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 536

1.

rs1489882498 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    19:54853799 (GRCh38)
    19:55365254 (GRCh37)
    Canonical SPDI:
    NC_000019.10:54853798:A:G
    Gene:
    KIR3DL2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000014/2 (GnomAD)
    G=0.000023/6 (TOPMED)
    HGVS:
    NC_000019.10:g.54853799A>G, NW_004166865.1:g.828167A>G, NG_012802.2:g.8480A>G, NM_006737.4:c.408A>G, NM_006737.3:c.408A>G, NM_001242867.2:c.408A>G, NM_001242867.1:c.408A>G, NW_003571058.2:g.835736A>G, NW_003571058.1:g.835735A>G, NW_003571059.2:g.772386A>G, NW_003571059.1:g.772385A>G, NT_113949.1:g.150991A>G, NT_187642.1:g.15137T>C, NW_003571055.2:g.499070A>G, NW_003571055.1:g.499069A>G, NW_003571056.2:g.833677A>G, NW_003571056.1:g.833676A>G, NT_187693.1:g.836368A>G, NC_000019.9:g.55365254A>G, NT_187676.1:g.129743A>G, NT_187677.1:g.131165A>G, NW_016107306.1:g.154395A>G, NT_187685.1:g.15618T>C, NT_187674.1:g.139817A>G, NW_016107312.1:g.58194T>C, NT_187675.1:g.224035A>G, NW_016107304.1:g.182872A>G, NT_187686.1:g.15596T>C, NT_187641.1:g.27391T>C, NT_187670.1:g.15503T>C, NT_187636.1:g.21716T>C, NT_187671.1:g.132746A>G, NW_016107313.1:g.155406A>G, NT_187683.1:g.128013A>G, NW_003571060.1:g.758170A>G, NT_187639.1:g.15572T>C, NT_187638.1:g.15448T>C, NT_187684.1:g.15262T>C, NT_187673.1:g.15264T>C, NT_187687.1:g.15258T>C, NT_187645.1:g.15258T>C, NT_187644.1:g.15250T>C, NT_187669.1:g.15263T>C, NT_187643.1:g.15263T>C, NT_187637.1:g.14995T>C, NW_016107301.1:g.155442A>G, NT_113949.2:g.8179T>C, NW_016107302.1:g.155451A>G, NW_016107307.1:g.155413A>G, NW_016107300.1:g.155242A>G, NW_016107309.1:g.155451A>G, NT_187668.1:g.5157T>C, NT_187640.1:g.5075T>C, NW_016107305.1:g.155430A>G, NW_016107303.1:g.288222A>G, NW_016107314.1:g.141789A>G, NW_016107310.1:g.213018A>G, XM_047438795.1:c.408A>G

    2.

    rs1488623098 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      19:54855798 (GRCh38)
      19:55367253 (GRCh37)
      Canonical SPDI:
      NC_000019.10:54855797:G:A
      Gene:
      KIR3DL2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000019.10:g.54855798G>A, NW_004166865.1:g.830166G>A, NG_012802.2:g.10479G>A, NM_006737.4:c.835G>A, NM_006737.3:c.835G>A, NM_001242867.2:c.835G>A, NM_001242867.1:c.835G>A, NW_003571058.2:g.837738G>A, NW_003571058.1:g.837737G>A, NW_003571059.2:g.774392G>A, NW_003571059.1:g.774391G>A, NT_113949.1:g.152997G>A, NT_187642.1:g.13131C>T, NW_003571055.2:g.501076G>A, NW_003571055.1:g.501075G>A, NW_003571056.2:g.835676G>A, NW_003571056.1:g.835675G>A, NT_187693.1:g.838367G>A, NC_000019.9:g.55367253G>A, NT_187676.1:g.131749G>A, NT_187677.1:g.133164G>A, NW_016107306.1:g.156401G>A, NT_187685.1:g.13616C>T, NT_187674.1:g.141823G>A, NW_016107312.1:g.56188C>T, NT_187675.1:g.226041G>A, NW_016107304.1:g.184878G>A, NT_187686.1:g.13590C>T, NT_187641.1:g.25385C>T, NT_187670.1:g.13497C>T, NT_187636.1:g.19710C>T, NT_187671.1:g.134745G>A, NW_016107313.1:g.157412G>A, NT_187683.1:g.130019G>A, NW_003571060.1:g.760176G>A, NT_187639.1:g.13566C>T, NT_187638.1:g.13442C>T, NT_187684.1:g.13256C>T, NT_187673.1:g.13258C>T, NT_187687.1:g.13256C>T, NT_187645.1:g.13256C>T, NT_187644.1:g.13244C>T, NT_187669.1:g.13257C>T, NT_187643.1:g.13257C>T, NT_187637.1:g.12993C>T, NW_016107301.1:g.157441G>A, NT_113949.2:g.6173C>T, NW_016107302.1:g.157453G>A, NW_016107307.1:g.157415G>A, NW_016107300.1:g.157248G>A, NW_016107309.1:g.157457G>A, NT_187668.1:g.3151C>T, NT_187640.1:g.3073C>T, NW_016107305.1:g.157436G>A, NW_016107303.1:g.290228G>A, NW_016107314.1:g.143788G>A, NW_016107310.1:g.215024G>A, XM_047438795.1:c.835G>A, NP_006728.2:p.Asp279Asn, NP_001229796.1:p.Asp279Asn, XP_047294751.1:p.Asp279Asn

      3.

      rs1488442719 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        19:54852177 (GRCh38)
        19:55363632 (GRCh37)
        Canonical SPDI:
        NC_000019.10:54852176:C:G
        Gene:
        KIR3DL2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000015/3 (GnomAD_exomes)
        HGVS:
        NC_000019.10:g.54852177C>G, NW_004166865.1:g.826545C>G, NG_012802.2:g.6858C>G, NM_006737.4:c.250C>G, NM_006737.3:c.250C>G, NM_001242867.2:c.250C>G, NM_001242867.1:c.250C>G, NW_003571058.2:g.834114C>G, NW_003571058.1:g.834113C>G, NW_003571059.2:g.770764C>G, NW_003571059.1:g.770763C>G, NT_113949.1:g.149369C>G, NT_187642.1:g.16759G>C, NW_003571055.2:g.497448C>G, NW_003571055.1:g.497447C>G, NW_003571056.2:g.832055C>G, NW_003571056.1:g.832054C>G, NT_187693.1:g.834746C>G, NC_000019.9:g.55363632C>G, NT_187676.1:g.128121C>G, NT_187677.1:g.129543C>G, NW_016107306.1:g.152773C>G, NT_187685.1:g.17240G>C, NT_187674.1:g.138195C>G, NW_016107312.1:g.59816G>C, NT_187675.1:g.222413C>G, NW_016107304.1:g.181250C>G, NT_187686.1:g.17218G>C, NT_187641.1:g.29013G>C, NT_187670.1:g.17125G>C, NT_187636.1:g.23338G>C, NT_187671.1:g.131124C>G, NW_016107313.1:g.153784C>G, NT_187683.1:g.126391C>G, NW_003571060.1:g.756548C>G, NT_187639.1:g.17194G>C, NT_187638.1:g.17070G>C, NT_187684.1:g.16884G>C, NT_187673.1:g.16886G>C, NT_187687.1:g.16880G>C, NT_187645.1:g.16880G>C, NT_187644.1:g.16872G>C, NT_187669.1:g.16885G>C, NT_187643.1:g.16885G>C, NT_187637.1:g.16617G>C, NW_016107301.1:g.153820C>G, NW_003571057.2:g.860041C>G, NW_003571057.1:g.860040C>G, NT_113949.2:g.9801G>C, NW_016107302.1:g.153829C>G, NW_016107307.1:g.153791C>G, NW_016107300.1:g.153620C>G, NW_016107309.1:g.153829C>G, NT_187668.1:g.6779G>C, NT_187640.1:g.6697G>C, NW_016107305.1:g.153808C>G, NW_016107303.1:g.286600C>G, NW_016107314.1:g.140167C>G, NW_016107310.1:g.211396C>G, NW_016107308.1:g.89516C>G, XM_047438795.1:c.250C>G, NP_006728.2:p.Pro84Ala, NP_001229796.1:p.Pro84Ala, XP_047294751.1:p.Pro84Ala

