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Items: 1 to 20 of 2590

1.

rs1491468547 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    4:105236983 (GRCh38)
    4:106158140 (GRCh37)
    Canonical SPDI:
    NC_000004.12:105236982:CA:
    Gene:
    TET2 (Varview), TET2-AS1 (Varview)
    Functional Consequence:
    intron_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000004.12:g.105236983_105236984del, NC_000004.11:g.106158140_106158141del, NG_028191.1:g.96109_96110del, NM_017628.4:c.3041_3042del, NM_001127208.3:c.3041_3042del, NM_001127208.2:c.3041_3042del, XM_005263082.4:c.3041_3042del, XM_005263082.3:c.3041_3042del, XM_005263082.2:c.3041_3042del, XM_005263082.1:c.3041_3042del, XM_006714242.4:c.3041_3042del, XM_006714242.3:c.3041_3042del, XM_006714242.2:c.3041_3042del, XM_006714242.1:c.3041_3042del, XM_024454102.2:c.3041_3042del, XM_024454102.1:c.3041_3042del, XM_024454103.2:c.3041_3042del, XM_024454103.1:c.3041_3042del, XM_017008319.2:c.3041_3042del, XM_017008319.1:c.3041_3042del, XM_047415843.1:c.3041_3042del, XR_007057933.1:n.3337_3338del, XM_047415839.1:c.3041_3042del, XM_047415840.1:c.3041_3042del, XM_047415841.1:c.3041_3042del, XM_047415842.1:c.3041_3042del, NP_060098.3:p.Ala1014fs, NP_001120680.1:p.Ala1014fs, XP_005263139.1:p.Ala1014fs, XP_006714305.1:p.Ala1014fs, XP_024309870.1:p.Ala1014fs, XP_024309871.1:p.Ala1014fs, XP_016863808.1:p.Ala1014fs, XP_047271799.1:p.Ala1014fs, XP_047271795.1:p.Ala1014fs, XP_047271796.1:p.Ala1014fs, XP_047271797.1:p.Ala1014fs, XP_047271798.1:p.Ala1014fs
    2.

    rs1491192957 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      4:105235434 (GRCh38)
      4:106156591 (GRCh37)
      Canonical SPDI:
      NC_000004.12:105235432:TGT:T
      Gene:
      TET2 (Varview), TET2-AS1 (Varview)
      Functional Consequence:
      intron_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.000008/1 (ExAC)
      HGVS:
      NC_000004.12:g.105235434_105235435del, NC_000004.11:g.106156591_106156592del, NG_028191.1:g.94560_94561del, NM_017628.4:c.1492_1493del, NM_001127208.3:c.1492_1493del, NM_001127208.2:c.1492_1493del, XM_005263082.4:c.1492_1493del, XM_005263082.3:c.1492_1493del, XM_005263082.2:c.1492_1493del, XM_005263082.1:c.1492_1493del, XM_006714242.4:c.1492_1493del, XM_006714242.3:c.1492_1493del, XM_006714242.2:c.1492_1493del, XM_006714242.1:c.1492_1493del, XM_024454102.2:c.1492_1493del, XM_024454102.1:c.1492_1493del, XM_024454103.2:c.1492_1493del, XM_024454103.1:c.1492_1493del, XM_017008319.2:c.1492_1493del, XM_017008319.1:c.1492_1493del, XM_047415843.1:c.1492_1493del, XR_007057933.1:n.1788_1789del, XM_047415839.1:c.1492_1493del, XM_047415840.1:c.1492_1493del, XM_047415841.1:c.1492_1493del, XM_047415842.1:c.1492_1493del, NP_060098.3:p.Val498fs, NP_001120680.1:p.Val498fs, XP_005263139.1:p.Val498fs, XP_006714305.1:p.Val498fs, XP_024309870.1:p.Val498fs, XP_024309871.1:p.Val498fs, XP_016863808.1:p.Val498fs, XP_047271799.1:p.Val498fs, XP_047271795.1:p.Val498fs, XP_047271796.1:p.Val498fs, XP_047271797.1:p.Val498fs, XP_047271798.1:p.Val498fs
      3.

