_421insA, NM_001282164.2:c.348_349insA, NM_001282164.1:c.348_349insA, XM_005266156.6:c.420_421insA, XM_005266156.5:c.420_421insA, XM_005266156.4:c.420_421insA, XM_005266156.3:c.420_421insA, XM_005266156.2:c.420_421insA, XM_005266156.1:c.420_421insA, XM_005266155.6:c.420_421insA, XM_005266155.5:c.420_421insA, XM_005266155.4:c.420_421insA, XM_005266155.3:c.420_421insA, XM_005266155.2:c.420_421insA, XM_005266155.1:c.420_421insA, XM_005266154.5:c.420_421insA, XM_005266154.4:c.420_421insA, XM_005266154.3:c.420_421insA, XM_005266154.2:c.420_421insA, XM_005266154.1:c.420_421insA, XM_011534786.4:c.348_349insA, XM_011534786.3:c.348_349insA, XM_011534786.2:c.348_349insA, XM_011534786.1:c.348_349insA, XM_017019035.3:c.420_421insA, XM_017019035.2:c.420_421insA, XM_017019035.1:c.420_421insA, NP_733783.1:p.Asp141fs, NP_733782.1:p.Asp141fs, NP_057402.1:p.Asp117fs, NP_777362.1:p.Asp141fs, NP_777361.1:p.Asp49fs, NP_001269094.1:p.Asp141fs, NP_001269093.1:p.Asp117fs, XP_005266213.1:p.Asp141fs, XP_005266212.1:p.Asp141fs, XP_005266211.1:p.Asp141fs, XP_011533088.1:p.Asp117fs, XP_016874524.1:p.Asp141fs

                            14.

                            rs1466604811 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:132618830 (GRCh38)
                              12:133195416 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:132618829:A:G
                              Gene:
                              P2RX2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000012.12:g.132618830A>G, NC_000012.11:g.133195416A>G, NG_033909.1:g.5051A>G, NM_012226.5:c.14A>G, NM_012226.4:c.14A>G, NM_012226.3:c.14A>G, NM_170683.4:c.14A>G, NM_170683.3:c.14A>G, NM_170683.2:c.14A>G, NM_170682.4:c.14A>G, NM_170682.3:c.14A>G, NM_170682.2:c.14A>G, NM_016318.4:c.14A>G, NM_016318.3:c.14A>G, NM_016318.2:c.14A>G, NM_174873.3:c.14A>G, NM_174873.2:c.14A>G, NM_174873.1:c.14A>G, NM_174872.3:c.14A>G, NM_174872.2:c.14A>G, NM_174872.1:c.14A>G, NM_001282165.2:c.14A>G, NM_001282165.1:c.14A>G, NM_001282164.2:c.14A>G, NM_001282164.1:c.14A>G, XM_005266156.6:c.14A>G, XM_005266156.5:c.14A>G, XM_005266156.4:c.14A>G, XM_005266156.3:c.14A>G, XM_005266156.2:c.14A>G, XM_005266156.1:c.14A>G, XM_005266155.6:c.14A>G, XM_005266155.5:c.14A>G, XM_005266155.4:c.14A>G, XM_005266155.3:c.14A>G, XM_005266155.2:c.14A>G, XM_005266155.1:c.14A>G, XM_005266154.5:c.14A>G, XM_005266154.4:c.14A>G, XM_005266154.3:c.14A>G, XM_005266154.2:c.14A>G, XM_005266154.1:c.14A>G, XM_011534786.4:c.14A>G, XM_011534786.3:c.14A>G, XM_011534786.2:c.14A>G, XM_011534786.1:c.14A>G, XM_017019035.3:c.14A>G, XM_017019035.2:c.14A>G, XM_017019035.1:c.14A>G, NP_036358.2:p.Gln5Arg, NP_733783.1:p.Gln5Arg, NP_733782.1:p.Gln5Arg, NP_057402.1:p.Gln5Arg, NP_777362.1:p.Gln5Arg, NP_777361.1:p.Gln5Arg, NP_001269094.1:p.Gln5Arg, NP_001269093.1:p.Gln5Arg, XP_005266213.1:p.Gln5Arg, XP_005266212.1:p.Gln5Arg, XP_005266211.1:p.Gln5Arg, XP_011533088.1:p.Gln5Arg, XP_016874524.1:p.Gln5Arg

                              15.