        4.

        rs1487760590 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:54865837 (GRCh38)
          19:55377292 (GRCh37)
          Canonical SPDI:
          NC_000019.10:54865836:A:G
          Gene:
          KIR3DL2 (Varview)
          Functional Consequence:
          missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          NC_000019.10:g.54865837A>G, NW_004166865.1:g.840205A>G, NG_012802.2:g.20518A>G, NM_006737.4:c.1033A>G, NM_006737.3:c.1033A>G, NM_001242867.2:c.982A>G, NM_001242867.1:c.982A>G, NW_003571058.2:g.847777A>G, NW_003571058.1:g.847776A>G, NW_003571059.2:g.784427A>G, NW_003571059.1:g.784426A>G, NW_003571055.2:g.511111A>G, NW_003571055.1:g.511110A>G, NT_187693.1:g.848406A>G, NC_000019.9:g.55377292A>G, NT_187676.1:g.141787A>G, NT_187677.1:g.143203A>G, NW_016107306.1:g.166439A>G, NT_187685.1:g.3577T>C, NT_187674.1:g.151861A>G, NW_016107312.1:g.46149T>C, NT_187675.1:g.236076A>G, NW_016107304.1:g.194913A>G, NT_187686.1:g.3555T>C, NT_187641.1:g.15350T>C, NT_187670.1:g.3462T>C, NT_187636.1:g.9675T>C, NT_187671.1:g.144784A>G, NW_016107313.1:g.167449A>G, NT_187683.1:g.140056A>G, NW_003571060.1:g.770212A>G, NT_187639.1:g.3529T>C, NT_187638.1:g.3403T>C, NT_187684.1:g.3220T>C, NT_187673.1:g.3221T>C, NT_187687.1:g.3220T>C, NT_187645.1:g.3220T>C, NT_187644.1:g.3209T>C, NT_187669.1:g.3220T>C, NT_187643.1:g.3220T>C, NT_187642.1:g.3093T>C, NT_187637.1:g.2954T>C, NW_016107301.1:g.167477A>G, NW_016107302.1:g.167492A>G, NW_016107311.1:g.86961A>G, XM_047443108.1:c.70A>G, NP_006728.2:p.Thr345Ala, NP_001229796.1:p.Thr328Ala

          5.

          rs1485527817 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:54866393 (GRCh38)
            19:55377848 (GRCh37)
            Canonical SPDI:
            NC_000019.10:54866392:C:T
            Gene:
            KIR3DL2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.54866393C>T, NW_004166865.1:g.840761C>T, NG_012802.2:g.21074C>T, NM_006737.4:c.1129C>T, NM_006737.3:c.1129C>T, NM_001242867.2:c.1078C>T, NM_001242867.1:c.1078C>T, NW_003571058.2:g.848333C>T, NW_003571058.1:g.848332C>T, NW_003571059.2:g.784983C>T, NW_003571059.1:g.784982C>T, NW_003571055.2:g.511667C>T, NW_003571055.1:g.511666C>T, NT_187693.1:g.848962C>T, NC_000019.9:g.55377848C>T, NT_187676.1:g.142343C>T, NT_187677.1:g.143759C>T, NW_016107306.1:g.166995C>T, NT_187685.1:g.3021G>A, NT_187674.1:g.152417C>T, NW_016107312.1:g.45593G>A, NT_187675.1:g.236632C>T, NW_016107304.1:g.195469C>T, NT_187686.1:g.2999G>A, NT_187641.1:g.14794G>A, NT_187670.1:g.2906G>A, NT_187636.1:g.9119G>A, NT_187671.1:g.145340C>T, NW_016107313.1:g.168005C>T, NT_187683.1:g.140612C>T, NW_003571060.1:g.770768C>T, NT_187639.1:g.2973G>A, NT_187638.1:g.2847G>A, NT_187684.1:g.2664G>A, NT_187673.1:g.2665G>A, NT_187687.1:g.2664G>A, NT_187645.1:g.2664G>A, NT_187644.1:g.2653G>A, NT_187669.1:g.2664G>A, NT_187643.1:g.2664G>A, NT_187642.1:g.2537G>A, NT_187637.1:g.2398G>A, NW_016107301.1:g.168033C>T, NW_016107302.1:g.168048C>T, NW_016107311.1:g.87517C>T, XM_047438795.1:c.973C>T, XM_047443108.1:c.166C>T, NP_006728.2:p.Pro377Ser, NP_001229796.1:p.Pro360Ser, XP_047294751.1:p.Pro325Ser

            6.

