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Items: 1 to 20 of 366

1.

rs1487621407 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:212997171 (GRCh38)
    1:213170513 (GRCh37)
    Canonical SPDI:
    NC_000001.11:212997170:A:G
    Gene:
    ANGEL2 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000031/1 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1487297986 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:213000813 (GRCh38)
      1:213174155 (GRCh37)
      Canonical SPDI:
      NC_000001.11:213000812:G:A
      Gene:
      ANGEL2 (Varview)
      Functional Consequence:
      intron_variant,stop_gained,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.213000813G>A, NC_000001.10:g.213174155G>A, NM_144567.5:c.1234C>T, NM_144567.4:c.1234C>T, NM_144567.3:c.1234C>T, XM_005273347.4:c.997C>T, XM_005273347.3:c.997C>T, XM_005273347.2:c.997C>T, XM_005273347.1:c.997C>T, XM_005273346.3:c.1168C>T, XM_005273346.2:c.1168C>T, XM_005273346.1:c.1168C>T, NM_001300755.2:c.856C>T, NM_001300755.1:c.856C>T, XM_017002774.2:c.1168C>T, XM_017002774.1:c.1168C>T, NM_001300753.2:c.856C>T, NM_001300753.1:c.856C>T, XM_005273345.2:c.1168C>T, XM_005273345.1:c.1168C>T, XM_005273344.2:c.1168C>T, XM_005273344.1:c.1168C>T, NM_001300757.2:c.727C>T, NM_001300757.1:c.727C>T, NM_001300758.2:c.727C>T, NM_001300758.1:c.727C>T, XM_047433784.1:c.856C>T, NP_653168.2:p.Gln412Ter, XP_005273404.1:p.Gln333Ter, XP_005273403.1:p.Gln390Ter, NP_001287684.1:p.Gln286Ter, XP_016858263.1:p.Gln390Ter, NP_001287682.1:p.Gln286Ter, XP_005273402.1:p.Gln390Ter, XP_005273401.1:p.Gln390Ter, NP_001287686.1:p.Gln243Ter, NP_001287687.1:p.Gln243Ter, XP_047289740.1:p.Gln286Ter

      3.

      rs1485360803 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:213008270 (GRCh38)
        1:213181612 (GRCh37)
        Canonical SPDI:
        NC_000001.11:213008269:T:C
        Gene:
        ANGEL2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000008/2 (GnomAD_exomes)
        HGVS:

        4.

        rs1484461009 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:213005359 (GRCh38)
          1:213178701 (GRCh37)
          Canonical SPDI:
          NC_000001.11:213005358:G:A
          Gene:
          ANGEL2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000011/3 (TOPMED)
          HGVS:
          NC_000001.11:g.213005359G>A, NC_000001.10:g.213178701G>A, NM_144567.5:c.808C>T, NM_144567.4:c.808C>T, NM_144567.3:c.808C>T, XM_005273347.4:c.571C>T, XM_005273347.3:c.571C>T, XM_005273347.2:c.571C>T, XM_005273347.1:c.571C>T, XM_005273346.3:c.742C>T, XM_005273346.2:c.742C>T, XM_005273346.1:c.742C>T, NM_001300755.2:c.430C>T, NM_001300755.1:c.430C>T, XM_017002774.2:c.742C>T, XM_017002774.1:c.742C>T, NM_001300753.2:c.430C>T, NM_001300753.1:c.430C>T, XM_005273345.2:c.742C>T, XM_005273345.1:c.742C>T, XM_005273344.2:c.742C>T, XM_005273344.1:c.742C>T, NM_001300757.2:c.301C>T, NM_001300757.1:c.301C>T, NM_001300758.2:c.301C>T, NM_001300758.1:c.301C>T, NR_125333.2:n.678C>T, NR_125333.1:n.686C>T, XM_047433784.1:c.430C>T, XM_047433785.1:c.808C>T, NP_653168.2:p.Pro270Ser, XP_005273404.1:p.Pro191Ser, XP_005273403.1:p.Pro248Ser, NP_001287684.1:p.Pro144Ser, XP_016858263.1:p.Pro248Ser, NP_001287682.1:p.Pro144Ser, XP_005273402.1:p.Pro248Ser, XP_005273401.1:p.Pro248Ser, NP_001287686.1:p.Pro101Ser, NP_001287687.1:p.Pro101Ser, XP_047289740.1:p.Pro144Ser, XP_047289741.1:p.Pro270Ser