      rs1491180062 has merged into rs11284258 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        4:105241949 (GRCh38)
        4:106163106 (GRCh37)
        Canonical SPDI:
        NC_000004.12:105241938:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:105241938:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:105241938:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:105241938:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:105241938:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:105241938:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:105241938:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:105241938:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        TET2 (Varview), TET2-AS1 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTT=0./0 (ALFA)
        T=0.0178/89 (1000Genomes)
        -=0.4/16 (GENOME_DK)
        HGVS:
        NC_000004.12:g.105241949_105241953del, NC_000004.12:g.105241950_105241953del, NC_000004.12:g.105241951_105241953del, NC_000004.12:g.105241952_105241953del, NC_000004.12:g.105241953del, NC_000004.12:g.105241953dup, NC_000004.12:g.105241952_105241953dup, NC_000004.12:g.105241943_105241953dup, NC_000004.11:g.106163106_106163110del, NC_000004.11:g.106163107_106163110del, NC_000004.11:g.106163108_106163110del, NC_000004.11:g.106163109_106163110del, NC_000004.11:g.106163110del, NC_000004.11:g.106163110dup, NC_000004.11:g.106163109_106163110dup, NC_000004.11:g.106163100_106163110dup, NG_028191.1:g.101075_101079del, NG_028191.1:g.101076_101079del, NG_028191.1:g.101077_101079del, NG_028191.1:g.101078_101079del, NG_028191.1:g.101079del, NG_028191.1:g.101079dup, NG_028191.1:g.101078_101079dup, NG_028191.1:g.101069_101079dup, NM_017628.4:c.*4509_*4513del, NM_017628.4:c.*4510_*4513del, NM_017628.4:c.*4511_*4513del, NM_017628.4:c.*4512_*4513del, NM_017628.4:c.*4513del, NM_017628.4:c.*4513dup, NM_017628.4:c.*4512_*4513dup, NM_017628.4:c.*4503_*4513dup, XR_007057933.1:n.4316_4320del, XR_007057933.1:n.4317_4320del, XR_007057933.1:n.4318_4320del, XR_007057933.1:n.4319_4320del, XR_007057933.1:n.4320del, XR_007057933.1:n.4320dup, XR_007057933.1:n.4319_4320dup, XR_007057933.1:n.4310_4320dup
        4.

        rs1490973147 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          4:105234797 (GRCh38)
          4:106155954 (GRCh37)
          Canonical SPDI:
          NC_000004.12:105234796:T:A,NC_000004.12:105234796:T:C
          Gene:
          TET2 (Varview), TET2-AS1 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by cluster
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000004.12:g.105234797T>A, NC_000004.12:g.105234797T>C, NC_000004.11:g.106155954T>A, NC_000004.11:g.106155954T>C, NG_028191.1:g.93923T>A, NG_028191.1:g.93923T>C, NM_017628.4:c.855T>A, NM_017628.4:c.855T>C, NM_001127208.3:c.855T>A, NM_001127208.3:c.855T>C, NM_001127208.2:c.855T>A, NM_001127208.2:c.855T>C, XM_005263082.4:c.855T>A, XM_005263082.4:c.855T>C, XM_005263082.3:c.855T>A, XM_005263082.3:c.855T>C, XM_005263082.2:c.855T>A, XM_005263082.2:c.855T>C, XM_005263082.1:c.855T>A, XM_005263082.1:c.855T>C, XM_006714242.4:c.855T>A, XM_006714242.4:c.855T>C, XM_006714242.3:c.855T>A, XM_006714242.3:c.855T>C, XM_006714242.2:c.855T>A, XM_006714242.2:c.855T>C, XM_006714242.1:c.855T>A, XM_006714242.1:c.855T>C, XM_024454102.2:c.855T>A, XM_024454102.2:c.855T>C, XM_024454102.1:c.855T>A, XM_024454102.1:c.855T>C, XM_024454103.2:c.855T>A, XM_024454103.2:c.855T>C, XM_024454103.1:c.855T>A, XM_024454103.1:c.855T>C, XM_017008319.2:c.855T>A, XM_017008319.2:c.855T>C, XM_017008319.1:c.855T>A, XM_017008319.1:c.855T>C, XM_047415843.1:c.855T>A, XM_047415843.1:c.855T>C, XR_007057933.1:n.1151T>A, XR_007057933.1:n.1151T>C, XM_047415839.1:c.855T>A, XM_047415839.1:c.855T>C, XM_047415840.1:c.855T>A, XM_047415840.1:c.855T>C, XM_047415841.1:c.855T>A, XM_047415841.1:c.855T>C, XM_047415842.1:c.855T>A, XM_047415842.1:c.855T>C
          6.