            rs1482939823 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              19:54851253 (GRCh38)
              19:55362708 (GRCh37)
              Canonical SPDI:
              NC_000019.10:54851252:T:A,NC_000019.10:54851252:T:C
              Gene:
              KIR3DL2 (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)
              A=0.000014/2 (GnomAD)
              C=0.000015/2 (GnomAD_exomes)
              HGVS:
              NC_000019.10:g.54851253T>A, NC_000019.10:g.54851253T>C, NW_004166865.1:g.825621T>A, NW_004166865.1:g.825621T>C, NG_012802.2:g.5934T>A, NG_012802.2:g.5934T>C, NM_006737.4:c.68T>A, NM_006737.4:c.68T>C, NM_006737.3:c.68T>A, NM_006737.3:c.68T>C, NM_001242867.2:c.68T>A, NM_001242867.2:c.68T>C, NM_001242867.1:c.68T>A, NM_001242867.1:c.68T>C, NW_003571058.2:g.833190T>A, NW_003571058.2:g.833190T>C, NW_003571058.1:g.833189T>A, NW_003571058.1:g.833189T>C, NW_003571059.2:g.769840T>A, NW_003571059.2:g.769840T>C, NW_003571059.1:g.769839T>A, NW_003571059.1:g.769839T>C, NT_113949.1:g.148445T>A, NT_113949.1:g.148445T>C, NT_187642.1:g.17683A>T, NT_187642.1:g.17683A>G, NW_003571055.2:g.496524T>A, NW_003571055.2:g.496524T>C, NW_003571055.1:g.496523T>A, NW_003571055.1:g.496523T>C, NW_003571056.2:g.831131T>A, NW_003571056.2:g.831131T>C, NW_003571056.1:g.831130T>A, NW_003571056.1:g.831130T>C, NT_187693.1:g.833822T>A, NT_187693.1:g.833822T>C, NC_000019.9:g.55362708T>A, NC_000019.9:g.55362708T>C, NT_187676.1:g.127197T>A, NT_187676.1:g.127197T>C, NT_187677.1:g.128619T>A, NT_187677.1:g.128619T>C, NW_016107306.1:g.151849T>A, NW_016107306.1:g.151849T>C, NT_187685.1:g.18164A>T, NT_187685.1:g.18164A>G, NT_187674.1:g.137271T>A, NT_187674.1:g.137271T>C, NW_016107312.1:g.60740A>T, NW_016107312.1:g.60740A>G, NT_187675.1:g.221489T>A, NT_187675.1:g.221489T>C, NW_016107304.1:g.180326T>A, NW_016107304.1:g.180326T>C, NT_187686.1:g.18142A>T, NT_187686.1:g.18142A>G, NT_187641.1:g.29937A>T, NT_187641.1:g.29937A>G, NT_187670.1:g.18049A>T, NT_187670.1:g.18049A>G, NT_187636.1:g.24262A>T, NT_187636.1:g.24262A>G, NT_187671.1:g.130200T>A, NT_187671.1:g.130200T>C, NW_016107313.1:g.152860T>A, NW_016107313.1:g.152860T>C, NT_187683.1:g.125467T>A, NT_187683.1:g.125467T>C, NW_003571060.1:g.755624T>A, NW_003571060.1:g.755624T>C, NT_187639.1:g.18118A>T, NT_187639.1:g.18118A>G, NT_187638.1:g.17994A>T, NT_187638.1:g.17994A>G, NT_187684.1:g.17808A>T, NT_187684.1:g.17808A>G, NT_187673.1:g.17810A>T, NT_187673.1:g.17810A>G, NT_187687.1:g.17804A>T, NT_187687.1:g.17804A>G, NT_187645.1:g.17804A>T, NT_187645.1:g.17804A>G, NT_187644.1:g.17796A>T, NT_187644.1:g.17796A>G, NT_187669.1:g.17809A>T, NT_187669.1:g.17809A>G, NT_187643.1:g.17809A>T, NT_187643.1:g.17809A>G, NT_187637.1:g.17541A>T, NT_187637.1:g.17541A>G, NW_016107301.1:g.152896T>A, NW_016107301.1:g.152896T>C, NW_003571057.2:g.859117T>A, NW_003571057.2:g.859117T>C, NW_003571057.1:g.859116T>A, NW_003571057.1:g.859116T>C, NT_113949.2:g.10725A>T, NT_113949.2:g.10725A>G, NW_016107302.1:g.152905T>A, NW_016107302.1:g.152905T>C, NW_016107307.1:g.152867T>A, NW_016107307.1:g.152867T>C, NW_016107300.1:g.152696T>A, NW_016107300.1:g.152696T>C, NW_016107309.1:g.152905T>A, NW_016107309.1:g.152905T>C, NT_187668.1:g.7703A>T, NT_187668.1:g.7703A>G, NT_187640.1:g.7621A>T, NT_187640.1:g.7621A>G, NW_016107305.1:g.152884T>A, NW_016107305.1:g.152884T>C, NW_016107303.1:g.285676T>A, NW_016107303.1:g.285676T>C, NW_016107314.1:g.139243T>A, NW_016107314.1:g.139243T>C, NW_016107310.1:g.210472T>A, NW_016107310.1:g.210472T>C, NW_016107308.1:g.88592T>A, NW_016107308.1:g.88592T>C, XM_047438795.1:c.68T>A, XM_047438795.1:c.68T>C, NP_006728.2:p.Met23Lys, NP_006728.2:p.Met23Thr, NP_001229796.1:p.Met23Lys, NP_001229796.1:p.Met23Thr, XP_047294751.1:p.Met23Lys, XP_047294751.1:p.Met23Thr

              7.

              rs1478102919 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                19:54855849 (GRCh38)
                19:55367304 (GRCh37)
                Canonical SPDI:
                NC_000019.10:54855848:T:A
                Gene:
                KIR3DL2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000019.10:g.54855849T>A, NW_004166865.1:g.830217T>A, NG_012802.2:g.10530T>A, NM_006737.4:c.886T>A, NM_006737.3:c.886T>A, NM_001242867.2:c.886T>A, NM_001242867.1:c.886T>A, NW_003571058.2:g.837789T>A, NW_003571058.1:g.837788T>A, NW_003571059.2:g.774443T>A, NW_003571059.1:g.774442T>A, NT_113949.1:g.153048T>A, NT_187642.1:g.13080A>T, NW_003571055.2:g.501127T>A, NW_003571055.1:g.501126T>A, NW_003571056.2:g.835727T>A, NW_003571056.1:g.835726T>A, NT_187693.1:g.838418T>A, NC_000019.9:g.55367304T>A, NT_187676.1:g.131800T>A, NT_187677.1:g.133215T>A, NW_016107306.1:g.156452T>A, NT_187685.1:g.13565A>T, NT_187674.1:g.141874T>A, NW_016107312.1:g.56137A>T, NT_187675.1:g.226092T>A, NW_016107304.1:g.184929T>A, NT_187686.1:g.13539A>T, NT_187641.1:g.25334A>T, NT_187670.1:g.13446A>T, NT_187636.1:g.19659A>T, NT_187671.1:g.134796T>A, NW_016107313.1:g.157463T>A, NT_187683.1:g.130070T>A, NW_003571060.1:g.760227T>A, NT_187639.1:g.13515A>T, NT_187638.1:g.13391A>T, NT_187684.1:g.13205A>T, NT_187673.1:g.13207A>T, NT_187687.1:g.13205A>T, NT_187645.1:g.13205A>T, NT_187644.1:g.13193A>T, NT_187669.1:g.13206A>T, NT_187643.1:g.13206A>T, NT_187637.1:g.12942A>T, NW_016107301.1:g.157492T>A, NT_113949.2:g.6122A>T, NW_016107302.1:g.157504T>A, NW_016107307.1:g.157466T>A, NW_016107300.1:g.157299T>A, NW_016107309.1:g.157508T>A, NT_187668.1:g.3100A>T, NT_187640.1:g.3022A>T, NW_016107305.1:g.157487T>A, NW_016107303.1:g.290279T>A, NW_016107314.1:g.143839T>A, NW_016107310.1:g.215075T>A, XM_047438795.1:c.886T>A, NP_006728.2:p.Ser296Thr, NP_001229796.1:p.Ser296Thr, XP_047294751.1:p.Ser296Thr

                8.

