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Links from Protein

Items: 1 to 20 of 256

3.

rs1463949371 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    2:175114018 (GRCh38)
    2:175978746 (GRCh37)
    Canonical SPDI:
    NC_000002.12:175114017:A:C,NC_000002.12:175114017:A:G
    Gene:
    ATF2 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000002.12:g.175114018A>C, NC_000002.12:g.175114018A>G, NC_000002.11:g.175978746A>C, NC_000002.11:g.175978746A>G, NG_047045.1:g.59189T>G, NG_047045.1:g.59189T>C, NM_001880.4:c.717T>G, NM_001880.4:c.717T>C, NM_001880.3:c.717T>G, NM_001880.3:c.717T>C, NR_045769.2:n.1048T>G, NR_045769.2:n.1048T>C, NR_045769.1:n.1051T>G, NR_045769.1:n.1051T>C, NR_045768.2:n.1048T>G, NR_045768.2:n.1048T>C, NR_045768.1:n.1051T>G, NR_045768.1:n.1051T>C, NR_045771.2:n.1013T>G, NR_045771.2:n.1013T>C, NR_045771.1:n.1016T>G, NR_045771.1:n.1016T>C, NM_001256090.2:c.717T>G, NM_001256090.2:c.717T>C, NM_001256090.1:c.717T>G, NM_001256090.1:c.717T>C, NR_045772.2:n.951T>G, NR_045772.2:n.951T>C, NR_045772.1:n.954T>G, NR_045772.1:n.954T>C, NR_045773.2:n.916T>G, NR_045773.2:n.916T>C, NR_045773.1:n.919T>G, NR_045773.1:n.919T>C, NM_001256091.2:c.663T>G, NM_001256091.2:c.663T>C, NM_001256091.1:c.663T>G, NM_001256091.1:c.663T>C, NM_001256093.2:c.543T>G, NM_001256093.2:c.543T>C, NM_001256093.1:c.543T>G, NM_001256093.1:c.543T>C, NM_001256092.2:c.543T>G, NM_001256092.2:c.543T>C, NM_001256092.1:c.543T>G, NM_001256092.1:c.543T>C, NP_001871.2:p.Asn239Lys, NP_001243019.1:p.Asn239Lys, NP_001243020.1:p.Asn221Lys, NP_001243022.1:p.Asn181Lys, NP_001243021.1:p.Asn181Lys
    12.

    rs1438315912 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C,T [Show Flanks]
      Chromosome:
      2:175114037 (GRCh38)
      2:175978765 (GRCh37)
      Canonical SPDI:
      NC_000002.12:175114036:G:C,NC_000002.12:175114036:G:T
      Gene:
      ATF2 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_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)
      HGVS:
      NC_000002.12:g.175114037G>C, NC_000002.12:g.175114037G>T, NC_000002.11:g.175978765G>C, NC_000002.11:g.175978765G>T, NG_047045.1:g.59170C>G, NG_047045.1:g.59170C>A, NM_001880.4:c.698C>G, NM_001880.4:c.698C>A, NM_001880.3:c.698C>G, NM_001880.3:c.698C>A, NR_045769.2:n.1029C>G, NR_045769.2:n.1029C>A, NR_045769.1:n.1032C>G, NR_045769.1:n.1032C>A, NR_045768.2:n.1029C>G, NR_045768.2:n.1029C>A, NR_045768.1:n.1032C>G, NR_045768.1:n.1032C>A, NR_045771.2:n.994C>G, NR_045771.2:n.994C>A, NR_045771.1:n.997C>G, NR_045771.1:n.997C>A, NM_001256090.2:c.698C>G, NM_001256090.2:c.698C>A, NM_001256090.1:c.698C>G, NM_001256090.1:c.698C>A, NR_045772.2:n.932C>G, NR_045772.2:n.932C>A, NR_045772.1:n.935C>G, NR_045772.1:n.935C>A, NR_045773.2:n.897C>G, NR_045773.2:n.897C>A, NR_045773.1:n.900C>G, NR_045773.1:n.900C>A, NM_001256091.2:c.644C>G, NM_001256091.2:c.644C>A, NM_001256091.1:c.644C>G, NM_001256091.1:c.644C>A, NM_001256093.2:c.524C>G, NM_001256093.2:c.524C>A, NM_001256093.1:c.524C>G, NM_001256093.1:c.524C>A, NM_001256092.2:c.524C>G, NM_001256092.2:c.524C>A, NM_001256092.1:c.524C>G, NM_001256092.1:c.524C>A, NP_001871.2:p.Ala233Gly, NP_001871.2:p.Ala233Glu, NP_001243019.1:p.Ala233Gly, NP_001243019.1:p.Ala233Glu, NP_001243020.1:p.Ala215Gly, NP_001243020.1:p.Ala215Glu, NP_001243022.1:p.Ala175Gly, NP_001243022.1:p.Ala175Glu, NP_001243021.1:p.Ala175Gly, NP_001243021.1:p.Ala175Glu
      16.
      17.
      20.

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