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Items: 1 to 20 of 539

1.

rs1489400709 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    6:26385070 (GRCh38)
    6:26385298 (GRCh37)
    Canonical SPDI:
    NC_000006.12:26385069:C:T
    Gene:
    BTN2A2 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:

    2.

    rs1488325015 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      6:26385095 (GRCh38)
      6:26385323 (GRCh37)
      Canonical SPDI:
      NC_000006.12:26385094:C:A
      Gene:
      BTN2A2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000006.12:g.26385095C>A, NC_000006.11:g.26385323C>A, NM_006995.5:c.175C>A, NM_006995.4:c.175C>A, XM_006714955.4:c.175C>A, XM_006714955.3:c.175C>A, XM_006714955.2:c.175C>A, XM_006714955.1:c.175C>A, XM_005248797.4:c.175C>A, XM_005248797.3:c.175C>A, XM_005248797.2:c.175C>A, XM_005248797.1:c.175C>A, XM_011514228.3:c.175C>A, XM_011514228.2:c.175C>A, XM_011514228.1:c.175C>A, XM_017010166.3:c.175C>A, XM_017010166.2:c.175C>A, XM_017010166.1:c.175C>A, NM_001197237.2:c.175C>A, NM_001197237.1:c.175C>A, NM_001197240.2:c.175C>A, NM_001197240.1:c.175C>A, NM_001197238.2:c.175C>A, NM_001197238.1:c.175C>A, XM_047418075.1:c.175C>A, NP_008926.2:p.Pro59Thr, XP_006715018.1:p.Pro59Thr, XP_005248854.1:p.Pro59Thr, XP_011512530.1:p.Pro59Thr, XP_016865655.1:p.Pro59Thr, NP_001184166.1:p.Pro59Thr, NP_001184169.1:p.Pro59Thr, NP_001184167.1:p.Pro59Thr, XP_047274031.1:p.Pro59Thr

      3.

      rs1488118324 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        6:26390173 (GRCh38)
        6:26390401 (GRCh37)
        Canonical SPDI:
        NC_000006.12:26390172:G:A
        Gene:
        BTN2A2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        NC_000006.12:g.26390173G>A, NC_000006.11:g.26390401G>A, NM_006995.5:c.893G>A, NM_006995.4:c.893G>A, XM_005248798.5:c.545G>A, XM_005248798.4:c.545G>A, XM_005248798.3:c.545G>A, XM_005248798.2:c.545G>A, XM_005248798.1:c.545G>A, XM_006714955.4:c.893G>A, XM_006714955.3:c.893G>A, XM_006714955.2:c.893G>A, XM_006714955.1:c.893G>A, XM_005248797.4:c.893G>A, XM_005248797.3:c.893G>A, XM_005248797.2:c.893G>A, XM_005248797.1:c.893G>A, XM_011514231.4:c.263G>A, XM_011514231.3:c.263G>A, XM_011514231.2:c.263G>A, XM_011514231.1:c.263G>A, XM_011514228.3:c.893G>A, XM_011514228.2:c.893G>A, XM_011514228.1:c.893G>A, XM_017010166.3:c.707G>A, XM_017010166.2:c.707G>A, XM_017010166.1:c.707G>A, NM_181531.3:c.545G>A, NM_181531.2:c.545G>A, NM_001197237.2:c.893G>A, NM_001197237.1:c.893G>A, NM_001197240.2:c.611G>A, NM_001197240.1:c.611G>A, NM_001197239.2:c.263G>A, NM_001197239.1:c.263G>A, NM_001197238.2:c.893G>A, NM_001197238.1:c.893G>A, XM_047418075.1:c.707G>A, NP_008926.2:p.Gly298Glu, XP_005248855.1:p.Gly182Glu, XP_006715018.1:p.Gly298Glu, XP_005248854.1:p.Gly298Glu, XP_011512533.1:p.Gly88Glu, XP_011512530.1:p.Gly298Glu, XP_016865655.1:p.Gly236Glu, NP_853509.1:p.Gly182Glu, NP_001184166.1:p.Gly298Glu, NP_001184169.1:p.Gly204Glu, NP_001184168.1:p.Gly88Glu, NP_001184167.1:p.Gly298Glu, XP_047274031.1:p.Gly236Glu