                rs1478040256 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  19:54855639 (GRCh38)
                  19:55367094 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:54855638:C:A
                  Gene:
                  KIR3DL2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000019.10:g.54855639C>A, NW_004166865.1:g.830007C>A, NG_012802.2:g.10320C>A, NM_006737.4:c.676C>A, NM_006737.3:c.676C>A, NM_001242867.2:c.676C>A, NM_001242867.1:c.676C>A, NW_003571058.2:g.837579C>A, NW_003571058.1:g.837578C>A, NW_003571059.2:g.774233C>A, NW_003571059.1:g.774232C>A, NT_113949.1:g.152838C>A, NT_187642.1:g.13290G>T, NW_003571055.2:g.500917C>A, NW_003571055.1:g.500916C>A, NW_003571056.2:g.835517C>A, NW_003571056.1:g.835516C>A, NT_187693.1:g.838208C>A, NC_000019.9:g.55367094C>A, NT_187676.1:g.131590C>A, NT_187677.1:g.133005C>A, NW_016107306.1:g.156242C>A, NT_187685.1:g.13775G>T, NT_187674.1:g.141664C>A, NW_016107312.1:g.56347G>T, NT_187675.1:g.225882C>A, NW_016107304.1:g.184719C>A, NT_187686.1:g.13749G>T, NT_187641.1:g.25544G>T, NT_187670.1:g.13656G>T, NT_187636.1:g.19869G>T, NT_187671.1:g.134586C>A, NW_016107313.1:g.157253C>A, NT_187683.1:g.129860C>A, NW_003571060.1:g.760017C>A, NT_187639.1:g.13725G>T, NT_187638.1:g.13601G>T, NT_187684.1:g.13415G>T, NT_187673.1:g.13417G>T, NT_187687.1:g.13415G>T, NT_187645.1:g.13415G>T, NT_187644.1:g.13403G>T, NT_187669.1:g.13416G>T, NT_187643.1:g.13416G>T, NT_187637.1:g.13152G>T, NW_016107301.1:g.157282C>A, NT_113949.2:g.6332G>T, NW_016107302.1:g.157294C>A, NW_016107307.1:g.157256C>A, NW_016107300.1:g.157089C>A, NW_016107309.1:g.157298C>A, NT_187668.1:g.3310G>T, NT_187640.1:g.3232G>T, NW_016107305.1:g.157277C>A, NW_016107303.1:g.290069C>A, NW_016107314.1:g.143629C>A, NW_016107310.1:g.214865C>A, XM_047438795.1:c.676C>A, NP_006728.2:p.Leu226Ile, NP_001229796.1:p.Leu226Ile, XP_047294751.1:p.Leu226Ile

                  9.

                  rs1477182338 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:54865899 (GRCh38)
                    19:55377354 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:54865898:C:T
                    Gene:
                    KIR3DL2 (Varview)
                    Functional Consequence:
                    synonymous_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000019.10:g.54865899C>T, NW_004166865.1:g.840267C>T, NG_012802.2:g.20580C>T, NM_006737.4:c.1095C>T, NM_006737.3:c.1095C>T, NM_001242867.2:c.1044C>T, NM_001242867.1:c.1044C>T, NW_003571058.2:g.847839C>T, NW_003571058.1:g.847838C>T, NW_003571059.2:g.784489C>T, NW_003571059.1:g.784488C>T, NW_003571055.2:g.511173C>T, NW_003571055.1:g.511172C>T, NT_187693.1:g.848468C>T, NC_000019.9:g.55377354C>T, NT_187676.1:g.141849C>T, NT_187677.1:g.143265C>T, NW_016107306.1:g.166501C>T, NT_187685.1:g.3515G>A, NT_187674.1:g.151923C>T, NW_016107312.1:g.46087G>A, NT_187675.1:g.236138C>T, NW_016107304.1:g.194975C>T, NT_187686.1:g.3493G>A, NT_187641.1:g.15288G>A, NT_187670.1:g.3400G>A, NT_187636.1:g.9613G>A, NT_187671.1:g.144846C>T, NW_016107313.1:g.167511C>T, NT_187683.1:g.140118C>T, NW_003571060.1:g.770274C>T, NT_187639.1:g.3467G>A, NT_187638.1:g.3341G>A, NT_187684.1:g.3158G>A, NT_187673.1:g.3159G>A, NT_187687.1:g.3158G>A, NT_187645.1:g.3158G>A, NT_187644.1:g.3147G>A, NT_187669.1:g.3158G>A, NT_187643.1:g.3158G>A, NT_187642.1:g.3031G>A, NT_187637.1:g.2892G>A, NW_016107301.1:g.167539C>T, NW_016107302.1:g.167554C>T, NW_016107311.1:g.87023C>T, XM_047443108.1:c.132C>T

                    10.

                    rs1475099468 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:54866677 (GRCh38)
                      19:55378132 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:54866676:C:T
                      Gene:
                      KIR3DL2 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000019.10:g.54866677C>T, NW_004166865.1:g.841045C>T, NG_012802.2:g.21358C>T, NM_006737.4:c.1314C>T, NM_006737.3:c.1314C>T, NM_001242867.2:c.1263C>T, NM_001242867.1:c.1263C>T, NW_003571058.2:g.848617C>T, NW_003571058.1:g.848616C>T, NW_003571059.2:g.785267C>T, NW_003571059.1:g.785266C>T, NW_003571055.2:g.511951C>T, NW_003571055.1:g.511950C>T, NT_187693.1:g.849246C>T, NC_000019.9:g.55378132C>T, NT_187676.1:g.142627C>T, NT_187677.1:g.144043C>T, NW_016107306.1:g.167279C>T, NT_187685.1:g.2737G>A, NT_187674.1:g.152701C>T, NW_016107312.1:g.45309G>A, NT_187675.1:g.236916C>T, NW_016107304.1:g.195753C>T, NT_187686.1:g.2715G>A, NT_187641.1:g.14510G>A, NT_187670.1:g.2622G>A, NT_187636.1:g.8835G>A, NT_187671.1:g.145624C>T, NW_016107313.1:g.168289C>T, NT_187683.1:g.140896C>T, NW_003571060.1:g.771052C>T, NT_187639.1:g.2689G>A, NT_187638.1:g.2563G>A, NT_187684.1:g.2380G>A, NT_187673.1:g.2381G>A, NT_187687.1:g.2380G>A, NT_187645.1:g.2380G>A, NT_187644.1:g.2369G>A, NT_187669.1:g.2380G>A, NT_187643.1:g.2380G>A, NT_187642.1:g.2253G>A, NT_187637.1:g.2114G>A, NW_016107301.1:g.168317C>T, NW_016107311.1:g.87801C>T, XM_047438795.1:c.1158C>T, XM_047443108.1:c.351C>T

                      11.

                      rs1473570867 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        19:54852120 (GRCh38)
                        19:55363575 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:54852119:A:C
                        Gene:
                        KIR3DL2 (Varview)
                        Functional Consequence:
                        synonymous_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)
                        C=0.000011/2 (GnomAD_exomes)
                        HGVS:
                        NC_000019.10:g.54852120A>C, NW_004166865.1:g.826488A>C, NG_012802.2:g.6801A>C, NM_006737.4:c.193A>C, NM_006737.3:c.193A>C, NM_001242867.2:c.193A>C, NM_001242867.1:c.193A>C, NW_003571058.2:g.834057A>C, NW_003571058.1:g.834056A>C, NW_003571059.2:g.770707A>C, NW_003571059.1:g.770706A>C, NT_113949.1:g.149312A>C, NT_187642.1:g.16816T>G, NW_003571055.2:g.497391A>C, NW_003571055.1:g.497390A>C, NW_003571056.2:g.831998A>C, NW_003571056.1:g.831997A>C, NT_187693.1:g.834689A>C, NC_000019.9:g.55363575A>C, NT_187676.1:g.128064A>C, NT_187677.1:g.129486A>C, NW_016107306.1:g.152716A>C, NT_187685.1:g.17297T>G, NT_187674.1:g.138138A>C, NW_016107312.1:g.59873T>G, NT_187675.1:g.222356A>C, NW_016107304.1:g.181193A>C, NT_187686.1:g.17275T>G, NT_187641.1:g.29070T>G, NT_187670.1:g.17182T>G, NT_187636.1:g.23395T>G, NT_187671.1:g.131067A>C, NW_016107313.1:g.153727A>C, NT_187683.1:g.126334A>C, NW_003571060.1:g.756491A>C, NT_187639.1:g.17251T>G, NT_187638.1:g.17127T>G, NT_187684.1:g.16941T>G, NT_187673.1:g.16943T>G, NT_187687.1:g.16937T>G, NT_187645.1:g.16937T>G, NT_187644.1:g.16929T>G, NT_187669.1:g.16942T>G, NT_187643.1:g.16942T>G, NT_187637.1:g.16674T>G, NW_016107301.1:g.153763A>C, NW_003571057.2:g.859984A>C, NW_003571057.1:g.859983A>C, NT_113949.2:g.9858T>G, NW_016107302.1:g.153772A>C, NW_016107307.1:g.153734A>C, NW_016107300.1:g.153563A>C, NW_016107309.1:g.153772A>C, NT_187668.1:g.6836T>G, NT_187640.1:g.6754T>G, NW_016107305.1:g.153751A>C, NW_016107303.1:g.286543A>C, NW_016107314.1:g.140110A>C, NW_016107310.1:g.211339A>C, NW_016107308.1:g.89459A>C, XM_047438795.1:c.193A>C

