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Links from Protein

Items: 1 to 20 of 284

3.

rs1479072902 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    17:64003950 (GRCh38)
    17:62081310 (GRCh37)
    Canonical SPDI:
    NC_000017.11:64003949:C:A,NC_000017.11:64003949:C:T
    Gene:
    ICAM2 (Varview), PRR29 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000017.11:g.64003950C>A, NC_000017.11:g.64003950C>T, NC_000017.10:g.62081310C>A, NC_000017.10:g.62081310C>T, NM_000873.4:c.343G>T, NM_000873.4:c.343G>A, NM_000873.3:c.343G>T, NM_000873.3:c.343G>A, NM_001164257.2:c.*2189C>A, NM_001164257.2:c.*2189C>T, NM_001164257.1:c.*2189C>A, NM_001164257.1:c.*2189C>T, NM_001191030.2:c.*2189C>A, NM_001191030.2:c.*2189C>T, NM_001191030.1:c.*2189C>A, NM_001191030.1:c.*2189C>T, NM_001191029.2:c.*1975C>A, NM_001191029.2:c.*1975C>T, NM_001191029.1:c.*1975C>A, NM_001191029.1:c.*1975C>T, XM_011525469.2:c.*2189C>A, XM_011525469.2:c.*2189C>T, XM_011525469.1:c.*2189C>A, XM_011525469.1:c.*2189C>T, NM_001191031.2:c.*2235C>A, NM_001191031.2:c.*2235C>T, NM_001191031.1:c.*2235C>A, NM_001191031.1:c.*2235C>T, XM_017025315.2:c.*1975C>A, XM_017025315.2:c.*1975C>T, XM_017025315.1:c.*1975C>A, XM_017025315.1:c.*1975C>T, NM_001099786.2:c.343G>T, NM_001099786.2:c.343G>A, NM_001099786.1:c.343G>T, NM_001099786.1:c.343G>A, NM_001099787.2:c.343G>T, NM_001099787.2:c.343G>A, NM_001099787.1:c.343G>T, NM_001099787.1:c.343G>A, NM_001099788.2:c.343G>T, NM_001099788.2:c.343G>A, NM_001099788.1:c.343G>T, NM_001099788.1:c.343G>A, NM_001099789.2:c.343G>T, NM_001099789.2:c.343G>A, NM_001099789.1:c.343G>T, NM_001099789.1:c.343G>A, NP_000864.2:p.Val115Phe, NP_000864.2:p.Val115Ile, NP_001093256.1:p.Val115Phe, NP_001093256.1:p.Val115Ile, NP_001093257.1:p.Val115Phe, NP_001093257.1:p.Val115Ile, NP_001093258.1:p.Val115Phe, NP_001093258.1:p.Val115Ile, NP_001093259.1:p.Val115Phe, NP_001093259.1:p.Val115Ile
    7.
    8.

    rs1471611136 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      17:64005264 (GRCh38)
      17:62082624 (GRCh37)
      Canonical SPDI:
      NC_000017.11:64005263:C:A
      Gene:
      ICAM2 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      HGVS:
      10.

      rs1465425018 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:64006667 (GRCh38)
        17:62084027 (GRCh37)
        Canonical SPDI:
        NC_000017.11:64006666:G:A
        Gene:
        ICAM2 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        12.

        rs1463187215 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:64005123 (GRCh38)
          17:62082483 (GRCh37)
          Canonical SPDI:
          NC_000017.11:64005122:G:A
          Gene:
          ICAM2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          18.
          19.

          rs1439040314 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:64005181 (GRCh38)
            17:62082541 (GRCh37)
            Canonical SPDI:
            NC_000017.11:64005180:T:C
            Gene:
            ICAM2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000047/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            20.

            rs1436349218 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              17:64002825 (GRCh38)
              17:62080185 (GRCh37)
              Canonical SPDI:
              NC_000017.11:64002824:C:G,NC_000017.11:64002824:C:T
              Gene:
              ICAM2 (Varview), PRR29 (Varview)
              Functional Consequence:
              synonymous_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000017.11:g.64002825C>G, NC_000017.11:g.64002825C>T, NC_000017.10:g.62080185C>G, NC_000017.10:g.62080185C>T, NM_000873.4:c.750G>C, NM_000873.4:c.750G>A, NM_000873.3:c.750G>C, NM_000873.3:c.750G>A, NM_001164257.2:c.*1064C>G, NM_001164257.2:c.*1064C>T, NM_001164257.1:c.*1064C>G, NM_001164257.1:c.*1064C>T, NM_001191030.2:c.*1064C>G, NM_001191030.2:c.*1064C>T, NM_001191030.1:c.*1064C>G, NM_001191030.1:c.*1064C>T, NM_001191029.2:c.*850C>G, NM_001191029.2:c.*850C>T, NM_001191029.1:c.*850C>G, NM_001191029.1:c.*850C>T, XM_011525469.2:c.*1064C>G, XM_011525469.2:c.*1064C>T, XM_011525469.1:c.*1064C>G, XM_011525469.1:c.*1064C>T, NM_001191031.2:c.*1110C>G, NM_001191031.2:c.*1110C>T, NM_001191031.1:c.*1110C>G, NM_001191031.1:c.*1110C>T, XM_017025315.2:c.*850C>G, XM_017025315.2:c.*850C>T, XM_017025315.1:c.*850C>G, XM_017025315.1:c.*850C>T, NR_015354.2:n.1835C>G, NR_015354.2:n.1835C>T, NM_001099786.2:c.750G>C, NM_001099786.2:c.750G>A, NM_001099786.1:c.750G>C, NM_001099786.1:c.750G>A, NM_001099787.2:c.750G>C, NM_001099787.2:c.750G>A, NM_001099787.1:c.750G>C, NM_001099787.1:c.750G>A, NM_001099788.2:c.750G>C, NM_001099788.2:c.750G>A, NM_001099788.1:c.750G>C, NM_001099788.1:c.750G>A, NM_001099789.2:c.750G>C, NM_001099789.2:c.750G>A, NM_001099789.1:c.750G>C, NM_001099789.1:c.750G>A, NR_015354.1:n.1838C>G, NR_015354.1:n.1838C>T, NP_000864.2:p.Gln250His, NP_001093256.1:p.Gln250His, NP_001093257.1:p.Gln250His, NP_001093258.1:p.Gln250His, NP_001093259.1:p.Gln250His

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