        4.

        rs1486414566 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:26392775 (GRCh38)
          6:26393003 (GRCh37)
          Canonical SPDI:
          NC_000006.12:26392774:C:T
          Gene:
          BTN2A2 (Varview)
          Functional Consequence:
          coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000036/5 (GnomAD)
          HGVS:
          NC_000006.12:g.26392775C>T, NC_000006.11:g.26393003C>T, NM_006995.5:c.1380C>T, NM_006995.4:c.1380C>T, XM_005248798.5:c.1032C>T, XM_005248798.4:c.1032C>T, XM_005248798.3:c.1032C>T, XM_005248798.2:c.1032C>T, XM_005248798.1:c.1032C>T, XM_006714955.4:c.*547C>T, XM_006714955.3:c.*547C>T, XM_005248797.4:c.1380C>T, XM_005248797.3:c.1380C>T, XM_005248797.2:c.1380C>T, XM_005248797.1:c.1380C>T, XM_011514231.4:c.750C>T, XM_011514231.3:c.750C>T, XM_011514231.2:c.750C>T, XM_011514231.1:c.750C>T, XM_011514228.3:c.1380C>T, XM_011514228.2:c.1380C>T, XM_011514228.1:c.1380C>T, XM_017010166.3:c.1194C>T, XM_017010166.2:c.1194C>T, XM_017010166.1:c.1194C>T, NM_181531.3:c.1032C>T, NM_181531.2:c.1032C>T, NM_001197237.2:c.1380C>T, NM_001197237.1:c.1380C>T, NM_001197240.2:c.*480C>T, NM_001197240.1:c.*480C>T, NM_001197239.2:c.750C>T, NM_001197239.1:c.750C>T, XM_047418075.1:c.*2505C>T

          5.

          rs1484449947 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:26385296 (GRCh38)
            6:26385524 (GRCh37)
            Canonical SPDI:
            NC_000006.12:26385295:A:G
            Gene:
            BTN2A2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000006.12:g.26385296A>G, NC_000006.11:g.26385524A>G, NM_006995.5:c.376A>G, NM_006995.4:c.376A>G, XM_006714955.4:c.376A>G, XM_006714955.3:c.376A>G, XM_006714955.2:c.376A>G, XM_006714955.1:c.376A>G, XM_005248797.4:c.376A>G, XM_005248797.3:c.376A>G, XM_005248797.2:c.376A>G, XM_005248797.1:c.376A>G, XM_011514228.3:c.376A>G, XM_011514228.2:c.376A>G, XM_011514228.1:c.376A>G, XM_017010166.3:c.376A>G, XM_017010166.2:c.376A>G, XM_017010166.1:c.376A>G, NM_001197237.2:c.376A>G, NM_001197237.1:c.376A>G, NM_001197240.2:c.376A>G, NM_001197240.1:c.376A>G, NM_001197238.2:c.376A>G, NM_001197238.1:c.376A>G, XM_047418075.1:c.376A>G, NP_008926.2:p.Ile126Val, XP_006715018.1:p.Ile126Val, XP_005248854.1:p.Ile126Val, XP_011512530.1:p.Ile126Val, XP_016865655.1:p.Ile126Val, NP_001184166.1:p.Ile126Val, NP_001184169.1:p.Ile126Val, NP_001184167.1:p.Ile126Val, XP_047274031.1:p.Ile126Val

            6.

            rs1479057615 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              6:26385022 (GRCh38)
              6:26385250 (GRCh37)
              Canonical SPDI:
              NC_000006.12:26385021:T:C
              Gene:
              BTN2A2 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000094/1 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000004/1 (TOPMED)
              C=0.000029/4 (GnomAD)
              HGVS:

              7.