                        12.

                        rs1472651341 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          19:54853843 (GRCh38)
                          19:55365298 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:54853842:A:G,NC_000019.10:54853842:A:T
                          Gene:
                          KIR3DL2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000019.10:g.54853843A>G, NC_000019.10:g.54853843A>T, NW_004166865.1:g.828211A>G, NW_004166865.1:g.828211A>T, NG_012802.2:g.8524A>G, NG_012802.2:g.8524A>T, NM_006737.4:c.452A>G, NM_006737.4:c.452A>T, NM_006737.3:c.452A>G, NM_006737.3:c.452A>T, NM_001242867.2:c.452A>G, NM_001242867.2:c.452A>T, NM_001242867.1:c.452A>G, NM_001242867.1:c.452A>T, NW_003571058.2:g.835780A>G, NW_003571058.2:g.835780A>T, NW_003571058.1:g.835779A>G, NW_003571058.1:g.835779A>T, NW_003571059.2:g.772430A>G, NW_003571059.2:g.772430A>T, NW_003571059.1:g.772429A>G, NW_003571059.1:g.772429A>T, NT_113949.1:g.151035A>G, NT_113949.1:g.151035A>T, NT_187642.1:g.15093T>C, NT_187642.1:g.15093T>A, NW_003571055.2:g.499114A>G, NW_003571055.2:g.499114A>T, NW_003571055.1:g.499113A>G, NW_003571055.1:g.499113A>T, NW_003571056.2:g.833721A>G, NW_003571056.2:g.833721A>T, NW_003571056.1:g.833720A>G, NW_003571056.1:g.833720A>T, NT_187693.1:g.836412A>G, NT_187693.1:g.836412A>T, NC_000019.9:g.55365298A>G, NC_000019.9:g.55365298A>T, NT_187676.1:g.129787A>G, NT_187676.1:g.129787A>T, NT_187677.1:g.131209A>G, NT_187677.1:g.131209A>T, NW_016107306.1:g.154439A>G, NW_016107306.1:g.154439A>T, NT_187685.1:g.15574T>C, NT_187685.1:g.15574T>A, NT_187674.1:g.139861A>G, NT_187674.1:g.139861A>T, NW_016107312.1:g.58150T>C, NW_016107312.1:g.58150T>A, NT_187675.1:g.224079A>G, NT_187675.1:g.224079A>T, NW_016107304.1:g.182916A>G, NW_016107304.1:g.182916A>T, NT_187686.1:g.15552T>C, NT_187686.1:g.15552T>A, NT_187641.1:g.27347T>C, NT_187641.1:g.27347T>A, NT_187670.1:g.15459T>C, NT_187670.1:g.15459T>A, NT_187636.1:g.21672T>C, NT_187636.1:g.21672T>A, NT_187671.1:g.132790A>G, NT_187671.1:g.132790A>T, NW_016107313.1:g.155450A>G, NW_016107313.1:g.155450A>T, NT_187683.1:g.128057A>G, NT_187683.1:g.128057A>T, NW_003571060.1:g.758214A>G, NW_003571060.1:g.758214A>T, NT_187639.1:g.15528T>C, NT_187639.1:g.15528T>A, NT_187638.1:g.15404T>C, NT_187638.1:g.15404T>A, NT_187684.1:g.15218T>C, NT_187684.1:g.15218T>A, NT_187673.1:g.15220T>C, NT_187673.1:g.15220T>A, NT_187687.1:g.15214T>C, NT_187687.1:g.15214T>A, NT_187645.1:g.15214T>C, NT_187645.1:g.15214T>A, NT_187644.1:g.15206T>C, NT_187644.1:g.15206T>A, NT_187669.1:g.15219T>C, NT_187669.1:g.15219T>A, NT_187643.1:g.15219T>C, NT_187643.1:g.15219T>A, NT_187637.1:g.14951T>C, NT_187637.1:g.14951T>A, NW_016107301.1:g.155486A>G, NW_016107301.1:g.155486A>T, NT_113949.2:g.8135T>C, NT_113949.2:g.8135T>A, NW_016107302.1:g.155495A>G, NW_016107302.1:g.155495A>T, NW_016107307.1:g.155457A>G, NW_016107307.1:g.155457A>T, NW_016107300.1:g.155286A>G, NW_016107300.1:g.155286A>T, NW_016107309.1:g.155495A>G, NW_016107309.1:g.155495A>T, NT_187668.1:g.5113T>C, NT_187668.1:g.5113T>A, NT_187640.1:g.5031T>C, NT_187640.1:g.5031T>A, NW_016107305.1:g.155474A>G, NW_016107305.1:g.155474A>T, NW_016107303.1:g.288266A>G, NW_016107303.1:g.288266A>T, NW_016107314.1:g.141833A>G, NW_016107314.1:g.141833A>T, NW_016107310.1:g.213062A>G, NW_016107310.1:g.213062A>T, XM_047438795.1:c.452A>G, XM_047438795.1:c.452A>T, NP_006728.2:p.Glu151Gly, NP_006728.2:p.Glu151Val, NP_001229796.1:p.Glu151Gly, NP_001229796.1:p.Glu151Val, XP_047294751.1:p.Glu151Gly, XP_047294751.1:p.Glu151Val

                          13.

