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 Gene

Items: 1 to 20 of 32345

1.

rs1491584952 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AC,ACTC,ACTCGCGCGCAC [Show Flanks]
    Chromosome:
    2:213124236 (GRCh38)
    2:213988961 (GRCh37)
    Canonical SPDI:
    NC_000002.12:213124236:C:CAC,NC_000002.12:213124236:C:CACTC,NC_000002.12:213124236:C:CACTCGCGCGCAC
    Gene:
    IKZF2 (Varview)
    Functional Consequence:
    intron_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CACTC=0./0 (ALFA)
    CACT=0.04013/24 (NorthernSweden)
    CACT=0.05002/221 (Estonian)
    CACT=0.17144/311 (Korea1K)
    HGVS:
    2.

    rs1491581938 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      2:213145188 (GRCh38)
      2:214009913 (GRCh37)
      Canonical SPDI:
      NC_000002.12:213145188::G
      Gene:
      IKZF2 (Varview)
      Functional Consequence:
      intron_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491557723 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->A,G,T [Show Flanks]
        Chromosome:
        2:213149778 (GRCh38)
        2:214014503 (GRCh37)
        Canonical SPDI:
        NC_000002.12:213149778::A,NC_000002.12:213149778::G,NC_000002.12:213149778::T
        Gene:
        IKZF2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        A=0.000213/20 (GnomAD)
        HGVS:
        4.

        rs1491528478 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA [Show Flanks]
          Chromosome:
          2:213147686 (GRCh38)
          2:214012410 (GRCh37)
          Canonical SPDI:
          NC_000002.12:213147679:AAAAAAAAA:AAAAAA,NC_000002.12:213147679:AAAAAAAAA:AAAAAAA,NC_000002.12:213147679:AAAAAAAAA:AAAAAAAA,NC_000002.12:213147679:AAAAAAAAA:AAAAAAAAAA
          Gene:
          IKZF2 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAA=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          -=0.02238/41 (Korea1K)
          -=0.025/1 (GENOME_DK)
          -=0.288423/31422 (ExAC)
          HGVS:
          NC_000002.12:g.213147686_213147688del, NC_000002.12:g.213147687_213147688del, NC_000002.12:g.213147688del, NC_000002.12:g.213147688dup, NC_000002.11:g.214012410_214012412del, NC_000002.11:g.214012411_214012412del, NC_000002.11:g.214012412del, NC_000002.11:g.214012412dup, XM_011510818.4:c.-49826_-49824del, XM_011510818.4:c.-49825_-49824del, XM_011510818.4:c.-49824del, XM_011510818.4:c.-49824dup, XM_011510816.4:c.-145_-143del, XM_011510816.4:c.-144_-143del, XM_011510816.4:c.-143del, XM_011510816.4:c.-143dup, XM_011510816.3:c.-145_-143del, XM_011510816.3:c.-144_-143del, XM_011510816.3:c.-143del, XM_011510816.3:c.-143dup, XM_011510816.2:c.-145_-143del, XM_011510816.2:c.-144_-143del, XM_011510816.2:c.-143del, XM_011510816.2:c.-143dup, XM_047443726.1:c.-145_-143del, XM_047443726.1:c.-144_-143del, XM_047443726.1:c.-143del, XM_047443726.1:c.-143dup
          5.

          rs1491522714 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            TT>-
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491483507 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AG>- [Show Flanks]
              Chromosome:
              2:213150702 (GRCh38)
              2:214015426 (GRCh37)
              Canonical SPDI:
              NC_000002.12:213150701:AG:
              Gene:
              IKZF2 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1491478259 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->GG,TG [Show Flanks]
                Chromosome:
                2:213124241 (GRCh38)
                2:213988966 (GRCh37)
                Canonical SPDI:
                NC_000002.12:213124241:G:GGG,NC_000002.12:213124241:G:GTG
                Gene:
                IKZF2 (Varview)
                Functional Consequence:
                intron_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GTG=0./0 (ALFA)
                GT=0.00138/6 (Estonian)
                HGVS:
                8.