              rs1477362247 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:26385113 (GRCh38)
                6:26385341 (GRCh37)
                Canonical SPDI:
                NC_000006.12:26385112:G:A
                Gene:
                BTN2A2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000006.12:g.26385113G>A, NC_000006.11:g.26385341G>A, NM_006995.5:c.193G>A, NM_006995.4:c.193G>A, XM_006714955.4:c.193G>A, XM_006714955.3:c.193G>A, XM_006714955.2:c.193G>A, XM_006714955.1:c.193G>A, XM_005248797.4:c.193G>A, XM_005248797.3:c.193G>A, XM_005248797.2:c.193G>A, XM_005248797.1:c.193G>A, XM_011514228.3:c.193G>A, XM_011514228.2:c.193G>A, XM_011514228.1:c.193G>A, XM_017010166.3:c.193G>A, XM_017010166.2:c.193G>A, XM_017010166.1:c.193G>A, NM_001197237.2:c.193G>A, NM_001197237.1:c.193G>A, NM_001197240.2:c.193G>A, NM_001197240.1:c.193G>A, NM_001197238.2:c.193G>A, NM_001197238.1:c.193G>A, XM_047418075.1:c.193G>A, NP_008926.2:p.Asp65Asn, XP_006715018.1:p.Asp65Asn, XP_005248854.1:p.Asp65Asn, XP_011512530.1:p.Asp65Asn, XP_016865655.1:p.Asp65Asn, NP_001184166.1:p.Asp65Asn, NP_001184169.1:p.Asp65Asn, NP_001184167.1:p.Asp65Asn, XP_047274031.1:p.Asp65Asn

                8.

                rs1476675537 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  6:26388290 (GRCh38)
                  6:26388518 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:26388289:T:C
                  Gene:
                  BTN2A2 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000047/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000014/2 (GnomAD)
                  HGVS:

                  9.

                  rs1475808186 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:26388218 (GRCh38)
                    6:26388446 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:26388217:G:A
                    Gene:
                    BTN2A2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,intron_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=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1475722523 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      6:26385205 (GRCh38)
                      6:26385433 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:26385204:G:A,NC_000006.12:26385204:G:T
                      Gene:
                      BTN2A2 (Varview)
                      Functional Consequence:
                      synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.0002/1 (ALFA)
                      T=0.0002/1 (Estonian)
                      A=0.0005/1 (Korea1K)
                      HGVS:
                      NC_000006.12:g.26385205G>A, NC_000006.12:g.26385205G>T, NC_000006.11:g.26385433G>A, NC_000006.11:g.26385433G>T, NM_006995.5:c.285G>A, NM_006995.5:c.285G>T, NM_006995.4:c.285G>A, NM_006995.4:c.285G>T, XM_006714955.4:c.285G>A, XM_006714955.4:c.285G>T, XM_006714955.3:c.285G>A, XM_006714955.3:c.285G>T, XM_006714955.2:c.285G>A, XM_006714955.2:c.285G>T, XM_006714955.1:c.285G>A, XM_006714955.1:c.285G>T, XM_005248797.4:c.285G>A, XM_005248797.4:c.285G>T, XM_005248797.3:c.285G>A, XM_005248797.3:c.285G>T, XM_005248797.2:c.285G>A, XM_005248797.2:c.285G>T, XM_005248797.1:c.285G>A, XM_005248797.1:c.285G>T, XM_011514228.3:c.285G>A, XM_011514228.3:c.285G>T, XM_011514228.2:c.285G>A, XM_011514228.2:c.285G>T, XM_011514228.1:c.285G>A, XM_011514228.1:c.285G>T, XM_017010166.3:c.285G>A, XM_017010166.3:c.285G>T, XM_017010166.2:c.285G>A, XM_017010166.2:c.285G>T, XM_017010166.1:c.285G>A, XM_017010166.1:c.285G>T, NM_001197237.2:c.285G>A, NM_001197237.2:c.285G>T, NM_001197237.1:c.285G>A, NM_001197237.1:c.285G>T, NM_001197240.2:c.285G>A, NM_001197240.2:c.285G>T, NM_001197240.1:c.285G>A, NM_001197240.1:c.285G>T, NM_001197238.2:c.285G>A, NM_001197238.2:c.285G>T, NM_001197238.1:c.285G>A, NM_001197238.1:c.285G>T, XM_047418075.1:c.285G>A, XM_047418075.1:c.285G>T, NP_008926.2:p.Glu95Asp, XP_006715018.1:p.Glu95Asp, XP_005248854.1:p.Glu95Asp, XP_011512530.1:p.Glu95Asp, XP_016865655.1:p.Glu95Asp, NP_001184166.1:p.Glu95Asp, NP_001184169.1:p.Glu95Asp, NP_001184167.1:p.Glu95Asp, XP_047274031.1:p.Glu95Asp