                          rs1471277901 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CTT>- [Show Flanks]
                            Chromosome:
                            19:54851227 (GRCh38)
                            19:55362682 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:54851221:TTCTTCTT:TTCTT
                            Gene:
                            KIR3DL2 (Varview)
                            Functional Consequence:
                            inframe_deletion,coding_sequence_variant
                            HGVS:
                            NC_000019.10:g.54851224CTT[1], NW_004166865.1:g.825592CTT[1], NG_012802.2:g.5905CTT[1], NM_006737.4:c.39CTT[1], NM_006737.3:c.39CTT[1], NM_001242867.2:c.39CTT[1], NM_001242867.1:c.39CTT[1], NW_003571058.2:g.833161CTT[1], NW_003571058.1:g.833160CTT[1], NW_003571059.2:g.769811CTT[1], NW_003571059.1:g.769810CTT[1], NT_113949.1:g.148416CTT[1], NT_187642.1:g.17709GAA[1], NW_003571055.2:g.496495CTT[1], NW_003571055.1:g.496494CTT[1], NW_003571056.2:g.831102CTT[1], NW_003571056.1:g.831101CTT[1], NT_187693.1:g.833793CTT[1], NC_000019.9:g.55362679CTT[1], NT_187676.1:g.127168CTT[1], NT_187677.1:g.128590CTT[1], NW_016107306.1:g.151820CTT[1], NT_187685.1:g.18190GAA[1], NT_187674.1:g.137242CTT[1], NW_016107312.1:g.60766GAA[1], NT_187675.1:g.221460CTT[1], NW_016107304.1:g.180297CTT[1], NT_187686.1:g.18168GAA[1], NT_187641.1:g.29963GAA[1], NT_187670.1:g.18075GAA[1], NT_187636.1:g.24288GAA[1], NT_187671.1:g.130171CTT[1], NW_016107313.1:g.152831CTT[1], NT_187683.1:g.125438CTT[1], NW_003571060.1:g.755595CTT[1], NT_187639.1:g.18144GAA[1], NT_187638.1:g.18020GAA[1], NT_187684.1:g.17834GAA[1], NT_187673.1:g.17836GAA[1], NT_187687.1:g.17830GAA[1], NT_187645.1:g.17830GAA[1], NT_187644.1:g.17822GAA[1], NT_187669.1:g.17835GAA[1], NT_187643.1:g.17835GAA[1], NT_187637.1:g.17567GAA[1], NW_016107301.1:g.152867CTT[1], NW_003571057.2:g.859088CTT[1], NW_003571057.1:g.859087CTT[1], NT_113949.2:g.10751GAA[1], NW_016107302.1:g.152876CTT[1], NW_016107307.1:g.152838CTT[1], NW_016107300.1:g.152667CTT[1], NW_016107309.1:g.152876CTT[1], NT_187668.1:g.7729GAA[1], NT_187640.1:g.7647GAA[1], NW_016107305.1:g.152855CTT[1], NW_016107303.1:g.285647CTT[1], NW_016107314.1:g.139214CTT[1], NW_016107310.1:g.210443CTT[1], NW_016107308.1:g.88563CTT[1], XM_047438795.1:c.39CTT[1], NP_006728.2:p.Phe14del, NP_001229796.1:p.Phe14del, XP_047294751.1:p.Phe14del

                            14.

                            rs1467203245 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              19:54866725 (GRCh38)
                              19:55378180 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:54866724:T:A,NC_000019.10:54866724:T:C
                              Gene:
                              KIR3DL2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000019.10:g.54866725T>A, NC_000019.10:g.54866725T>C, NW_004166865.1:g.841093T>A, NW_004166865.1:g.841093T>C, NG_012802.2:g.21406T>A, NG_012802.2:g.21406T>C, NM_006737.4:c.1362T>A, NM_006737.4:c.1362T>C, NM_006737.3:c.1362T>A, NM_006737.3:c.1362T>C, NM_001242867.2:c.1311T>A, NM_001242867.2:c.1311T>C, NM_001242867.1:c.1311T>A, NM_001242867.1:c.1311T>C, NW_003571058.2:g.848665T>A, NW_003571058.2:g.848665T>C, NW_003571058.1:g.848664T>A, NW_003571058.1:g.848664T>C, NW_003571059.2:g.785315T>A, NW_003571059.2:g.785315T>C, NW_003571059.1:g.785314T>A, NW_003571059.1:g.785314T>C, NW_003571055.2:g.511999T>A, NW_003571055.2:g.511999T>C, NW_003571055.1:g.511998T>A, NW_003571055.1:g.511998T>C, NT_187693.1:g.849294T>A, NT_187693.1:g.849294T>C, NC_000019.9:g.55378180T>A, NC_000019.9:g.55378180T>C, NT_187676.1:g.142675T>A, NT_187676.1:g.142675T>C, NT_187677.1:g.144091T>A, NT_187677.1:g.144091T>C, NW_016107306.1:g.167327T>A, NW_016107306.1:g.167327T>C, NT_187685.1:g.2689A>T, NT_187685.1:g.2689A>G, NT_187674.1:g.152749T>A, NT_187674.1:g.152749T>C, NW_016107312.1:g.45261A>T, NW_016107312.1:g.45261A>G, NT_187675.1:g.236964T>A, NT_187675.1:g.236964T>C, NW_016107304.1:g.195801T>A, NW_016107304.1:g.195801T>C, NT_187686.1:g.2667A>T, NT_187686.1:g.2667A>G, NT_187641.1:g.14462A>T, NT_187641.1:g.14462A>G, NT_187670.1:g.2574A>T, NT_187670.1:g.2574A>G, NT_187636.1:g.8787A>T, NT_187636.1:g.8787A>G, NT_187671.1:g.145672T>A, NT_187671.1:g.145672T>C, NW_016107313.1:g.168337T>A, NW_016107313.1:g.168337T>C, NT_187683.1:g.140944T>A, NT_187683.1:g.140944T>C, NW_003571060.1:g.771100T>A, NW_003571060.1:g.771100T>C, NT_187639.1:g.2641A>T, NT_187639.1:g.2641A>G, NT_187638.1:g.2515A>T, NT_187638.1:g.2515A>G, NT_187684.1:g.2332A>T, NT_187684.1:g.2332A>G, NT_187673.1:g.2333A>T, NT_187673.1:g.2333A>G, NT_187687.1:g.2332A>T, NT_187687.1:g.2332A>G, NT_187645.1:g.2332A>T, NT_187645.1:g.2332A>G, NT_187644.1:g.2321A>T, NT_187644.1:g.2321A>G, NT_187669.1:g.2332A>T, NT_187669.1:g.2332A>G, NT_187643.1:g.2332A>T, NT_187643.1:g.2332A>G, NT_187642.1:g.2205A>T, NT_187642.1:g.2205A>G, NT_187637.1:g.2066A>T, NT_187637.1:g.2066A>G, NW_016107301.1:g.168365T>A, NW_016107301.1:g.168365T>C, NW_016107311.1:g.87849T>A, NW_016107311.1:g.87849T>C, XM_047438795.1:c.1206T>A, XM_047438795.1:c.1206T>C, XM_047443108.1:c.399T>A, XM_047443108.1:c.399T>C

                              15.