          5.

          rs1482615542 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:212995135 (GRCh38)
            1:213168477 (GRCh37)
            Canonical SPDI:
            NC_000001.11:212995134:G:A
            Gene:
            ANGEL2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.212995135G>A, NC_000001.10:g.213168477G>A, NM_144567.5:c.1541C>T, NM_144567.4:c.1541C>T, NM_144567.3:c.1541C>T, XM_005273347.4:c.1304C>T, XM_005273347.3:c.1304C>T, XM_005273347.2:c.1304C>T, XM_005273347.1:c.1304C>T, XM_005273346.3:c.1475C>T, XM_005273346.2:c.1475C>T, XM_005273346.1:c.1475C>T, NM_001300755.2:c.1163C>T, NM_001300755.1:c.1163C>T, XM_017002774.2:c.1475C>T, XM_017002774.1:c.1475C>T, NM_001300753.2:c.1163C>T, NM_001300753.1:c.1163C>T, XM_005273345.2:c.1475C>T, XM_005273345.1:c.1475C>T, XM_005273344.2:c.1475C>T, XM_005273344.1:c.1475C>T, NM_001300757.2:c.1034C>T, NM_001300757.1:c.1034C>T, NM_001300758.2:c.1034C>T, NM_001300758.1:c.1034C>T, NR_125333.2:n.1284C>T, NR_125333.1:n.1292C>T, XM_047433784.1:c.1163C>T, NP_653168.2:p.Thr514Ile, XP_005273404.1:p.Thr435Ile, XP_005273403.1:p.Thr492Ile, NP_001287684.1:p.Thr388Ile, XP_016858263.1:p.Thr492Ile, NP_001287682.1:p.Thr388Ile, XP_005273402.1:p.Thr492Ile, XP_005273401.1:p.Thr492Ile, NP_001287686.1:p.Thr345Ile, NP_001287687.1:p.Thr345Ile, XP_047289740.1:p.Thr388Ile

            6.

            rs1480947922 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              1:213000858 (GRCh38)
              1:213174200 (GRCh37)
              Canonical SPDI:
              NC_000001.11:213000857:A:C
              Gene:
              ANGEL2 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant
              HGVS:
              NC_000001.11:g.213000858A>C, NC_000001.10:g.213174200A>C, NM_144567.5:c.1189T>G, NM_144567.4:c.1189T>G, NM_144567.3:c.1189T>G, XM_005273347.4:c.952T>G, XM_005273347.3:c.952T>G, XM_005273347.2:c.952T>G, XM_005273347.1:c.952T>G, XM_005273346.3:c.1123T>G, XM_005273346.2:c.1123T>G, XM_005273346.1:c.1123T>G, NM_001300755.2:c.811T>G, NM_001300755.1:c.811T>G, XM_017002774.2:c.1123T>G, XM_017002774.1:c.1123T>G, NM_001300753.2:c.811T>G, NM_001300753.1:c.811T>G, XM_005273345.2:c.1123T>G, XM_005273345.1:c.1123T>G, XM_005273344.2:c.1123T>G, XM_005273344.1:c.1123T>G, NM_001300757.2:c.682T>G, NM_001300757.1:c.682T>G, NM_001300758.2:c.682T>G, NM_001300758.1:c.682T>G, XM_047433784.1:c.811T>G, NP_653168.2:p.Trp397Gly, XP_005273404.1:p.Trp318Gly, XP_005273403.1:p.Trp375Gly, NP_001287684.1:p.Trp271Gly, XP_016858263.1:p.Trp375Gly, NP_001287682.1:p.Trp271Gly, XP_005273402.1:p.Trp375Gly, XP_005273401.1:p.Trp375Gly, NP_001287686.1:p.Trp228Gly, NP_001287687.1:p.Trp228Gly, XP_047289740.1:p.Trp271Gly

              7.