                              rs1458788301 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:132620055 (GRCh38)
                                12:133196641 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:132620054:G:A
                                Gene:
                                P2RX2 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000012.12:g.132620055G>A, NC_000012.11:g.133196641G>A, NG_033909.1:g.6276G>A, NM_012226.5:c.297G>A, NM_012226.4:c.297G>A, NM_012226.3:c.297G>A, NM_170683.4:c.513G>A, NM_170683.3:c.513G>A, NM_170683.2:c.513G>A, NM_170682.4:c.513G>A, NM_170682.3:c.513G>A, NM_170682.2:c.513G>A, NM_016318.4:c.441G>A, NM_016318.3:c.441G>A, NM_016318.2:c.441G>A, NM_174873.3:c.513G>A, NM_174873.2:c.513G>A, NM_174873.1:c.513G>A, NM_174872.3:c.237G>A, NM_174872.2:c.237G>A, NM_174872.1:c.237G>A, NM_001282165.2:c.513G>A, NM_001282165.1:c.513G>A, NM_001282164.2:c.406G>A, NM_001282164.1:c.406G>A, XM_005266156.6:c.513G>A, XM_005266156.5:c.513G>A, XM_005266156.4:c.513G>A, XM_005266156.3:c.513G>A, XM_005266156.2:c.513G>A, XM_005266156.1:c.513G>A, XM_005266155.6:c.513G>A, XM_005266155.5:c.513G>A, XM_005266155.4:c.513G>A, XM_005266155.3:c.513G>A, XM_005266155.2:c.513G>A, XM_005266155.1:c.513G>A, XM_005266154.5:c.513G>A, XM_005266154.4:c.513G>A, XM_005266154.3:c.513G>A, XM_005266154.2:c.513G>A, XM_005266154.1:c.513G>A, XM_011534786.4:c.441G>A, XM_011534786.3:c.441G>A, XM_011534786.2:c.441G>A, XM_011534786.1:c.441G>A, XM_017019035.3:c.513G>A, XM_017019035.2:c.513G>A, XM_017019035.1:c.513G>A, NP_001269093.1:p.Gly136Ser

                                16.

                                rs1458565943 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  12:132619853 (GRCh38)
                                  12:133196439 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:132619852:G:C
                                  Gene:
                                  P2RX2 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000012.12:g.132619853G>C, NC_000012.11:g.133196439G>C, NG_033909.1:g.6074G>C, NM_170683.4:c.391G>C, NM_170683.3:c.391G>C, NM_170683.2:c.391G>C, NM_170682.4:c.391G>C, NM_170682.3:c.391G>C, NM_170682.2:c.391G>C, NM_016318.4:c.319G>C, NM_016318.3:c.319G>C, NM_016318.2:c.319G>C, NM_174873.3:c.391G>C, NM_174873.2:c.391G>C, NM_174873.1:c.391G>C, NM_174872.3:c.115G>C, NM_174872.2:c.115G>C, NM_174872.1:c.115G>C, NM_001282165.2:c.391G>C, NM_001282165.1:c.391G>C, NM_001282164.2:c.319G>C, NM_001282164.1:c.319G>C, XM_005266156.6:c.391G>C, XM_005266156.5:c.391G>C, XM_005266156.4:c.391G>C, XM_005266156.3:c.391G>C, XM_005266156.2:c.391G>C, XM_005266156.1:c.391G>C, XM_005266155.6:c.391G>C, XM_005266155.5:c.391G>C, XM_005266155.4:c.391G>C, XM_005266155.3:c.391G>C, XM_005266155.2:c.391G>C, XM_005266155.1:c.391G>C, XM_005266154.5:c.391G>C, XM_005266154.4:c.391G>C, XM_005266154.3:c.391G>C, XM_005266154.2:c.391G>C, XM_005266154.1:c.391G>C, XM_011534786.4:c.319G>C, XM_011534786.3:c.319G>C, XM_011534786.2:c.319G>C, XM_011534786.1:c.319G>C, XM_017019035.3:c.391G>C, XM_017019035.2:c.391G>C, XM_017019035.1:c.391G>C, NP_733783.1:p.Val131Leu, NP_733782.1:p.Val131Leu, NP_057402.1:p.Val107Leu, NP_777362.1:p.Val131Leu, NP_777361.1:p.Val39Leu, NP_001269094.1:p.Val131Leu, NP_001269093.1:p.Val107Leu, XP_005266213.1:p.Val131Leu, XP_005266212.1:p.Val131Leu, XP_005266211.1:p.Val131Leu, XP_011533088.1:p.Val107Leu, XP_016874524.1:p.Val131Leu

                                  17.