                              rs1464557157 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:54853861 (GRCh38)
                                19:55365316 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:54853860:G:A
                                Gene:
                                KIR3DL2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.00004/2 (GnomAD_exomes)
                                HGVS:
                                NC_000019.10:g.54853861G>A, NW_004166865.1:g.828229G>A, NG_012802.2:g.8542G>A, NM_006737.4:c.470G>A, NM_006737.3:c.470G>A, NM_001242867.2:c.470G>A, NM_001242867.1:c.470G>A, NW_003571058.2:g.835798G>A, NW_003571058.1:g.835797G>A, NW_003571059.2:g.772448G>A, NW_003571059.1:g.772447G>A, NT_113949.1:g.151053G>A, NT_187642.1:g.15075C>T, NW_003571055.2:g.499132G>A, NW_003571055.1:g.499131G>A, NW_003571056.2:g.833739G>A, NW_003571056.1:g.833738G>A, NT_187693.1:g.836430G>A, NC_000019.9:g.55365316G>A, NT_187676.1:g.129805G>A, NT_187677.1:g.131227G>A, NW_016107306.1:g.154457G>A, NT_187685.1:g.15556C>T, NT_187674.1:g.139879G>A, NW_016107312.1:g.58132C>T, NT_187675.1:g.224097G>A, NW_016107304.1:g.182934G>A, NT_187686.1:g.15534C>T, NT_187641.1:g.27329C>T, NT_187670.1:g.15441C>T, NT_187636.1:g.21654C>T, NT_187671.1:g.132808G>A, NW_016107313.1:g.155468G>A, NT_187683.1:g.128075G>A, NW_003571060.1:g.758232G>A, NT_187639.1:g.15510C>T, NT_187638.1:g.15386C>T, NT_187684.1:g.15200C>T, NT_187673.1:g.15202C>T, NT_187687.1:g.15196C>T, NT_187645.1:g.15196C>T, NT_187644.1:g.15188C>T, NT_187669.1:g.15201C>T, NT_187643.1:g.15201C>T, NT_187637.1:g.14933C>T, NW_016107301.1:g.155504G>A, NT_113949.2:g.8117C>T, NW_016107302.1:g.155513G>A, NW_016107307.1:g.155475G>A, NW_016107300.1:g.155304G>A, NW_016107309.1:g.155513G>A, NT_187668.1:g.5095C>T, NT_187640.1:g.5013C>T, NW_016107305.1:g.155492G>A, NW_016107303.1:g.288284G>A, NW_016107314.1:g.141851G>A, NW_016107310.1:g.213080G>A, XM_047438795.1:c.470G>A, NP_006728.2:p.Arg157Lys, NP_001229796.1:p.Arg157Lys, XP_047294751.1:p.Arg157Lys

                                16.

                                rs1462028082 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  19:54853833 (GRCh38)
                                  19:55365288 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:54853832:G:
                                  Gene:
                                  KIR3DL2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  -=0.000041/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.54853833del, NW_004166865.1:g.828201del, NG_012802.2:g.8514del, NM_006737.4:c.442del, NM_006737.3:c.442del, NM_001242867.2:c.442del, NM_001242867.1:c.442del, NW_003571058.2:g.835770del, NW_003571058.1:g.835769del, NW_003571059.2:g.772420del, NW_003571059.1:g.772419del, NT_113949.1:g.151025del, NT_187642.1:g.15103del, NW_003571055.2:g.499104del, NW_003571055.1:g.499103del, NW_003571056.2:g.833711del, NW_003571056.1:g.833710del, NT_187693.1:g.836402del, NC_000019.9:g.55365288del, NT_187676.1:g.129777del, NT_187677.1:g.131199del, NW_016107306.1:g.154429del, NT_187685.1:g.15584del, NT_187674.1:g.139851del, NW_016107312.1:g.58160del, NT_187675.1:g.224069del, NW_016107304.1:g.182906del, NT_187686.1:g.15562del, NT_187641.1:g.27357del, NT_187670.1:g.15469del, NT_187636.1:g.21682del, NT_187671.1:g.132780del, NW_016107313.1:g.155440del, NT_187683.1:g.128047del, NW_003571060.1:g.758204del, NT_187639.1:g.15538del, NT_187638.1:g.15414del, NT_187684.1:g.15228del, NT_187673.1:g.15230T>C, NT_187673.1:g.15230del, NT_187687.1:g.15224del, NT_187645.1:g.15224del, NT_187644.1:g.15216del, NT_187669.1:g.15229del, NT_187643.1:g.15229del, NT_187637.1:g.14961del, NW_016107301.1:g.155476del, NT_113949.2:g.8145del, NW_016107302.1:g.155485del, NW_016107307.1:g.155447del, NW_016107300.1:g.155276del, NW_016107309.1:g.155485del, NT_187668.1:g.5123del, NT_187640.1:g.5041del, NW_016107305.1:g.155464del, NW_016107303.1:g.288256del, NW_016107314.1:g.141823del, NW_016107310.1:g.213052del, XM_047438795.1:c.442del, NP_006728.2:p.Val148fs, NP_001229796.1:p.Val148fs, XP_047294751.1:p.Val148fs

                                  17.

                                  rs1459260780 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:54855653 (GRCh38)
                                    19:55367108 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:54855652:G:A
                                    Gene:
                                    KIR3DL2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000014/2 (GnomAD)
                                    A=0.000023/6 (TOPMED)
                                    HGVS:
                                    NC_000019.10:g.54855653G>A, NW_004166865.1:g.830021G>A, NG_012802.2:g.10334G>A, NM_006737.4:c.690G>A, NM_006737.3:c.690G>A, NM_001242867.2:c.690G>A, NM_001242867.1:c.690G>A, NW_003571058.2:g.837593G>A, NW_003571058.1:g.837592G>A, NW_003571059.2:g.774247G>A, NW_003571059.1:g.774246G>A, NT_113949.1:g.152852G>A, NT_187642.1:g.13276C>T, NW_003571055.2:g.500931G>A, NW_003571055.1:g.500930G>A, NW_003571056.2:g.835531G>A, NW_003571056.1:g.835530G>A, NT_187693.1:g.838222G>A, NC_000019.9:g.55367108G>A, NT_187676.1:g.131604G>A, NT_187677.1:g.133019G>A, NW_016107306.1:g.156256G>A, NT_187685.1:g.13761C>T, NT_187674.1:g.141678G>A, NW_016107312.1:g.56333C>T, NT_187675.1:g.225896G>A, NW_016107304.1:g.184733G>A, NT_187686.1:g.13735C>T, NT_187641.1:g.25530C>T, NT_187670.1:g.13642C>T, NT_187636.1:g.19855C>T, NT_187671.1:g.134600G>A, NW_016107313.1:g.157267G>A, NT_187683.1:g.129874G>A, NW_003571060.1:g.760031G>A, NT_187639.1:g.13711C>T, NT_187638.1:g.13587C>T, NT_187684.1:g.13401C>T, NT_187673.1:g.13403C>T, NT_187687.1:g.13401C>T, NT_187645.1:g.13401C>T, NT_187644.1:g.13389C>T, NT_187669.1:g.13402C>T, NT_187643.1:g.13402C>T, NT_187637.1:g.13138C>T, NW_016107301.1:g.157296G>A, NT_113949.2:g.6318C>T, NW_016107302.1:g.157308G>A, NW_016107307.1:g.157270G>A, NW_016107300.1:g.157103G>A, NW_016107309.1:g.157312G>A, NT_187668.1:g.3296C>T, NT_187640.1:g.3218C>T, NW_016107305.1:g.157291G>A, NW_016107303.1:g.290083G>A, NW_016107314.1:g.143643G>A, NW_016107310.1:g.214879G>A, XM_047438795.1:c.690G>A

                                    18.

