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 Protein

Items: 1 to 20 of 339

1.

rs1486308627 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:96751452 (GRCh38)
    1:97217008 (GRCh37)
    Canonical SPDI:
    NC_000001.11:96751451:A:G
    Gene:
    PTBP2 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.96751452A>G, NC_000001.10:g.97217008A>G, NM_021190.4:c.67A>G, NM_021190.3:c.67A>G, NM_021190.2:c.67A>G, XM_011541876.3:c.91A>G, XM_011541876.2:c.91A>G, XM_011541876.1:c.91A>G, XM_011541874.3:c.91A>G, XM_011541874.2:c.91A>G, XM_011541874.1:c.91A>G, XM_011541875.3:c.91A>G, NM_001300987.2:c.100A>G, NM_001300987.1:c.100A>G, XM_017001951.2:c.100A>G, XM_017001951.1:c.100A>G, NM_001300986.2:c.91A>G, NM_001300986.1:c.91A>G, NM_001300985.2:c.67A>G, NM_001300985.1:c.67A>G, NM_001300989.2:c.67A>G, NM_001300989.1:c.67A>G, NR_125357.2:n.148A>G, NR_125357.1:n.327A>G, NM_001300988.2:c.67A>G, NM_001300988.1:c.67A>G, XM_047426537.1:c.-27A>G, NR_125356.1:n.219A>G, NM_001410833.1:c.91A>G, XM_047426538.1:c.91A>G, XM_047426539.1:c.91A>G, NP_067013.1:p.Ser23Gly, XP_011540178.1:p.Ser31Gly, XP_011540176.1:p.Ser31Gly, XP_011540177.1:p.Ser31Gly, NP_001287916.1:p.Ser34Gly, XP_016857440.1:p.Ser34Gly, NP_001287915.1:p.Ser31Gly, NP_001287914.1:p.Ser23Gly, NP_001287918.1:p.Ser23Gly, NP_001287917.1:p.Ser23Gly, XP_047282494.1:p.Ser31Gly, XP_047282495.1:p.Ser31Gly

    2.

    rs1485447336 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:96812893 (GRCh38)
      1:97278449 (GRCh37)
      Canonical SPDI:
      NC_000001.11:96812892:T:C
      Gene:
      PTBP2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.000028/1 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1484005284 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:96777836 (GRCh38)
        1:97243392 (GRCh37)
        Canonical SPDI:
        NC_000001.11:96777835:A:G
        Gene:
        PTBP2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.96777836A>G, NC_000001.10:g.97243392A>G, NM_021190.4:c.598A>G, NM_021190.3:c.598A>G, NM_021190.2:c.598A>G, XM_011541876.3:c.622A>G, XM_011541876.2:c.622A>G, XM_011541876.1:c.622A>G, XM_011541874.3:c.622A>G, XM_011541874.2:c.622A>G, XM_011541874.1:c.622A>G, XM_011541875.3:c.622A>G, NM_001300987.2:c.631A>G, NM_001300987.1:c.631A>G, XM_017001951.2:c.631A>G, XM_017001951.1:c.631A>G, NM_001300986.2:c.622A>G, NM_001300986.1:c.622A>G, NM_001300985.2:c.598A>G, NM_001300985.1:c.598A>G, NM_001300989.2:c.598A>G, NM_001300989.1:c.598A>G, NR_125357.2:n.679A>G, NR_125357.1:n.858A>G, NM_001300990.2:c.442A>G, NM_001300990.1:c.442A>G, NM_001300988.2:c.598A>G, NM_001300988.1:c.598A>G, XM_047426537.1:c.505A>G, NR_125356.1:n.750A>G, NM_001410833.1:c.622A>G, XM_047426538.1:c.622A>G, XM_047426539.1:c.622A>G, NP_067013.1:p.Ile200Val, XP_011540178.1:p.Ile208Val, XP_011540176.1:p.Ile208Val, XP_011540177.1:p.Ile208Val, NP_001287916.1:p.Ile211Val, XP_016857440.1:p.Ile211Val, NP_001287915.1:p.Ile208Val, NP_001287914.1:p.Ile200Val, NP_001287918.1:p.Ile200Val, NP_001287919.1:p.Ile148Val, NP_001287917.1:p.Ile200Val, XP_047282493.1:p.Ile169Val, XP_047282494.1:p.Ile208Val, XP_047282495.1:p.Ile208Val