              rs1479865520 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                1:213008254 (GRCh38)
                1:213181596 (GRCh37)
                Canonical SPDI:
                NC_000001.11:213008253:T:G
                Gene:
                ANGEL2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1479833554 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:213005082 (GRCh38)
                  1:213178424 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:213005081:C:T
                  Gene:
                  ANGEL2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.213005082C>T, NC_000001.10:g.213178424C>T, NM_144567.5:c.1085G>A, NM_144567.4:c.1085G>A, NM_144567.3:c.1085G>A, XM_005273347.4:c.848G>A, XM_005273347.3:c.848G>A, XM_005273347.2:c.848G>A, XM_005273347.1:c.848G>A, XM_005273346.3:c.1019G>A, XM_005273346.2:c.1019G>A, XM_005273346.1:c.1019G>A, NM_001300755.2:c.707G>A, NM_001300755.1:c.707G>A, XM_017002774.2:c.1019G>A, XM_017002774.1:c.1019G>A, NM_001300753.2:c.707G>A, NM_001300753.1:c.707G>A, XM_005273345.2:c.1019G>A, XM_005273345.1:c.1019G>A, XM_005273344.2:c.1019G>A, XM_005273344.1:c.1019G>A, NM_001300757.2:c.578G>A, NM_001300757.1:c.578G>A, NM_001300758.2:c.578G>A, NM_001300758.1:c.578G>A, NR_125333.2:n.955G>A, NR_125333.1:n.963G>A, XM_047433784.1:c.707G>A, XM_047433785.1:c.1085G>A, NP_653168.2:p.Ser362Asn, XP_005273404.1:p.Ser283Asn, XP_005273403.1:p.Ser340Asn, NP_001287684.1:p.Ser236Asn, XP_016858263.1:p.Ser340Asn, NP_001287682.1:p.Ser236Asn, XP_005273402.1:p.Ser340Asn, XP_005273401.1:p.Ser340Asn, NP_001287686.1:p.Ser193Asn, NP_001287687.1:p.Ser193Asn, XP_047289740.1:p.Ser236Asn, XP_047289741.1:p.Ser362Asn

                  9.

                  rs1468477484 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:212997275 (GRCh38)
                    1:213170617 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:212997274:A:G
                    Gene:
                    ANGEL2 (Varview)
                    Functional Consequence:
                    missense_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_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_000001.11:g.212997275A>G, NC_000001.10:g.213170617A>G, NM_144567.5:c.1363T>C, NM_144567.4:c.1363T>C, NM_144567.3:c.1363T>C, XM_005273347.4:c.1126T>C, XM_005273347.3:c.1126T>C, XM_005273347.2:c.1126T>C, XM_005273347.1:c.1126T>C, XM_005273346.3:c.1297T>C, XM_005273346.2:c.1297T>C, XM_005273346.1:c.1297T>C, NM_001300755.2:c.985T>C, NM_001300755.1:c.985T>C, XM_017002774.2:c.1297T>C, XM_017002774.1:c.1297T>C, NM_001300753.2:c.985T>C, NM_001300753.1:c.985T>C, XM_005273345.2:c.1297T>C, XM_005273345.1:c.1297T>C, XM_005273344.2:c.1297T>C, XM_005273344.1:c.1297T>C, NM_001300757.2:c.856T>C, NM_001300757.1:c.856T>C, NM_001300758.2:c.856T>C, NM_001300758.1:c.856T>C, NR_125333.2:n.1106T>C, NR_125333.1:n.1114T>C, XM_047433784.1:c.985T>C, XM_047433785.1:c.*90T>C, NP_653168.2:p.Tyr455His, XP_005273404.1:p.Tyr376His, XP_005273403.1:p.Tyr433His, NP_001287684.1:p.Tyr329His, XP_016858263.1:p.Tyr433His, NP_001287682.1:p.Tyr329His, XP_005273402.1:p.Tyr433His, XP_005273401.1:p.Tyr433His, NP_001287686.1:p.Tyr286His, NP_001287687.1:p.Tyr286His, XP_047289740.1:p.Tyr329His

                    10.