                      11.

                      rs1475201028 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        6:26392844 (GRCh38)
                        6:26393072 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:26392843:C:T
                        Gene:
                        BTN2A2 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000006.12:g.26392844C>T, NC_000006.11:g.26393072C>T, NM_006995.5:c.1449C>T, NM_006995.4:c.1449C>T, XM_005248798.5:c.1101C>T, XM_005248798.4:c.1101C>T, XM_005248798.3:c.1101C>T, XM_005248798.2:c.1101C>T, XM_005248798.1:c.1101C>T, XM_006714955.4:c.*616C>T, XM_006714955.3:c.*616C>T, XM_005248797.4:c.1449C>T, XM_005248797.3:c.1449C>T, XM_005248797.2:c.1449C>T, XM_005248797.1:c.1449C>T, XM_011514231.4:c.819C>T, XM_011514231.3:c.819C>T, XM_011514231.2:c.819C>T, XM_011514231.1:c.819C>T, XM_011514228.3:c.1449C>T, XM_011514228.2:c.1449C>T, XM_011514228.1:c.1449C>T, XM_017010166.3:c.1263C>T, XM_017010166.2:c.1263C>T, XM_017010166.1:c.1263C>T, NM_181531.3:c.1101C>T, NM_181531.2:c.1101C>T, NM_001197237.2:c.1449C>T, NM_001197237.1:c.1449C>T, NM_001197240.2:c.*549C>T, NM_001197240.1:c.*549C>T, NM_001197239.2:c.819C>T, NM_001197239.1:c.819C>T, XM_047418075.1:c.*2574C>T

                        12.

                        rs1474108142 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          6:26392856 (GRCh38)
                          6:26393084 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:26392855:G:A,NC_000006.12:26392855:G:T
                          Gene:
                          BTN2A2 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000006.12:g.26392856G>A, NC_000006.12:g.26392856G>T, NC_000006.11:g.26393084G>A, NC_000006.11:g.26393084G>T, NM_006995.5:c.1461G>A, NM_006995.5:c.1461G>T, NM_006995.4:c.1461G>A, NM_006995.4:c.1461G>T, XM_005248798.5:c.1113G>A, XM_005248798.5:c.1113G>T, XM_005248798.4:c.1113G>A, XM_005248798.4:c.1113G>T, XM_005248798.3:c.1113G>A, XM_005248798.3:c.1113G>T, XM_005248798.2:c.1113G>A, XM_005248798.2:c.1113G>T, XM_005248798.1:c.1113G>A, XM_005248798.1:c.1113G>T, XM_006714955.4:c.*628G>A, XM_006714955.4:c.*628G>T, XM_006714955.3:c.*628G>A, XM_006714955.3:c.*628G>T, XM_005248797.4:c.1461G>A, XM_005248797.4:c.1461G>T, XM_005248797.3:c.1461G>A, XM_005248797.3:c.1461G>T, XM_005248797.2:c.1461G>A, XM_005248797.2:c.1461G>T, XM_005248797.1:c.1461G>A, XM_005248797.1:c.1461G>T, XM_011514231.4:c.831G>A, XM_011514231.4:c.831G>T, XM_011514231.3:c.831G>A, XM_011514231.3:c.831G>T, XM_011514231.2:c.831G>A, XM_011514231.2:c.831G>T, XM_011514231.1:c.831G>A, XM_011514231.1:c.831G>T, XM_011514228.3:c.1461G>A, XM_011514228.3:c.1461G>T, XM_011514228.2:c.1461G>A, XM_011514228.2:c.1461G>T, XM_011514228.1:c.1461G>A, XM_011514228.1:c.1461G>T, XM_017010166.3:c.1275G>A, XM_017010166.3:c.1275G>T, XM_017010166.2:c.1275G>A, XM_017010166.2:c.1275G>T, XM_017010166.1:c.1275G>A, XM_017010166.1:c.1275G>T, NM_181531.3:c.1113G>A, NM_181531.3:c.1113G>T, NM_181531.2:c.1113G>A, NM_181531.2:c.1113G>T, NM_001197237.2:c.1461G>A, NM_001197237.2:c.1461G>T, NM_001197237.1:c.1461G>A, NM_001197237.1:c.1461G>T, NM_001197240.2:c.*561G>A, NM_001197240.2:c.*561G>T, NM_001197240.1:c.*561G>A, NM_001197240.1:c.*561G>T, NM_001197239.2:c.831G>A, NM_001197239.2:c.831G>T, NM_001197239.1:c.831G>A, NM_001197239.1:c.831G>T, XM_047418075.1:c.*2586G>A, XM_047418075.1:c.*2586G>T