        4.

        rs1482947908 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:96777660 (GRCh38)
          1:97243216 (GRCh37)
          Canonical SPDI:
          NC_000001.11:96777659:G:A
          Gene:
          PTBP2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_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.96777660G>A, NC_000001.10:g.97243216G>A, NM_021190.4:c.508G>A, NM_021190.3:c.508G>A, NM_021190.2:c.508G>A, XM_011541876.3:c.532G>A, XM_011541876.2:c.532G>A, XM_011541876.1:c.532G>A, XM_011541874.3:c.532G>A, XM_011541874.2:c.532G>A, XM_011541874.1:c.532G>A, XM_011541875.3:c.532G>A, NM_001300987.2:c.541G>A, NM_001300987.1:c.541G>A, XM_017001951.2:c.541G>A, XM_017001951.1:c.541G>A, NM_001300986.2:c.532G>A, NM_001300986.1:c.532G>A, NM_001300985.2:c.508G>A, NM_001300985.1:c.508G>A, NM_001300989.2:c.508G>A, NM_001300989.1:c.508G>A, NR_125357.2:n.589G>A, NR_125357.1:n.768G>A, NM_001300990.2:c.352G>A, NM_001300990.1:c.352G>A, NM_001300988.2:c.508G>A, NM_001300988.1:c.508G>A, XM_047426537.1:c.415G>A, NR_125356.1:n.660G>A, NM_001410833.1:c.532G>A, XM_047426538.1:c.532G>A, XM_047426539.1:c.532G>A, NP_067013.1:p.Glu170Lys, XP_011540178.1:p.Glu178Lys, XP_011540176.1:p.Glu178Lys, XP_011540177.1:p.Glu178Lys, NP_001287916.1:p.Glu181Lys, XP_016857440.1:p.Glu181Lys, NP_001287915.1:p.Glu178Lys, NP_001287914.1:p.Glu170Lys, NP_001287918.1:p.Glu170Lys, NP_001287919.1:p.Glu118Lys, NP_001287917.1:p.Glu170Lys, XP_047282493.1:p.Glu139Lys, XP_047282494.1:p.Glu178Lys, XP_047282495.1:p.Glu178Lys

          5.

          rs1482796244 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:96813349 (GRCh38)
            1:97278905 (GRCh37)
            Canonical SPDI:
            NC_000001.11:96813348:T:C
            Gene:
            PTBP2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            HGVS:
            NC_000001.11:g.96813349T>C, NC_000001.10:g.97278905T>C, NM_021190.4:c.1540T>C, NM_021190.3:c.1540T>C, NM_021190.2:c.1540T>C, XM_011541876.3:c.1582T>C, XM_011541876.2:c.1582T>C, XM_011541876.1:c.1582T>C, XM_011541874.3:c.1579T>C, XM_011541874.2:c.1579T>C, XM_011541874.1:c.1579T>C, XM_011541875.3:c.1564T>C, NM_001300987.2:c.1591T>C, NM_001300987.1:c.1591T>C, XM_017001951.2:c.1591T>C, XM_017001951.1:c.1591T>C, NM_001300986.2:c.1567T>C, NM_001300986.1:c.1567T>C, NM_001300985.2:c.1558T>C, NM_001300985.1:c.1558T>C, NM_001300989.2:c.1543T>C, NM_001300989.1:c.1543T>C, NR_125357.2:n.1590T>C, NR_125357.1:n.1769T>C, NM_001300990.2:c.1387T>C, NM_001300990.1:c.1387T>C, NM_001300988.2:c.1555T>C, NM_001300988.1:c.1555T>C, XM_047426537.1:c.1465T>C, NR_125356.1:n.1658T>C, NM_001410833.1:c.1564T>C, NP_067013.1:p.Tyr514His, XP_011540178.1:p.Tyr528His, XP_011540176.1:p.Tyr527His, XP_011540177.1:p.Tyr522His, NP_001287916.1:p.Tyr531His, XP_016857440.1:p.Tyr531His, NP_001287915.1:p.Tyr523His, NP_001287914.1:p.Tyr520His, NP_001287918.1:p.Tyr515His, NP_001287919.1:p.Tyr463His, NP_001287917.1:p.Tyr519His, XP_047282493.1:p.Tyr489His