                    rs1466887369 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      1:213005340 (GRCh38)
                      1:213178682 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:213005339:G:A,NC_000001.11:213005339:G:C
                      Gene:
                      ANGEL2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      NC_000001.11:g.213005340G>A, NC_000001.11:g.213005340G>C, NC_000001.10:g.213178682G>A, NC_000001.10:g.213178682G>C, NM_144567.5:c.827C>T, NM_144567.5:c.827C>G, NM_144567.4:c.827C>T, NM_144567.4:c.827C>G, NM_144567.3:c.827C>T, NM_144567.3:c.827C>G, XM_005273347.4:c.590C>T, XM_005273347.4:c.590C>G, XM_005273347.3:c.590C>T, XM_005273347.3:c.590C>G, XM_005273347.2:c.590C>T, XM_005273347.2:c.590C>G, XM_005273347.1:c.590C>T, XM_005273347.1:c.590C>G, XM_005273346.3:c.761C>T, XM_005273346.3:c.761C>G, XM_005273346.2:c.761C>T, XM_005273346.2:c.761C>G, XM_005273346.1:c.761C>T, XM_005273346.1:c.761C>G, NM_001300755.2:c.449C>T, NM_001300755.2:c.449C>G, NM_001300755.1:c.449C>T, NM_001300755.1:c.449C>G, XM_017002774.2:c.761C>T, XM_017002774.2:c.761C>G, XM_017002774.1:c.761C>T, XM_017002774.1:c.761C>G, NM_001300753.2:c.449C>T, NM_001300753.2:c.449C>G, NM_001300753.1:c.449C>T, NM_001300753.1:c.449C>G, XM_005273345.2:c.761C>T, XM_005273345.2:c.761C>G, XM_005273345.1:c.761C>T, XM_005273345.1:c.761C>G, XM_005273344.2:c.761C>T, XM_005273344.2:c.761C>G, XM_005273344.1:c.761C>T, XM_005273344.1:c.761C>G, NM_001300757.2:c.320C>T, NM_001300757.2:c.320C>G, NM_001300757.1:c.320C>T, NM_001300757.1:c.320C>G, NM_001300758.2:c.320C>T, NM_001300758.2:c.320C>G, NM_001300758.1:c.320C>T, NM_001300758.1:c.320C>G, NR_125333.2:n.697C>T, NR_125333.2:n.697C>G, NR_125333.1:n.705C>T, NR_125333.1:n.705C>G, XM_047433784.1:c.449C>T, XM_047433784.1:c.449C>G, XM_047433785.1:c.827C>T, XM_047433785.1:c.827C>G, NP_653168.2:p.Pro276Leu, NP_653168.2:p.Pro276Arg, XP_005273404.1:p.Pro197Leu, XP_005273404.1:p.Pro197Arg, XP_005273403.1:p.Pro254Leu, XP_005273403.1:p.Pro254Arg, NP_001287684.1:p.Pro150Leu, NP_001287684.1:p.Pro150Arg, XP_016858263.1:p.Pro254Leu, XP_016858263.1:p.Pro254Arg, NP_001287682.1:p.Pro150Leu, NP_001287682.1:p.Pro150Arg, XP_005273402.1:p.Pro254Leu, XP_005273402.1:p.Pro254Arg, XP_005273401.1:p.Pro254Leu, XP_005273401.1:p.Pro254Arg, NP_001287686.1:p.Pro107Leu, NP_001287686.1:p.Pro107Arg, NP_001287687.1:p.Pro107Leu, NP_001287687.1:p.Pro107Arg, XP_047289740.1:p.Pro150Leu, XP_047289740.1:p.Pro150Arg, XP_047289741.1:p.Pro276Leu, XP_047289741.1:p.Pro276Arg

                      11.

                      rs1465596271 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        1:213005444 (GRCh38)
                        1:213178786 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:213005443:A:T
                        Gene:
                        ANGEL2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,stop_gained,non_coding_transcript_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_000001.11:g.213005444A>T, NC_000001.10:g.213178786A>T, NM_144567.5:c.723T>A, NM_144567.4:c.723T>A, NM_144567.3:c.723T>A, XM_005273347.4:c.486T>A, XM_005273347.3:c.486T>A, XM_005273347.2:c.486T>A, XM_005273347.1:c.486T>A, XM_005273346.3:c.657T>A, XM_005273346.2:c.657T>A, XM_005273346.1:c.657T>A, NM_001300755.2:c.345T>A, NM_001300755.1:c.345T>A, XM_017002774.2:c.657T>A, XM_017002774.1:c.657T>A, NM_001300753.2:c.345T>A, NM_001300753.1:c.345T>A, XM_005273345.2:c.657T>A, XM_005273345.1:c.657T>A, XM_005273344.2:c.657T>A, XM_005273344.1:c.657T>A, NM_001300757.2:c.216T>A, NM_001300757.1:c.216T>A, NM_001300758.2:c.216T>A, NM_001300758.1:c.216T>A, NR_125333.2:n.593T>A, NR_125333.1:n.601T>A, XM_047433784.1:c.345T>A, XM_047433785.1:c.723T>A, NP_653168.2:p.Cys241Ter, XP_005273404.1:p.Cys162Ter, XP_005273403.1:p.Cys219Ter, NP_001287684.1:p.Cys115Ter, XP_016858263.1:p.Cys219Ter, NP_001287682.1:p.Cys115Ter, XP_005273402.1:p.Cys219Ter, XP_005273401.1:p.Cys219Ter, NP_001287686.1:p.Cys72Ter, NP_001287687.1:p.Cys72Ter, XP_047289740.1:p.Cys115Ter, XP_047289741.1:p.Cys241Ter

                        12.