                          13.

                          rs1471878494 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            6:26392789 (GRCh38)
                            6:26393017 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:26392788:G:T
                            Gene:
                            BTN2A2 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.26392789G>T, NC_000006.11:g.26393017G>T, NM_006995.5:c.1394G>T, NM_006995.4:c.1394G>T, XM_005248798.5:c.1046G>T, XM_005248798.4:c.1046G>T, XM_005248798.3:c.1046G>T, XM_005248798.2:c.1046G>T, XM_005248798.1:c.1046G>T, XM_006714955.4:c.*561G>T, XM_006714955.3:c.*561G>T, XM_005248797.4:c.1394G>T, XM_005248797.3:c.1394G>T, XM_005248797.2:c.1394G>T, XM_005248797.1:c.1394G>T, XM_011514231.4:c.764G>T, XM_011514231.3:c.764G>T, XM_011514231.2:c.764G>T, XM_011514231.1:c.764G>T, XM_011514228.3:c.1394G>T, XM_011514228.2:c.1394G>T, XM_011514228.1:c.1394G>T, XM_017010166.3:c.1208G>T, XM_017010166.2:c.1208G>T, XM_017010166.1:c.1208G>T, NM_181531.3:c.1046G>T, NM_181531.2:c.1046G>T, NM_001197237.2:c.1394G>T, NM_001197237.1:c.1394G>T, NM_001197240.2:c.*494G>T, NM_001197240.1:c.*494G>T, NM_001197239.2:c.764G>T, NM_001197239.1:c.764G>T, XM_047418075.1:c.*2519G>T, NP_008926.2:p.Arg465Ile, XP_005248855.1:p.Arg349Ile, XP_005248854.1:p.Arg465Ile, XP_011512533.1:p.Arg255Ile, XP_011512530.1:p.Arg465Ile, XP_016865655.1:p.Arg403Ile, NP_853509.1:p.Arg349Ile, NP_001184166.1:p.Arg465Ile, NP_001184168.1:p.Arg255Ile

                            14.

                            rs1469451726 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              6:26392561 (GRCh38)
                              6:26392789 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:26392560:A:G
                              Gene:
                              BTN2A2 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
                              HGVS:
                              NC_000006.12:g.26392561A>G, NC_000006.11:g.26392789A>G, NM_006995.5:c.1166A>G, NM_006995.4:c.1166A>G, XM_005248798.5:c.818A>G, XM_005248798.4:c.818A>G, XM_005248798.3:c.818A>G, XM_005248798.2:c.818A>G, XM_005248798.1:c.818A>G, XM_006714955.4:c.*333A>G, XM_006714955.3:c.*333A>G, XM_005248797.4:c.1166A>G, XM_005248797.3:c.1166A>G, XM_005248797.2:c.1166A>G, XM_005248797.1:c.1166A>G, XM_011514231.4:c.536A>G, XM_011514231.3:c.536A>G, XM_011514231.2:c.536A>G, XM_011514231.1:c.536A>G, XM_011514228.3:c.1166A>G, XM_011514228.2:c.1166A>G, XM_011514228.1:c.1166A>G, XM_017010166.3:c.980A>G, XM_017010166.2:c.980A>G, XM_017010166.1:c.980A>G, NM_181531.3:c.818A>G, NM_181531.2:c.818A>G, NM_001197237.2:c.1166A>G, NM_001197237.1:c.1166A>G, NM_001197240.2:c.*266A>G, NM_001197240.1:c.*266A>G, NM_001197239.2:c.536A>G, NM_001197239.1:c.536A>G, XM_047418075.1:c.*2291A>G, NP_008926.2:p.Glu389Gly, XP_005248855.1:p.Glu273Gly, XP_005248854.1:p.Glu389Gly, XP_011512533.1:p.Glu179Gly, XP_011512530.1:p.Glu389Gly, XP_016865655.1:p.Glu327Gly, NP_853509.1:p.Glu273Gly, NP_001184166.1:p.Glu389Gly, NP_001184168.1:p.Glu179Gly

                              15.