            6.

            rs1482718967 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:96785196 (GRCh38)
              1:97250752 (GRCh37)
              Canonical SPDI:
              NC_000001.11:96785195:A:G
              Gene:
              PTBP2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,synonymous_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.96785196A>G, NC_000001.10:g.97250752A>G, NM_021190.4:c.846A>G, NM_021190.3:c.846A>G, NM_021190.2:c.846A>G, XM_011541876.3:c.870A>G, XM_011541876.2:c.870A>G, XM_011541876.1:c.870A>G, XM_011541874.3:c.870A>G, XM_011541874.2:c.870A>G, XM_011541874.1:c.870A>G, XM_011541875.3:c.870A>G, NM_001300987.2:c.879A>G, NM_001300987.1:c.879A>G, XM_017001951.2:c.879A>G, XM_017001951.1:c.879A>G, NM_001300986.2:c.870A>G, NM_001300986.1:c.870A>G, NM_001300985.2:c.846A>G, NM_001300985.1:c.846A>G, NM_001300989.2:c.846A>G, NM_001300989.1:c.846A>G, NR_125357.2:n.927A>G, NR_125357.1:n.1106A>G, NM_001300990.2:c.690A>G, NM_001300990.1:c.690A>G, NM_001300988.2:c.846A>G, NM_001300988.1:c.846A>G, XM_047426537.1:c.753A>G, NR_125356.1:n.998A>G, NM_001410833.1:c.870A>G, XM_047426538.1:c.870A>G, XM_047426539.1:c.870A>G

              7.

              rs1481337392 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:96769712 (GRCh38)
                1:97235268 (GRCh37)
                Canonical SPDI:
                NC_000001.11:96769711:A:G
                Gene:
                PTBP2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.96769712A>G, NC_000001.10:g.97235268A>G, NM_021190.4:c.125A>G, NM_021190.3:c.125A>G, NM_021190.2:c.125A>G, XM_011541876.3:c.149A>G, XM_011541876.2:c.149A>G, XM_011541876.1:c.149A>G, XM_011541874.3:c.149A>G, XM_011541874.2:c.149A>G, XM_011541874.1:c.149A>G, XM_011541875.3:c.149A>G, NM_001300987.2:c.158A>G, NM_001300987.1:c.158A>G, XM_017001951.2:c.158A>G, XM_017001951.1:c.158A>G, NM_001300986.2:c.149A>G, NM_001300986.1:c.149A>G, NM_001300985.2:c.125A>G, NM_001300985.1:c.125A>G, NM_001300989.2:c.125A>G, NM_001300989.1:c.125A>G, NR_125357.2:n.206A>G, NR_125357.1:n.385A>G, NM_001300990.2:c.-32A>G, NM_001300990.1:c.-32A>G, NM_001300988.2:c.125A>G, NM_001300988.1:c.125A>G, XM_047426537.1:c.32A>G, NR_125356.1:n.277A>G, NM_001410833.1:c.149A>G, XM_047426538.1:c.149A>G, XM_047426539.1:c.149A>G, NP_067013.1:p.Asn42Ser, XP_011540178.1:p.Asn50Ser, XP_011540176.1:p.Asn50Ser, XP_011540177.1:p.Asn50Ser, NP_001287916.1:p.Asn53Ser, XP_016857440.1:p.Asn53Ser, NP_001287915.1:p.Asn50Ser, NP_001287914.1:p.Asn42Ser, NP_001287918.1:p.Asn42Ser, NP_001287917.1:p.Asn42Ser, XP_047282493.1:p.Asn11Ser, XP_047282494.1:p.Asn50Ser, XP_047282495.1:p.Asn50Ser