          rs1490473531 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            4:105235098 (GRCh38)
            4:106156255 (GRCh37)
            Canonical SPDI:
            NC_000004.12:105235097:G:C,NC_000004.12:105235097:G:T
            Gene:
            TET2 (Varview), TET2-AS1 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            T=0.000007/1 (GnomAD)
            T=0.001203/20 (TOMMO)
            HGVS:
            NC_000004.12:g.105235098G>C, NC_000004.12:g.105235098G>T, NC_000004.11:g.106156255G>C, NC_000004.11:g.106156255G>T, NG_028191.1:g.94224G>C, NG_028191.1:g.94224G>T, NM_017628.4:c.1156G>C, NM_017628.4:c.1156G>T, NM_001127208.3:c.1156G>C, NM_001127208.3:c.1156G>T, NM_001127208.2:c.1156G>C, NM_001127208.2:c.1156G>T, XM_005263082.4:c.1156G>C, XM_005263082.4:c.1156G>T, XM_005263082.3:c.1156G>C, XM_005263082.3:c.1156G>T, XM_005263082.2:c.1156G>C, XM_005263082.2:c.1156G>T, XM_005263082.1:c.1156G>C, XM_005263082.1:c.1156G>T, XM_006714242.4:c.1156G>C, XM_006714242.4:c.1156G>T, XM_006714242.3:c.1156G>C, XM_006714242.3:c.1156G>T, XM_006714242.2:c.1156G>C, XM_006714242.2:c.1156G>T, XM_006714242.1:c.1156G>C, XM_006714242.1:c.1156G>T, XM_024454102.2:c.1156G>C, XM_024454102.2:c.1156G>T, XM_024454102.1:c.1156G>C, XM_024454102.1:c.1156G>T, XM_024454103.2:c.1156G>C, XM_024454103.2:c.1156G>T, XM_024454103.1:c.1156G>C, XM_024454103.1:c.1156G>T, XM_017008319.2:c.1156G>C, XM_017008319.2:c.1156G>T, XM_017008319.1:c.1156G>C, XM_017008319.1:c.1156G>T, XM_047415843.1:c.1156G>C, XM_047415843.1:c.1156G>T, XR_007057933.1:n.1452G>C, XR_007057933.1:n.1452G>T, XM_047415839.1:c.1156G>C, XM_047415839.1:c.1156G>T, XM_047415840.1:c.1156G>C, XM_047415840.1:c.1156G>T, XM_047415841.1:c.1156G>C, XM_047415841.1:c.1156G>T, XM_047415842.1:c.1156G>C, XM_047415842.1:c.1156G>T, NP_060098.3:p.Val386Leu, NP_060098.3:p.Val386Leu, NP_001120680.1:p.Val386Leu, NP_001120680.1:p.Val386Leu, XP_005263139.1:p.Val386Leu, XP_005263139.1:p.Val386Leu, XP_006714305.1:p.Val386Leu, XP_006714305.1:p.Val386Leu, XP_024309870.1:p.Val386Leu, XP_024309870.1:p.Val386Leu, XP_024309871.1:p.Val386Leu, XP_024309871.1:p.Val386Leu, XP_016863808.1:p.Val386Leu, XP_016863808.1:p.Val386Leu, XP_047271799.1:p.Val386Leu, XP_047271799.1:p.Val386Leu, XP_047271795.1:p.Val386Leu, XP_047271795.1:p.Val386Leu, XP_047271796.1:p.Val386Leu, XP_047271796.1:p.Val386Leu, XP_047271797.1:p.Val386Leu, XP_047271797.1:p.Val386Leu, XP_047271798.1:p.Val386Leu, XP_047271798.1:p.Val386Leu
            8.

            rs1489707828 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              4:105241040 (GRCh38)
              4:106162197 (GRCh37)
              Canonical SPDI:
              NC_000004.12:105241039:C:A
              Gene:
              TET2 (Varview), TET2-AS1 (Varview)
              Functional Consequence:
              intron_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              9.