                        rs1465151073 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:213008408 (GRCh38)
                          1:213181750 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:213008407:G:A
                          Gene:
                          ANGEL2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                          HGVS:

                          13.

                          rs1463620551 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            1:213000357 (GRCh38)
                            1:213173699 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:213000356:T:A
                            Gene:
                            ANGEL2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,stop_gained,3_prime_UTR_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.213000357T>A, NC_000001.10:g.213173699T>A, NM_144567.5:c.1288A>T, NM_144567.4:c.1288A>T, NM_144567.3:c.1288A>T, XM_005273347.4:c.1051A>T, XM_005273347.3:c.1051A>T, XM_005273347.2:c.1051A>T, XM_005273347.1:c.1051A>T, XM_005273346.3:c.1222A>T, XM_005273346.2:c.1222A>T, XM_005273346.1:c.1222A>T, NM_001300755.2:c.910A>T, NM_001300755.1:c.910A>T, XM_017002774.2:c.1222A>T, XM_017002774.1:c.1222A>T, NM_001300753.2:c.910A>T, NM_001300753.1:c.910A>T, XM_005273345.2:c.1222A>T, XM_005273345.1:c.1222A>T, XM_005273344.2:c.1222A>T, XM_005273344.1:c.1222A>T, NM_001300757.2:c.781A>T, NM_001300757.1:c.781A>T, NM_001300758.2:c.781A>T, NM_001300758.1:c.781A>T, NR_125333.2:n.1031A>T, NR_125333.1:n.1039A>T, XM_047433784.1:c.910A>T, XM_047433785.1:c.*15A>T, NP_653168.2:p.Lys430Ter, XP_005273404.1:p.Lys351Ter, XP_005273403.1:p.Lys408Ter, NP_001287684.1:p.Lys304Ter, XP_016858263.1:p.Lys408Ter, NP_001287682.1:p.Lys304Ter, XP_005273402.1:p.Lys408Ter, XP_005273401.1:p.Lys408Ter, NP_001287686.1:p.Lys261Ter, NP_001287687.1:p.Lys261Ter, XP_047289740.1:p.Lys304Ter

                            14.

                            rs1462514320 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              1:212995049 (GRCh38)
                              1:213168391 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:212995048:C:A
                              Gene:
                              ANGEL2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.212995049C>A, NC_000001.10:g.213168391C>A, NM_144567.5:c.1627G>T, NM_144567.4:c.1627G>T, NM_144567.3:c.1627G>T, XM_005273347.4:c.1390G>T, XM_005273347.3:c.1390G>T, XM_005273347.2:c.1390G>T, XM_005273347.1:c.1390G>T, XM_005273346.3:c.1561G>T, XM_005273346.2:c.1561G>T, XM_005273346.1:c.1561G>T, NM_001300755.2:c.1249G>T, NM_001300755.1:c.1249G>T, XM_017002774.2:c.1561G>T, XM_017002774.1:c.1561G>T, NM_001300753.2:c.1249G>T, NM_001300753.1:c.1249G>T, XM_005273345.2:c.1561G>T, XM_005273345.1:c.1561G>T, XM_005273344.2:c.1561G>T, XM_005273344.1:c.1561G>T, NM_001300757.2:c.1120G>T, NM_001300757.1:c.1120G>T, NM_001300758.2:c.1120G>T, NM_001300758.1:c.1120G>T, NR_125333.2:n.1370G>T, NR_125333.1:n.1378G>T, XM_047433784.1:c.1249G>T, NP_653168.2:p.Glu543Ter, XP_005273404.1:p.Glu464Ter, XP_005273403.1:p.Glu521Ter, NP_001287684.1:p.Glu417Ter, XP_016858263.1:p.Glu521Ter, NP_001287682.1:p.Glu417Ter, XP_005273402.1:p.Glu521Ter, XP_005273401.1:p.Glu521Ter, NP_001287686.1:p.Glu374Ter, NP_001287687.1:p.Glu374Ter, XP_047289740.1:p.Glu417Ter

                              15.