                                  rs1453330274 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    12:132620499 (GRCh38)
                                    12:133197085 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:132620498:G:A
                                    Gene:
                                    P2RX2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000012.12:g.132620499G>A, NC_000012.11:g.133197085G>A, NG_033909.1:g.6720G>A, NM_012226.5:c.474G>A, NM_012226.4:c.474G>A, NM_012226.3:c.474G>A, NM_170683.4:c.690G>A, NM_170683.3:c.690G>A, NM_170683.2:c.690G>A, NM_170682.4:c.690G>A, NM_170682.3:c.690G>A, NM_170682.2:c.690G>A, NM_016318.4:c.618G>A, NM_016318.3:c.618G>A, NM_016318.2:c.618G>A, NM_174873.3:c.690G>A, NM_174873.2:c.690G>A, NM_174873.1:c.690G>A, NM_174872.3:c.414G>A, NM_174872.2:c.414G>A, NM_174872.1:c.414G>A, NM_001282165.2:c.690G>A, NM_001282165.1:c.690G>A, NM_001282164.2:c.583G>A, NM_001282164.1:c.583G>A, XM_005266156.6:c.690G>A, XM_005266156.5:c.690G>A, XM_005266156.4:c.690G>A, XM_005266156.3:c.690G>A, XM_005266156.2:c.690G>A, XM_005266156.1:c.690G>A, XM_005266155.6:c.690G>A, XM_005266155.5:c.690G>A, XM_005266155.4:c.690G>A, XM_005266155.3:c.690G>A, XM_005266155.2:c.690G>A, XM_005266155.1:c.690G>A, XM_005266154.5:c.690G>A, XM_005266154.4:c.690G>A, XM_005266154.3:c.690G>A, XM_005266154.2:c.690G>A, XM_005266154.1:c.690G>A, XM_011534786.4:c.618G>A, XM_011534786.3:c.618G>A, XM_011534786.2:c.618G>A, XM_011534786.1:c.618G>A, XM_017019035.3:c.690G>A, XM_017019035.2:c.690G>A, XM_017019035.1:c.690G>A, NP_001269093.1:p.Gly195Ser

                                    18.

                                    rs1452134784 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GA>- [Show Flanks]
                                      Chromosome:
                                      12:132621684 (GRCh38)
                                      12:133198270 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:132621682:AGA:A
                                      Gene:
                                      P2RX2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      -=0.000004/1 (GnomAD_exomes)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.132621684_132621685del, NC_000012.11:g.133198270_133198271del, NG_033909.1:g.7905_7906del, NM_012226.5:c.912_913del, NM_012226.4:c.912_913del, NM_012226.3:c.912_913del, NM_170683.4:c.1206_1207del, NM_170683.3:c.1206_1207del, NM_170683.2:c.1206_1207del, NM_170682.4:c.1128_1129del, NM_170682.3:c.1128_1129del, NM_170682.2:c.1128_1129del, NM_016318.4:c.1056_1057del, NM_016318.3:c.1056_1057del, NM_016318.2:c.1056_1057del, NM_174873.3:c.1128_1129del, NM_174873.2:c.1128_1129del, NM_174873.1:c.1128_1129del, NM_174872.3:c.852_853del, NM_174872.2:c.852_853del, NM_174872.1:c.852_853del, NM_001282165.2:c.*175_*176del, NM_001282165.1:c.*175_*176del, NM_001282164.2:c.1026_1027del, NM_001282164.1:c.1026_1027del, XM_005266156.6:c.1206_1207del, XM_005266156.5:c.1206_1207del, XM_005266156.4:c.1206_1207del, XM_005266156.3:c.1206_1207del, XM_005266156.2:c.1206_1207del, XM_005266156.1:c.1206_1207del, XM_005266155.6:c.1206_1207del, XM_005266155.5:c.1206_1207del, XM_005266155.4:c.1206_1207del, XM_005266155.3:c.1206_1207del, XM_005266155.2:c.1206_1207del, XM_005266155.1:c.1206_1207del, XM_005266154.5:c.1251_1252del, XM_005266154.4:c.1251_1252del, XM_005266154.3:c.1251_1252del, XM_005266154.2:c.1251_1252del, XM_005266154.1:c.1251_1252del, XM_011534786.4:c.1134_1135del, XM_011534786.3:c.1134_1135del, XM_011534786.2:c.1134_1135del, XM_011534786.1:c.1134_1135del, XM_017019035.3:c.1128_1129del, XM_017019035.2:c.1128_1129del, XM_017019035.1:c.1128_1129del, NP_036358.2:p.Lys305fs, NP_733783.1:p.Lys403fs, NP_733782.1:p.Lys377fs, NP_057402.1:p.Lys353fs, NP_777362.1:p.Lys377fs, NP_777361.1:p.Lys285fs, NP_001269093.1:p.Lys343fs, XP_005266213.1:p.Lys403fs, XP_005266212.1:p.Lys403fs, XP_005266211.1:p.Lys418fs, XP_011533088.1:p.Lys379fs, XP_016874524.1:p.Lys377fs

                                      19.