                                    rs1459245635 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:54865896 (GRCh38)
                                      19:55377351 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:54865895:C:T
                                      Gene:
                                      KIR3DL2 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000019.10:g.54865896C>T, NW_004166865.1:g.840264C>T, NG_012802.2:g.20577C>T, NM_006737.4:c.1092C>T, NM_006737.3:c.1092C>T, NM_001242867.2:c.1041C>T, NM_001242867.1:c.1041C>T, NW_003571058.2:g.847836C>T, NW_003571058.1:g.847835C>T, NW_003571059.2:g.784486C>T, NW_003571059.1:g.784485C>T, NW_003571055.2:g.511170C>T, NW_003571055.1:g.511169C>T, NT_187693.1:g.848465C>T, NC_000019.9:g.55377351C>T, NT_187676.1:g.141846C>T, NT_187677.1:g.143262C>T, NW_016107306.1:g.166498C>T, NT_187685.1:g.3518G>A, NT_187674.1:g.151920C>T, NW_016107312.1:g.46090G>A, NT_187675.1:g.236135C>T, NW_016107304.1:g.194972C>T, NT_187686.1:g.3496G>A, NT_187641.1:g.15291G>A, NT_187670.1:g.3403G>A, NT_187636.1:g.9616G>A, NT_187671.1:g.144843C>T, NW_016107313.1:g.167508C>T, NT_187683.1:g.140115C>T, NW_003571060.1:g.770271C>T, NT_187639.1:g.3470G>A, NT_187638.1:g.3344G>A, NT_187684.1:g.3161G>A, NT_187673.1:g.3162G>A, NT_187687.1:g.3161G>A, NT_187645.1:g.3161G>A, NT_187644.1:g.3150G>A, NT_187669.1:g.3161G>A, NT_187643.1:g.3161G>A, NT_187642.1:g.3034G>A, NT_187637.1:g.2895G>A, NW_016107301.1:g.167536C>T, NW_016107302.1:g.167551C>T, NW_016107311.1:g.87020C>T, XM_047443108.1:c.129C>T

                                      19.

                                      rs1459078108 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:54853822 (GRCh38)
                                        19:55365277 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:54853821:G:A
                                        Gene:
                                        KIR3DL2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_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_000019.10:g.54853822G>A, NW_004166865.1:g.828190G>A, NG_012802.2:g.8503G>A, NM_006737.4:c.431G>A, NM_006737.3:c.431G>A, NM_001242867.2:c.431G>A, NM_001242867.1:c.431G>A, NW_003571058.2:g.835759G>A, NW_003571058.1:g.835758G>A, NW_003571059.2:g.772409G>A, NW_003571059.1:g.772408G>A, NT_113949.1:g.151014G>A, NT_187642.1:g.15114C>T, NW_003571055.2:g.499093G>A, NW_003571055.1:g.499092G>A, NW_003571056.2:g.833700G>A, NW_003571056.1:g.833699G>A, NT_187693.1:g.836391G>A, NC_000019.9:g.55365277G>A, NT_187676.1:g.129766G>A, NT_187677.1:g.131188G>A, NW_016107306.1:g.154418G>A, NT_187685.1:g.15595C>T, NT_187674.1:g.139840G>A, NW_016107312.1:g.58171C>T, NT_187675.1:g.224058G>A, NW_016107304.1:g.182895G>A, NT_187686.1:g.15573C>T, NT_187641.1:g.27368C>T, NT_187670.1:g.15480C>T, NT_187636.1:g.21693C>T, NT_187671.1:g.132769G>A, NW_016107313.1:g.155429G>A, NT_187683.1:g.128036G>A, NW_003571060.1:g.758193G>A, NT_187639.1:g.15549C>T, NT_187638.1:g.15425C>T, NT_187684.1:g.15239C>T, NT_187673.1:g.15241C>T, NT_187687.1:g.15235C>T, NT_187645.1:g.15235C>T, NT_187644.1:g.15227C>T, NT_187669.1:g.15240C>T, NT_187643.1:g.15240C>T, NT_187637.1:g.14972C>T, NW_016107301.1:g.155465G>A, NT_113949.2:g.8156C>T, NW_016107302.1:g.155474G>A, NW_016107307.1:g.155436G>A, NW_016107300.1:g.155265G>A, NW_016107309.1:g.155474G>A, NT_187668.1:g.5134C>T, NT_187640.1:g.5052C>T, NW_016107305.1:g.155453G>A, NW_016107303.1:g.288245G>A, NW_016107314.1:g.141812G>A, NW_016107310.1:g.213041G>A, XM_047438795.1:c.431G>A, NP_006728.2:p.Cys144Tyr, NP_001229796.1:p.Cys144Tyr, XP_047294751.1:p.Cys144Tyr

                                        20.

                                        rs1457728232 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AGA>- [Show Flanks]
                                          Chromosome:
                                          19:54852116 (GRCh38)
                                          19:55363571 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:54852111:AAGAAGA:AAGA
                                          Gene:
                                          KIR3DL2 (Varview)
                                          Functional Consequence:
                                          inframe_deletion,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000034/6 (GnomAD_exomes)
                                          HGVS:
                                          NC_000019.10:g.54852113AGA[1], NW_004166865.1:g.826481AGA[1], NG_012802.2:g.6794AGA[1], NM_006737.4:c.186AGA[1], NM_006737.3:c.186AGA[1], NM_001242867.2:c.186AGA[1], NM_001242867.1:c.186AGA[1], NW_003571058.2:g.834050AGA[1], NW_003571058.1:g.834049AGA[1], NW_003571059.2:g.770700AGA[1], NW_003571059.1:g.770699AGA[1], NT_113949.1:g.149305AGA[1], NT_187642.1:g.16819CTT[1], NW_003571055.2:g.497384AGA[1], NW_003571055.1:g.497383AGA[1], NW_003571056.2:g.831991AGA[1], NW_003571056.1:g.831990AGA[1], NT_187693.1:g.834682AGA[1], NC_000019.9:g.55363568AGA[1], NT_187676.1:g.128057AGA[1], NT_187677.1:g.129479AGA[1], NW_016107306.1:g.152709AGA[1], NT_187685.1:g.17300CTT[1], NT_187674.1:g.138131AGA[1], NW_016107312.1:g.59876CTT[1], NT_187675.1:g.222349AGA[1], NW_016107304.1:g.181186AGA[1], NT_187686.1:g.17278CTT[1], NT_187641.1:g.29073CTT[1], NT_187670.1:g.17185CTT[1], NT_187636.1:g.23398CTT[1], NT_187671.1:g.131060AGA[1], NW_016107313.1:g.153720AGA[1], NT_187683.1:g.126327AGA[1], NW_003571060.1:g.756484AGA[1], NT_187639.1:g.17254CTT[1], NT_187638.1:g.17130CTT[1], NT_187684.1:g.16944CTT[1], NT_187673.1:g.16946CTT[1], NT_187687.1:g.16940CTT[1], NT_187645.1:g.16940CTT[1], NT_187644.1:g.16932CTT[1], NT_187669.1:g.16945CTT[1], NT_187643.1:g.16945CTT[1], NT_187637.1:g.16677CTT[1], NW_016107301.1:g.153756AGA[1], NW_003571057.2:g.859977AGA[1], NW_003571057.1:g.859976AGA[1], NT_113949.2:g.9861CTT[1], NW_016107302.1:g.153765AGA[1], NW_016107307.1:g.153727AGA[1], NW_016107300.1:g.153556AGA[1], NW_016107309.1:g.153765AGA[1], NT_187668.1:g.6839CTT[1], NT_187640.1:g.6757CTT[1], NW_016107305.1:g.153744AGA[1], NW_016107303.1:g.286536AGA[1], NW_016107314.1:g.140103AGA[1], NW_016107310.1:g.211332AGA[1], NW_016107308.1:g.89452AGA[1], XM_047438795.1:c.186AGA[1], NP_006728.2:p.Glu63del, NP_001229796.1:p.Glu63del, XP_047294751.1:p.Glu63del

                                          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...