                              rs1461182991 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                1:213007197 (GRCh38)
                                1:213180539 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:213007196:A:C
                                Gene:
                                ANGEL2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000005/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.213007197A>C, NC_000001.10:g.213180539A>C, NM_144567.5:c.644T>G, NM_144567.4:c.644T>G, NM_144567.3:c.644T>G, XM_005273347.4:c.407T>G, XM_005273347.3:c.407T>G, XM_005273347.2:c.407T>G, XM_005273347.1:c.407T>G, XM_005273346.3:c.578T>G, XM_005273346.2:c.578T>G, XM_005273346.1:c.578T>G, NM_001300755.2:c.266T>G, NM_001300755.1:c.266T>G, XM_017002774.2:c.578T>G, XM_017002774.1:c.578T>G, NM_001300753.2:c.266T>G, NM_001300753.1:c.266T>G, XM_005273345.2:c.578T>G, XM_005273345.1:c.578T>G, XM_005273344.2:c.578T>G, XM_005273344.1:c.578T>G, NM_001300757.2:c.137T>G, NM_001300757.1:c.137T>G, NM_001300758.2:c.137T>G, NM_001300758.1:c.137T>G, NR_125333.2:n.514T>G, NR_125333.1:n.522T>G, XM_047433784.1:c.266T>G, XM_047433785.1:c.644T>G, NP_653168.2:p.Val215Gly, XP_005273404.1:p.Val136Gly, XP_005273403.1:p.Val193Gly, NP_001287684.1:p.Val89Gly, XP_016858263.1:p.Val193Gly, NP_001287682.1:p.Val89Gly, XP_005273402.1:p.Val193Gly, XP_005273401.1:p.Val193Gly, NP_001287686.1:p.Val46Gly, NP_001287687.1:p.Val46Gly, XP_047289740.1:p.Val89Gly, XP_047289741.1:p.Val215Gly

                                16.

                                rs1457513050 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  1:212997283 (GRCh38)
                                  1:213170625 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:212997282:G:C,NC_000001.11:212997282:G:T
                                  Gene:
                                  ANGEL2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,stop_gained,3_prime_UTR_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000094/1 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.212997283G>C, NC_000001.11:g.212997283G>T, NC_000001.10:g.213170625G>C, NC_000001.10:g.213170625G>T, NM_144567.5:c.1355C>G, NM_144567.5:c.1355C>A, NM_144567.4:c.1355C>G, NM_144567.4:c.1355C>A, NM_144567.3:c.1355C>G, NM_144567.3:c.1355C>A, XM_005273347.4:c.1118C>G, XM_005273347.4:c.1118C>A, XM_005273347.3:c.1118C>G, XM_005273347.3:c.1118C>A, XM_005273347.2:c.1118C>G, XM_005273347.2:c.1118C>A, XM_005273347.1:c.1118C>G, XM_005273347.1:c.1118C>A, XM_005273346.3:c.1289C>G, XM_005273346.3:c.1289C>A, XM_005273346.2:c.1289C>G, XM_005273346.2:c.1289C>A, XM_005273346.1:c.1289C>G, XM_005273346.1:c.1289C>A, NM_001300755.2:c.977C>G, NM_001300755.2:c.977C>A, NM_001300755.1:c.977C>G, NM_001300755.1:c.977C>A, XM_017002774.2:c.1289C>G, XM_017002774.2:c.1289C>A, XM_017002774.1:c.1289C>G, XM_017002774.1:c.1289C>A, NM_001300753.2:c.977C>G, NM_001300753.2:c.977C>A, NM_001300753.1:c.977C>G, NM_001300753.1:c.977C>A, XM_005273345.2:c.1289C>G, XM_005273345.2:c.1289C>A, XM_005273345.1:c.1289C>G, XM_005273345.1:c.1289C>A, XM_005273344.2:c.1289C>G, XM_005273344.2:c.1289C>A, XM_005273344.1:c.1289C>G, XM_005273344.1:c.1289C>A, NM_001300757.2:c.848C>G, NM_001300757.2:c.848C>A, NM_001300757.1:c.848C>G, NM_001300757.1:c.848C>A, NM_001300758.2:c.848C>G, NM_001300758.2:c.848C>A, NM_001300758.1:c.848C>G, NM_001300758.1:c.848C>A, NR_125333.2:n.1098C>G, NR_125333.2:n.1098C>A, NR_125333.1:n.1106C>G, NR_125333.1:n.1106C>A, XM_047433784.1:c.977C>G, XM_047433784.1:c.977C>A, XM_047433785.1:c.*82C>G, XM_047433785.1:c.*82C>A, NP_653168.2:p.Ser452Ter, NP_653168.2:p.Ser452Ter, XP_005273404.1:p.Ser373Ter, XP_005273404.1:p.Ser373Ter, XP_005273403.1:p.Ser430Ter, XP_005273403.1:p.Ser430Ter, NP_001287684.1:p.Ser326Ter, NP_001287684.1:p.Ser326Ter, XP_016858263.1:p.Ser430Ter, XP_016858263.1:p.Ser430Ter, NP_001287682.1:p.Ser326Ter, NP_001287682.1:p.Ser326Ter, XP_005273402.1:p.Ser430Ter, XP_005273402.1:p.Ser430Ter, XP_005273401.1:p.Ser430Ter, XP_005273401.1:p.Ser430Ter, NP_001287686.1:p.Ser283Ter, NP_001287686.1:p.Ser283Ter, NP_001287687.1:p.Ser283Ter, NP_001287687.1:p.Ser283Ter, XP_047289740.1:p.Ser326Ter, XP_047289740.1:p.Ser326Ter