                                      rs1450203972 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        12:132619444 (GRCh38)
                                        12:133196030 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:132619443:T:G
                                        Gene:
                                        P2RX2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000012.12:g.132619444T>G, NC_000012.11:g.133196030T>G, NG_033909.1:g.5665T>G, NM_012226.5:c.111T>G, NM_012226.4:c.111T>G, NM_012226.3:c.111T>G, NM_170683.4:c.179T>G, NM_170683.3:c.179T>G, NM_170683.2:c.179T>G, NM_170682.4:c.179T>G, NM_170682.3:c.179T>G, NM_170682.2:c.179T>G, NM_016318.4:c.179T>G, NM_016318.3:c.179T>G, NM_016318.2:c.179T>G, NM_174873.3:c.179T>G, NM_174873.2:c.179T>G, NM_174873.1:c.179T>G, NM_001282165.2:c.179T>G, NM_001282165.1:c.179T>G, NM_001282164.2:c.179T>G, NM_001282164.1:c.179T>G, XM_005266156.6:c.179T>G, XM_005266156.5:c.179T>G, XM_005266156.4:c.179T>G, XM_005266156.3:c.179T>G, XM_005266156.2:c.179T>G, XM_005266156.1:c.179T>G, XM_005266155.6:c.179T>G, XM_005266155.5:c.179T>G, XM_005266155.4:c.179T>G, XM_005266155.3:c.179T>G, XM_005266155.2:c.179T>G, XM_005266155.1:c.179T>G, XM_005266154.5:c.179T>G, XM_005266154.4:c.179T>G, XM_005266154.3:c.179T>G, XM_005266154.2:c.179T>G, XM_005266154.1:c.179T>G, XM_011534786.4:c.179T>G, XM_011534786.3:c.179T>G, XM_011534786.2:c.179T>G, XM_011534786.1:c.179T>G, XM_017019035.3:c.179T>G, XM_017019035.2:c.179T>G, XM_017019035.1:c.179T>G, NP_733783.1:p.Val60Gly, NP_733782.1:p.Val60Gly, NP_057402.1:p.Val60Gly, NP_777362.1:p.Val60Gly, NP_001269094.1:p.Val60Gly, NP_001269093.1:p.Val60Gly, XP_005266213.1:p.Val60Gly, XP_005266212.1:p.Val60Gly, XP_005266211.1:p.Val60Gly, XP_011533088.1:p.Val60Gly, XP_016874524.1:p.Val60Gly

                                        20.

                                        rs1447530745 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          12:132619866 (GRCh38)
                                          12:133196452 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:132619865:C:G
                                          Gene:
                                          P2RX2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000012.12:g.132619866C>G, NC_000012.11:g.133196452C>G, NG_033909.1:g.6087C>G, NM_170683.4:c.404C>G, NM_170683.3:c.404C>G, NM_170683.2:c.404C>G, NM_170682.4:c.404C>G, NM_170682.3:c.404C>G, NM_170682.2:c.404C>G, NM_016318.4:c.332C>G, NM_016318.3:c.332C>G, NM_016318.2:c.332C>G, NM_174873.3:c.404C>G, NM_174873.2:c.404C>G, NM_174873.1:c.404C>G, NM_174872.3:c.128C>G, NM_174872.2:c.128C>G, NM_174872.1:c.128C>G, NM_001282165.2:c.404C>G, NM_001282165.1:c.404C>G, NM_001282164.2:c.332C>G, NM_001282164.1:c.332C>G, XM_005266156.6:c.404C>G, XM_005266156.5:c.404C>G, XM_005266156.4:c.404C>G, XM_005266156.3:c.404C>G, XM_005266156.2:c.404C>G, XM_005266156.1:c.404C>G, XM_005266155.6:c.404C>G, XM_005266155.5:c.404C>G, XM_005266155.4:c.404C>G, XM_005266155.3:c.404C>G, XM_005266155.2:c.404C>G, XM_005266155.1:c.404C>G, XM_005266154.5:c.404C>G, XM_005266154.4:c.404C>G, XM_005266154.3:c.404C>G, XM_005266154.2:c.404C>G, XM_005266154.1:c.404C>G, XM_011534786.4:c.332C>G, XM_011534786.3:c.332C>G, XM_011534786.2:c.332C>G, XM_011534786.1:c.332C>G, XM_017019035.3:c.404C>G, XM_017019035.2:c.404C>G, XM_017019035.1:c.404C>G, NP_733783.1:p.Thr135Ser, NP_733782.1:p.Thr135Ser, NP_057402.1:p.Thr111Ser, NP_777362.1:p.Thr135Ser, NP_777361.1:p.Thr43Ser, NP_001269094.1:p.Thr135Ser, NP_001269093.1:p.Thr111Ser, XP_005266213.1:p.Thr135Ser, XP_005266212.1:p.Thr135Ser, XP_005266211.1:p.Thr135Ser, XP_011533088.1:p.Thr111Ser, XP_016874524.1:p.Thr135Ser

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