                8.

                rs1477551831 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  1:96785186 (GRCh38)
                  1:97250742 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:96785185:C:G
                  Gene:
                  PTBP2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.96785186C>G, NC_000001.10:g.97250742C>G, NM_021190.4:c.836C>G, NM_021190.3:c.836C>G, NM_021190.2:c.836C>G, XM_011541876.3:c.860C>G, XM_011541876.2:c.860C>G, XM_011541876.1:c.860C>G, XM_011541874.3:c.860C>G, XM_011541874.2:c.860C>G, XM_011541874.1:c.860C>G, XM_011541875.3:c.860C>G, NM_001300987.2:c.869C>G, NM_001300987.1:c.869C>G, XM_017001951.2:c.869C>G, XM_017001951.1:c.869C>G, NM_001300986.2:c.860C>G, NM_001300986.1:c.860C>G, NM_001300985.2:c.836C>G, NM_001300985.1:c.836C>G, NM_001300989.2:c.836C>G, NM_001300989.1:c.836C>G, NR_125357.2:n.917C>G, NR_125357.1:n.1096C>G, NM_001300990.2:c.680C>G, NM_001300990.1:c.680C>G, NM_001300988.2:c.836C>G, NM_001300988.1:c.836C>G, XM_047426537.1:c.743C>G, NR_125356.1:n.988C>G, NM_001410833.1:c.860C>G, XM_047426538.1:c.860C>G, XM_047426539.1:c.860C>G, NP_067013.1:p.Ser279Cys, XP_011540178.1:p.Ser287Cys, XP_011540176.1:p.Ser287Cys, XP_011540177.1:p.Ser287Cys, NP_001287916.1:p.Ser290Cys, XP_016857440.1:p.Ser290Cys, NP_001287915.1:p.Ser287Cys, NP_001287914.1:p.Ser279Cys, NP_001287918.1:p.Ser279Cys, NP_001287919.1:p.Ser227Cys, NP_001287917.1:p.Ser279Cys, XP_047282493.1:p.Ser248Cys, XP_047282494.1:p.Ser287Cys, XP_047282495.1:p.Ser287Cys

                  9.

                  rs1473399974 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:96812743 (GRCh38)
                    1:97278299 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:96812742:T:C
                    Gene:
                    PTBP2 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1472873269 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      1:96770721 (GRCh38)
                      1:97236277 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:96770720:T:G
                      Gene:
                      PTBP2 (Varview)
                      Functional Consequence:
                      missense_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.96770721T>G, NC_000001.10:g.97236277T>G, NM_021190.4:c.302T>G, NM_021190.3:c.302T>G, NM_021190.2:c.302T>G, XM_011541876.3:c.326T>G, XM_011541876.2:c.326T>G, XM_011541876.1:c.326T>G, XM_011541874.3:c.326T>G, XM_011541874.2:c.326T>G, XM_011541874.1:c.326T>G, XM_011541875.3:c.326T>G, NM_001300987.2:c.335T>G, NM_001300987.1:c.335T>G, XM_017001951.2:c.335T>G, XM_017001951.1:c.335T>G, NM_001300986.2:c.326T>G, NM_001300986.1:c.326T>G, NM_001300985.2:c.302T>G, NM_001300985.1:c.302T>G, NM_001300989.2:c.302T>G, NM_001300989.1:c.302T>G, NR_125357.2:n.383T>G, NR_125357.1:n.562T>G, NM_001300990.2:c.146T>G, NM_001300990.1:c.146T>G, NM_001300988.2:c.302T>G, NM_001300988.1:c.302T>G, XM_047426537.1:c.209T>G, NR_125356.1:n.454T>G, NM_001410833.1:c.326T>G, XM_047426538.1:c.326T>G, XM_047426539.1:c.326T>G, NP_067013.1:p.Leu101Arg, XP_011540178.1:p.Leu109Arg, XP_011540176.1:p.Leu109Arg, XP_011540177.1:p.Leu109Arg, NP_001287916.1:p.Leu112Arg, XP_016857440.1:p.Leu112Arg, NP_001287915.1:p.Leu109Arg, NP_001287914.1:p.Leu101Arg, NP_001287918.1:p.Leu101Arg, NP_001287919.1:p.Leu49Arg, NP_001287917.1:p.Leu101Arg, XP_047282493.1:p.Leu70Arg, XP_047282494.1:p.Leu109Arg, XP_047282495.1:p.Leu109Arg