                                  17.

                                  rs1457416636 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TCTAT>- [Show Flanks]
                                    Chromosome:
                                    1:213008288 (GRCh38)
                                    1:213181630 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:213008287:TCTAT:
                                    Gene:
                                    ANGEL2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    HGVS:
                                    NC_000001.11:g.213008288_213008292del, NC_000001.10:g.213181630_213181634del, NM_144567.5:c.560_564del, NM_144567.4:c.560_564del, NM_144567.3:c.560_564del, XM_005273347.4:c.323_327del, XM_005273347.3:c.323_327del, XM_005273347.2:c.323_327del, XM_005273347.1:c.323_327del, XM_005273346.3:c.494_498del, XM_005273346.2:c.494_498del, XM_005273346.1:c.494_498del, NM_001300755.2:c.182_186del, NM_001300755.1:c.182_186del, XM_017002774.2:c.494_498del, XM_017002774.1:c.494_498del, NM_001300753.2:c.182_186del, NM_001300753.1:c.182_186del, XM_005273345.2:c.494_498del, XM_005273345.1:c.494_498del, XM_005273344.2:c.494_498del, XM_005273344.1:c.494_498del, NM_001300757.2:c.53_57del, NM_001300757.1:c.53_57del, NM_001300758.2:c.53_57del, NM_001300758.1:c.53_57del, NR_125333.2:n.430_434del, NR_125333.1:n.438_442del, XM_047433784.1:c.182_186del, XM_047433785.1:c.560_564del, NP_653168.2:p.Tyr187fs, XP_005273404.1:p.Tyr108fs, XP_005273403.1:p.Tyr165fs, NP_001287684.1:p.Tyr61fs, XP_016858263.1:p.Tyr165fs, NP_001287682.1:p.Tyr61fs, XP_005273402.1:p.Tyr165fs, XP_005273401.1:p.Tyr165fs, NP_001287686.1:p.Tyr18fs, NP_001287687.1:p.Tyr18fs, XP_047289740.1:p.Tyr61fs, XP_047289741.1:p.Tyr187fs

                                    18.

                                    rs1457125672 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:213005432 (GRCh38)
                                      1:213178774 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:213005431:C:T
                                      Gene:
                                      ANGEL2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_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_000001.11:g.213005432C>T, NC_000001.10:g.213178774C>T, NM_144567.5:c.735G>A, NM_144567.4:c.735G>A, NM_144567.3:c.735G>A, XM_005273347.4:c.498G>A, XM_005273347.3:c.498G>A, XM_005273347.2:c.498G>A, XM_005273347.1:c.498G>A, XM_005273346.3:c.669G>A, XM_005273346.2:c.669G>A, XM_005273346.1:c.669G>A, NM_001300755.2:c.357G>A, NM_001300755.1:c.357G>A, XM_017002774.2:c.669G>A, XM_017002774.1:c.669G>A, NM_001300753.2:c.357G>A, NM_001300753.1:c.357G>A, XM_005273345.2:c.669G>A, XM_005273345.1:c.669G>A, XM_005273344.2:c.669G>A, XM_005273344.1:c.669G>A, NM_001300757.2:c.228G>A, NM_001300757.1:c.228G>A, NM_001300758.2:c.228G>A, NM_001300758.1:c.228G>A, NR_125333.2:n.605G>A, NR_125333.1:n.613G>A, XM_047433784.1:c.357G>A, XM_047433785.1:c.735G>A, NP_653168.2:p.Met245Ile, XP_005273404.1:p.Met166Ile, XP_005273403.1:p.Met223Ile, NP_001287684.1:p.Met119Ile, XP_016858263.1:p.Met223Ile, NP_001287682.1:p.Met119Ile, XP_005273402.1:p.Met223Ile, XP_005273401.1:p.Met223Ile, NP_001287686.1:p.Met76Ile, NP_001287687.1:p.Met76Ile, XP_047289740.1:p.Met119Ile, XP_047289741.1:p.Met245Ile

                                      19.