              rs1489618946 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CAACTAAGTTTT [Show Flanks]
                Chromosome:
                4:105238467 (GRCh38)
                4:106159625 (GRCh37)
                Canonical SPDI:
                NC_000004.12:105238467:TCAACTAAGTTTT:TCAACTAAGTTTTCAACTAAGTTTT
                Gene:
                TET2 (Varview), TET2-AS1 (Varview)
                Functional Consequence:
                intron_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                TCAACTAAGTTTTCAACTAAGTTTT=0./0 (ALFA)
                TCAACTAAGTTT=0.000008/2 (TOPMED)
                HGVS:
                11.

                rs1488544481 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  4:105145979 (GRCh38)
                  4:106067136 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:105145978:G:A,NC_000004.12:105145978:G:T
                  Gene:
                  TET2 (Varview), LOC124900868 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  A=0.000007/1 (GnomAD)
                  T=0.000023/6 (TOPMED)
                  HGVS:
                  12.

                  rs1487183091 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:105241660 (GRCh38)
                    4:106162817 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:105241659:A:G
                    Gene:
                    TET2 (Varview), TET2-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    15.

                    rs1486759680 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:105241452 (GRCh38)
                      4:106162609 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:105241451:G:A
                      Gene:
                      TET2 (Varview), TET2-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000015/4 (TOPMED)
                      A=0.000036/5 (GnomAD)
                      HGVS:
                      16.

                      rs1486522061 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        4:105146067 (GRCh38)
                        4:106067224 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:105146066:A:G
                        Gene:
                        TET2 (Varview), LOC124900868 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        17.

                        rs1485937043 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          4:105235910 (GRCh38)
                          4:106157067 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:105235909:C:G,NC_000004.12:105235909:C:T
                          Gene:
                          TET2 (Varview), TET2-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          NC_000004.12:g.105235910C>G, NC_000004.12:g.105235910C>T, NC_000004.11:g.106157067C>G, NC_000004.11:g.106157067C>T, NG_028191.1:g.95036C>G, NG_028191.1:g.95036C>T, NM_017628.4:c.1968C>G, NM_017628.4:c.1968C>T, NM_001127208.3:c.1968C>G, NM_001127208.3:c.1968C>T, NM_001127208.2:c.1968C>G, NM_001127208.2:c.1968C>T, XM_005263082.4:c.1968C>G, XM_005263082.4:c.1968C>T, XM_005263082.3:c.1968C>G, XM_005263082.3:c.1968C>T, XM_005263082.2:c.1968C>G, XM_005263082.2:c.1968C>T, XM_005263082.1:c.1968C>G, XM_005263082.1:c.1968C>T, XM_006714242.4:c.1968C>G, XM_006714242.4:c.1968C>T, XM_006714242.3:c.1968C>G, XM_006714242.3:c.1968C>T, XM_006714242.2:c.1968C>G, XM_006714242.2:c.1968C>T, XM_006714242.1:c.1968C>G, XM_006714242.1:c.1968C>T, XM_024454102.2:c.1968C>G, XM_024454102.2:c.1968C>T, XM_024454102.1:c.1968C>G, XM_024454102.1:c.1968C>T, XM_024454103.2:c.1968C>G, XM_024454103.2:c.1968C>T, XM_024454103.1:c.1968C>G, XM_024454103.1:c.1968C>T, XM_017008319.2:c.1968C>G, XM_017008319.2:c.1968C>T, XM_017008319.1:c.1968C>G, XM_017008319.1:c.1968C>T, XM_047415843.1:c.1968C>G, XM_047415843.1:c.1968C>T, XR_007057933.1:n.2264C>G, XR_007057933.1:n.2264C>T, XM_047415839.1:c.1968C>G, XM_047415839.1:c.1968C>T, XM_047415840.1:c.1968C>G, XM_047415840.1:c.1968C>T, XM_047415841.1:c.1968C>G, XM_047415841.1:c.1968C>T, XM_047415842.1:c.1968C>G, XM_047415842.1:c.1968C>T
                          18.

                          rs1485817170 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            4:105240629 (GRCh38)
                            4:106161786 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:105240628:A:C
                            Gene:
                            TET2 (Varview), TET2-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:

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