                              rs1468868366 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                6:26388131 (GRCh38)
                                6:26388359 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:26388130:T:C
                                Gene:
                                BTN2A2 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1468781909 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:26388134 (GRCh38)
                                  6:26388362 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:26388133:G:A
                                  Gene:
                                  BTN2A2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000047/1 (ALFA)
                                  A=0.000008/2 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1467533745 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    6:26390054 (GRCh38)
                                    6:26390282 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:26390053:C:T
                                    Gene:
                                    BTN2A2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000068/3 (ALFA)
                                    T=0.000012/3 (GnomAD_exomes)
                                    T=0.000026/7 (TOPMED)
                                    T=0.000064/9 (GnomAD)
                                    HGVS:
                                    NC_000006.12:g.26390054C>T, NC_000006.11:g.26390282C>T, NM_006995.5:c.774C>T, NM_006995.4:c.774C>T, XM_005248798.5:c.426C>T, XM_005248798.4:c.426C>T, XM_005248798.3:c.426C>T, XM_005248798.2:c.426C>T, XM_005248798.1:c.426C>T, XM_006714955.4:c.774C>T, XM_006714955.3:c.774C>T, XM_006714955.2:c.774C>T, XM_006714955.1:c.774C>T, XM_005248797.4:c.774C>T, XM_005248797.3:c.774C>T, XM_005248797.2:c.774C>T, XM_005248797.1:c.774C>T, XM_011514231.4:c.144C>T, XM_011514231.3:c.144C>T, XM_011514231.2:c.144C>T, XM_011514231.1:c.144C>T, XM_011514228.3:c.774C>T, XM_011514228.2:c.774C>T, XM_011514228.1:c.774C>T, XM_017010166.3:c.588C>T, XM_017010166.2:c.588C>T, XM_017010166.1:c.588C>T, NM_181531.3:c.426C>T, NM_181531.2:c.426C>T, NM_001197237.2:c.774C>T, NM_001197237.1:c.774C>T, NM_001197240.2:c.492C>T, NM_001197240.1:c.492C>T, NM_001197239.2:c.144C>T, NM_001197239.1:c.144C>T, NM_001197238.2:c.774C>T, NM_001197238.1:c.774C>T, XM_047418075.1:c.588C>T

                                    18.

                                    rs1466638595 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      6:26392415 (GRCh38)
                                      6:26392643 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:26392414:C:G
                                      Gene:
                                      BTN2A2 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.26392415C>G, NC_000006.11:g.26392643C>G, NM_006995.5:c.1020C>G, NM_006995.4:c.1020C>G, XM_005248798.5:c.672C>G, XM_005248798.4:c.672C>G, XM_005248798.3:c.672C>G, XM_005248798.2:c.672C>G, XM_005248798.1:c.672C>G, XM_006714955.4:c.*187C>G, XM_006714955.3:c.*187C>G, XM_006714955.2:c.*187C>G, XM_005248797.4:c.1020C>G, XM_005248797.3:c.1020C>G, XM_005248797.2:c.1020C>G, XM_005248797.1:c.1020C>G, XM_011514231.4:c.390C>G, XM_011514231.3:c.390C>G, XM_011514231.2:c.390C>G, XM_011514231.1:c.390C>G, XM_011514228.3:c.1020C>G, XM_011514228.2:c.1020C>G, XM_011514228.1:c.1020C>G, XM_017010166.3:c.834C>G, XM_017010166.2:c.834C>G, XM_017010166.1:c.834C>G, NM_181531.3:c.672C>G, NM_181531.2:c.672C>G, NM_001197237.2:c.1020C>G, NM_001197237.1:c.1020C>G, NM_001197240.2:c.*120C>G, NM_001197240.1:c.*120C>G, NM_001197239.2:c.390C>G, NM_001197239.1:c.390C>G, XM_047418075.1:c.*2145C>G

                                      19.