                                      rs1452204590 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        1:213000897 (GRCh38)
                                        1:213174239 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:213000896:G:C
                                        Gene:
                                        ANGEL2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_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_000001.11:g.213000897G>C, NC_000001.10:g.213174239G>C, NM_144567.5:c.1150C>G, NM_144567.4:c.1150C>G, NM_144567.3:c.1150C>G, XM_005273347.4:c.913C>G, XM_005273347.3:c.913C>G, XM_005273347.2:c.913C>G, XM_005273347.1:c.913C>G, XM_005273346.3:c.1084C>G, XM_005273346.2:c.1084C>G, XM_005273346.1:c.1084C>G, NM_001300755.2:c.772C>G, NM_001300755.1:c.772C>G, XM_017002774.2:c.1084C>G, XM_017002774.1:c.1084C>G, NM_001300753.2:c.772C>G, NM_001300753.1:c.772C>G, XM_005273345.2:c.1084C>G, XM_005273345.1:c.1084C>G, XM_005273344.2:c.1084C>G, XM_005273344.1:c.1084C>G, NM_001300757.2:c.643C>G, NM_001300757.1:c.643C>G, NM_001300758.2:c.643C>G, NM_001300758.1:c.643C>G, XM_047433784.1:c.772C>G, NP_653168.2:p.Gln384Glu, XP_005273404.1:p.Gln305Glu, XP_005273403.1:p.Gln362Glu, NP_001287684.1:p.Gln258Glu, XP_016858263.1:p.Gln362Glu, NP_001287682.1:p.Gln258Glu, XP_005273402.1:p.Gln362Glu, XP_005273401.1:p.Gln362Glu, NP_001287686.1:p.Gln215Glu, NP_001287687.1:p.Gln215Glu, XP_047289740.1:p.Gln258Glu

                                        20.

                                        rs1449794438 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CT>- [Show Flanks]
                                          Chromosome:
                                          1:213000348 (GRCh38)
                                          1:213173690 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:213000345:CTCT:CT
                                          Gene:
                                          ANGEL2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CTCT=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.213000346CT[1], NC_000001.10:g.213173688CT[1], NM_144567.5:c.1298_1299del, NM_144567.4:c.1298_1299del, NM_144567.3:c.1298_1299del, XM_005273347.4:c.1061_1062del, XM_005273347.3:c.1061_1062del, XM_005273347.2:c.1061_1062del, XM_005273347.1:c.1061_1062del, XM_005273346.3:c.1232_1233del, XM_005273346.2:c.1232_1233del, XM_005273346.1:c.1232_1233del, NM_001300755.2:c.920_921del, NM_001300755.1:c.920_921del, XM_017002774.2:c.1232_1233del, XM_017002774.1:c.1232_1233del, NM_001300753.2:c.920_921del, NM_001300753.1:c.920_921del, XM_005273345.2:c.1232_1233del, XM_005273345.1:c.1232_1233del, XM_005273344.2:c.1232_1233del, XM_005273344.1:c.1232_1233del, NM_001300757.2:c.791_792del, NM_001300757.1:c.791_792del, NM_001300758.2:c.791_792del, NM_001300758.1:c.791_792del, NR_125333.2:n.1039AG[1], NR_125333.1:n.1047AG[1], XM_047433784.1:c.920_921del, XM_047433785.1:c.*23AG[1], NP_653168.2:p.Glu433fs, XP_005273404.1:p.Glu354fs, XP_005273403.1:p.Glu411fs, NP_001287684.1:p.Glu307fs, XP_016858263.1:p.Glu411fs, NP_001287682.1:p.Glu307fs, XP_005273402.1:p.Glu411fs, XP_005273401.1:p.Glu411fs, NP_001287686.1:p.Glu264fs, NP_001287687.1:p.Glu264fs, XP_047289740.1:p.Glu307fs

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