                      11.

                      rs1468944905 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:96813307 (GRCh38)
                        1:97278863 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:96813306:A:G
                        Gene:
                        PTBP2 (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.96813307A>G, NC_000001.10:g.97278863A>G, NM_021190.4:c.1498A>G, NM_021190.3:c.1498A>G, NM_021190.2:c.1498A>G, XM_011541876.3:c.1540A>G, XM_011541876.2:c.1540A>G, XM_011541876.1:c.1540A>G, XM_011541874.3:c.1537A>G, XM_011541874.2:c.1537A>G, XM_011541874.1:c.1537A>G, XM_011541875.3:c.1522A>G, NM_001300987.2:c.1549A>G, NM_001300987.1:c.1549A>G, XM_017001951.2:c.1549A>G, XM_017001951.1:c.1549A>G, NM_001300986.2:c.1525A>G, NM_001300986.1:c.1525A>G, NM_001300985.2:c.1516A>G, NM_001300985.1:c.1516A>G, NM_001300989.2:c.1501A>G, NM_001300989.1:c.1501A>G, NR_125357.2:n.1548A>G, NR_125357.1:n.1727A>G, NM_001300990.2:c.1345A>G, NM_001300990.1:c.1345A>G, NM_001300988.2:c.1513A>G, NM_001300988.1:c.1513A>G, XM_047426537.1:c.1423A>G, NR_125356.1:n.1616A>G, NM_001410833.1:c.1522A>G, NP_067013.1:p.Thr500Ala, XP_011540178.1:p.Thr514Ala, XP_011540176.1:p.Thr513Ala, XP_011540177.1:p.Thr508Ala, NP_001287916.1:p.Thr517Ala, XP_016857440.1:p.Thr517Ala, NP_001287915.1:p.Thr509Ala, NP_001287914.1:p.Thr506Ala, NP_001287918.1:p.Thr501Ala, NP_001287919.1:p.Thr449Ala, NP_001287917.1:p.Thr505Ala, XP_047282493.1:p.Thr475Ala

                        12.