                                      rs1466088058 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:26392734 (GRCh38)
                                        6:26392962 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:26392733:G:A
                                        Gene:
                                        BTN2A2 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000006.12:g.26392734G>A, NC_000006.11:g.26392962G>A, NM_006995.5:c.1339G>A, NM_006995.4:c.1339G>A, XM_005248798.5:c.991G>A, XM_005248798.4:c.991G>A, XM_005248798.3:c.991G>A, XM_005248798.2:c.991G>A, XM_005248798.1:c.991G>A, XM_006714955.4:c.*506G>A, XM_006714955.3:c.*506G>A, XM_005248797.4:c.1339G>A, XM_005248797.3:c.1339G>A, XM_005248797.2:c.1339G>A, XM_005248797.1:c.1339G>A, XM_011514231.4:c.709G>A, XM_011514231.3:c.709G>A, XM_011514231.2:c.709G>A, XM_011514231.1:c.709G>A, XM_011514228.3:c.1339G>A, XM_011514228.2:c.1339G>A, XM_011514228.1:c.1339G>A, XM_017010166.3:c.1153G>A, XM_017010166.2:c.1153G>A, XM_017010166.1:c.1153G>A, NM_181531.3:c.991G>A, NM_181531.2:c.991G>A, NM_001197237.2:c.1339G>A, NM_001197237.1:c.1339G>A, NM_001197240.2:c.*439G>A, NM_001197240.1:c.*439G>A, NM_001197239.2:c.709G>A, NM_001197239.1:c.709G>A, XM_047418075.1:c.*2464G>A, NP_008926.2:p.Gly447Ser, XP_005248855.1:p.Gly331Ser, XP_005248854.1:p.Gly447Ser, XP_011512533.1:p.Gly237Ser, XP_011512530.1:p.Gly447Ser, XP_016865655.1:p.Gly385Ser, NP_853509.1:p.Gly331Ser, NP_001184166.1:p.Gly447Ser, NP_001184168.1:p.Gly237Ser

                                        20.

                                        rs1463164982 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:26392636 (GRCh38)
                                          6:26392864 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:26392635:A:G
                                          Gene:
                                          BTN2A2 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000006.12:g.26392636A>G, NC_000006.11:g.26392864A>G, NM_006995.5:c.1241A>G, NM_006995.4:c.1241A>G, XM_005248798.5:c.893A>G, XM_005248798.4:c.893A>G, XM_005248798.3:c.893A>G, XM_005248798.2:c.893A>G, XM_005248798.1:c.893A>G, XM_006714955.4:c.*408A>G, XM_006714955.3:c.*408A>G, XM_005248797.4:c.1241A>G, XM_005248797.3:c.1241A>G, XM_005248797.2:c.1241A>G, XM_005248797.1:c.1241A>G, XM_011514231.4:c.611A>G, XM_011514231.3:c.611A>G, XM_011514231.2:c.611A>G, XM_011514231.1:c.611A>G, XM_011514228.3:c.1241A>G, XM_011514228.2:c.1241A>G, XM_011514228.1:c.1241A>G, XM_017010166.3:c.1055A>G, XM_017010166.2:c.1055A>G, XM_017010166.1:c.1055A>G, NM_181531.3:c.893A>G, NM_181531.2:c.893A>G, NM_001197237.2:c.1241A>G, NM_001197237.1:c.1241A>G, NM_001197240.2:c.*341A>G, NM_001197240.1:c.*341A>G, NM_001197239.2:c.611A>G, NM_001197239.1:c.611A>G, XM_047418075.1:c.*2366A>G, NP_008926.2:p.Gln414Arg, XP_005248855.1:p.Gln298Arg, XP_005248854.1:p.Gln414Arg, XP_011512533.1:p.Gln204Arg, XP_011512530.1:p.Gln414Arg, XP_016865655.1:p.Gln352Arg, NP_853509.1:p.Gln298Arg, NP_001184166.1:p.Gln414Arg, NP_001184168.1:p.Gln204Arg

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