                rs1491473302 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GC>-,GCGC,GCGCGCGC [Show Flanks]
                  Chromosome:
                  2:213124238 (GRCh38)
                  2:213988962 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:213124235:GCGC:GC,NC_000002.12:213124235:GCGC:GCGCGC,NC_000002.12:213124235:GCGC:GCGCGCGCGC
                  Gene:
                  IKZF2 (Varview)
                  Functional Consequence:
                  intron_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GCGCGC=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491454918 has merged into rs112304660 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
                    Chromosome:
                    2:213149786 (GRCh38)
                    2:214014510 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCC,NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCCC,NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCCCCC,NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000002.12:213149777:CCCCCCCCCC:CCCCCCCCCCCCCC
                    Gene:
                    IKZF2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CCCCCCCCCCCC=0./0 (ALFA)
                    -=0.0601/1007 (TOMMO)
                    -=0.07541/138 (Korea1K)
                    HGVS:
                    10.

                    rs1491436939 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TT>- [Show Flanks]
                      Chromosome:
                      2:213060320 (GRCh38)
                      2:213925044 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:213060319:TT:
                      Gene:
                      IKZF2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0.000783/11 (ALFA)
                      -=0.000106/2 (TOMMO)
                      -=0.000156/1 (1000Genomes)
                      -=0.000775/108 (GnomAD)
                      -=0.000892/236 (TOPMED)
                      HGVS:
                      11.

                      rs1491364420 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AT>- [Show Flanks]
                        Chromosome:
                        2:213010671 (GRCh38)
                        2:213875395 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:213010670:AT:
                        Gene:
                        IKZF2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0.000071/1 (ALFA)
                        -=0.000186/26 (GnomAD)
                        -=0.000227/60 (TOPMED)
                        HGVS:
                        12.

                        rs1491364309 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          2:213139557 (GRCh38)
                          2:214004281 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:213139556:AT:
                          Gene:
                          IKZF2 (Varview)
                          Functional Consequence:
                          intron_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0.000071/1 (ALFA)
                          -=0.000048/6 (GnomAD)
                          HGVS:
                          13.

                          rs1491364063 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CC>- [Show Flanks]
                            Chromosome:
                            2:213046051 (GRCh38)
                            2:213910775 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:213046049:CCC:C
                            Gene:
                            IKZF2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.00147/24 (ALFA)
                            -=0.00273/5 (Korea1K)
                            HGVS:
                            14.

                            rs1491309749 has merged into rs369935563 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              2:213008126 (GRCh38)
                              2:213872850 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:213008112:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              IKZF2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAAAA=0./0 (ALFA)
                              -=0.2/8 (GENOME_DK)
                              HGVS:
                              15.

                              rs1491297044 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                2:213149787 (GRCh38)
                                2:214014511 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:213149786:CA:
                                Gene:
                                IKZF2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.000084/1 (ALFA)
                                -=0.000126/15 (GnomAD)
                                HGVS:
                                16.

                                rs1491279213 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->ACGGCGA [Show Flanks]
                                  Chromosome:
                                  2:213033075 (GRCh38)
                                  2:213897800 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:213033075::ACGGCGA
                                  Gene:
                                  IKZF2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  ACGGCGA=0.0029/13 (ALFA)
                                  HGVS:
                                  17.

                                  rs1491267844 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->GC [Show Flanks]
                                    Chromosome:
                                    2:213139572 (GRCh38)
                                    2:214004297 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:213139572:GC:GCGC
                                    Gene:
                                    IKZF2 (Varview)
                                    Functional Consequence:
                                    intron_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GCGC=0.000071/1 (ALFA)
                                    GC=0.000036/5 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491265213 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      ->CGCCG
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:
                                      19.

                                      rs1491255990 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        TG>- [Show Flanks]
                                        Chromosome:
                                        2:213124235 (GRCh38)
                                        2:213988959 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:213124234:TG:
                                        Gene:
                                        IKZF2 (Varview)
                                        Functional Consequence:
                                        intron_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1491252148 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CA>- [Show Flanks]
                                          Chromosome:
                                          2:213136048 (GRCh38)
                                          2:214000772 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:213136047:CA:
                                          Gene:
                                          IKZF2 (Varview)
                                          Functional Consequence:
                                          intron_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0./0 (ALFA)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...