                        rs1468626502 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:96749669 (GRCh38)
                          1:97215225 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:96749668:T:C
                          Gene:
                          PTBP2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/1 (GnomAD_exomes)
                          C=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1462439365 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:96770793 (GRCh38)
                            1:97236349 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:96770792:C:T
                            Gene:
                            PTBP2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.96770793C>T, NC_000001.10:g.97236349C>T, NM_021190.4:c.374C>T, NM_021190.3:c.374C>T, NM_021190.2:c.374C>T, XM_011541876.3:c.398C>T, XM_011541876.2:c.398C>T, XM_011541876.1:c.398C>T, XM_011541874.3:c.398C>T, XM_011541874.2:c.398C>T, XM_011541874.1:c.398C>T, XM_011541875.3:c.398C>T, NM_001300987.2:c.407C>T, NM_001300987.1:c.407C>T, XM_017001951.2:c.407C>T, XM_017001951.1:c.407C>T, NM_001300986.2:c.398C>T, NM_001300986.1:c.398C>T, NM_001300985.2:c.374C>T, NM_001300985.1:c.374C>T, NM_001300989.2:c.374C>T, NM_001300989.1:c.374C>T, NR_125357.2:n.455C>T, NR_125357.1:n.634C>T, NM_001300990.2:c.218C>T, NM_001300990.1:c.218C>T, NM_001300988.2:c.374C>T, NM_001300988.1:c.374C>T, XM_047426537.1:c.281C>T, NR_125356.1:n.526C>T, NM_001410833.1:c.398C>T, XM_047426538.1:c.398C>T, XM_047426539.1:c.398C>T, NP_067013.1:p.Pro125Leu, XP_011540178.1:p.Pro133Leu, XP_011540176.1:p.Pro133Leu, XP_011540177.1:p.Pro133Leu, NP_001287916.1:p.Pro136Leu, XP_016857440.1:p.Pro136Leu, NP_001287915.1:p.Pro133Leu, NP_001287914.1:p.Pro125Leu, NP_001287918.1:p.Pro125Leu, NP_001287919.1:p.Pro73Leu, NP_001287917.1:p.Pro125Leu, XP_047282493.1:p.Pro94Leu, XP_047282494.1:p.Pro133Leu, XP_047282495.1:p.Pro133Leu

                            14.

                            rs1462397530 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:96749626 (GRCh38)
                              1:97215182 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:96749625:C:T
                              Gene:
                              PTBP2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000008/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1461714967 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:96813039 (GRCh38)
                                1:97278595 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:96813038:G:A
                                Gene:
                                PTBP2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_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.96813039G>A, NC_000001.10:g.97278595G>A, NM_021190.4:c.1399G>A, NM_021190.3:c.1399G>A, NM_021190.2:c.1399G>A, XM_011541876.3:c.1438G>A, XM_011541876.2:c.1438G>A, XM_011541876.1:c.1438G>A, XM_011541874.3:c.1438G>A, XM_011541874.2:c.1438G>A, XM_011541874.1:c.1438G>A, XM_011541875.3:c.1423G>A, NM_001300987.2:c.1447G>A, NM_001300987.1:c.1447G>A, XM_017001951.2:c.1447G>A, XM_017001951.1:c.1447G>A, NM_001300986.2:c.1423G>A, NM_001300986.1:c.1423G>A, NM_001300985.2:c.1414G>A, NM_001300985.1:c.1414G>A, NM_001300989.2:c.1399G>A, NM_001300989.1:c.1399G>A, NR_125357.2:n.1446G>A, NR_125357.1:n.1625G>A, NM_001300990.2:c.1243G>A, NM_001300990.1:c.1243G>A, NM_001300988.2:c.1414G>A, NM_001300988.1:c.1414G>A, XM_047426537.1:c.1321G>A, NR_125356.1:n.1517G>A, NM_001410833.1:c.1423G>A, NP_067013.1:p.Ala467Thr, XP_011540178.1:p.Ala480Thr, XP_011540176.1:p.Ala480Thr, XP_011540177.1:p.Ala475Thr, NP_001287916.1:p.Ala483Thr, XP_016857440.1:p.Ala483Thr, NP_001287915.1:p.Ala475Thr, NP_001287914.1:p.Ala472Thr, NP_001287918.1:p.Ala467Thr, NP_001287919.1:p.Ala415Thr, NP_001287917.1:p.Ala472Thr, XP_047282493.1:p.Ala441Thr

                                16.

                                rs1459609926 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  1:96804861 (GRCh38)
                                  1:97270417 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:96804860:T:A
                                  Gene:
                                  PTBP2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.96804861T>A, NC_000001.10:g.97270417T>A, NM_021190.4:c.966T>A, NM_021190.3:c.966T>A, NM_021190.2:c.966T>A, XM_011541876.3:c.1005T>A, XM_011541876.2:c.1005T>A, XM_011541876.1:c.1005T>A, XM_011541874.3:c.1005T>A, XM_011541874.2:c.1005T>A, XM_011541874.1:c.1005T>A, XM_011541875.3:c.990T>A, NM_001300987.2:c.1014T>A, NM_001300987.1:c.1014T>A, XM_017001951.2:c.1014T>A, XM_017001951.1:c.1014T>A, NM_001300986.2:c.990T>A, NM_001300986.1:c.990T>A, NM_001300985.2:c.981T>A, NM_001300985.1:c.981T>A, NM_001300989.2:c.966T>A, NM_001300989.1:c.966T>A, NR_125357.2:n.1047T>A, NR_125357.1:n.1226T>A, NM_001300990.2:c.810T>A, NM_001300990.1:c.810T>A, NM_001300988.2:c.981T>A, NM_001300988.1:c.981T>A, XM_047426537.1:c.888T>A, NR_125356.1:n.1118T>A, NM_001410833.1:c.990T>A, XM_047426538.1:c.1005T>A, XM_047426539.1:c.990T>A

                                  17.

                                  rs1456574036 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:96777710 (GRCh38)
                                    1:97243266 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:96777709:C:T
                                    Gene:
                                    PTBP2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.96777710C>T, NC_000001.10:g.97243266C>T, NM_021190.4:c.558C>T, NM_021190.3:c.558C>T, NM_021190.2:c.558C>T, XM_011541876.3:c.582C>T, XM_011541876.2:c.582C>T, XM_011541876.1:c.582C>T, XM_011541874.3:c.582C>T, XM_011541874.2:c.582C>T, XM_011541874.1:c.582C>T, XM_011541875.3:c.582C>T, NM_001300987.2:c.591C>T, NM_001300987.1:c.591C>T, XM_017001951.2:c.591C>T, XM_017001951.1:c.591C>T, NM_001300986.2:c.582C>T, NM_001300986.1:c.582C>T, NM_001300985.2:c.558C>T, NM_001300985.1:c.558C>T, NM_001300989.2:c.558C>T, NM_001300989.1:c.558C>T, NR_125357.2:n.639C>T, NR_125357.1:n.818C>T, NM_001300990.2:c.402C>T, NM_001300990.1:c.402C>T, NM_001300988.2:c.558C>T, NM_001300988.1:c.558C>T, XM_047426537.1:c.465C>T, NR_125356.1:n.710C>T, NM_001410833.1:c.582C>T, XM_047426538.1:c.582C>T, XM_047426539.1:c.582C>T

                                    18.

                                    rs1455946540 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:96777595 (GRCh38)
                                      1:97243151 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:96777594:C:T
                                      Gene:
                                      PTBP2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.96777595C>T, NC_000001.10:g.97243151C>T, NM_021190.4:c.443C>T, NM_021190.3:c.443C>T, NM_021190.2:c.443C>T, XM_011541876.3:c.467C>T, XM_011541876.2:c.467C>T, XM_011541876.1:c.467C>T, XM_011541874.3:c.467C>T, XM_011541874.2:c.467C>T, XM_011541874.1:c.467C>T, XM_011541875.3:c.467C>T, NM_001300987.2:c.476C>T, NM_001300987.1:c.476C>T, XM_017001951.2:c.476C>T, XM_017001951.1:c.476C>T, NM_001300986.2:c.467C>T, NM_001300986.1:c.467C>T, NM_001300985.2:c.443C>T, NM_001300985.1:c.443C>T, NM_001300989.2:c.443C>T, NM_001300989.1:c.443C>T, NR_125357.2:n.524C>T, NR_125357.1:n.703C>T, NM_001300990.2:c.287C>T, NM_001300990.1:c.287C>T, NM_001300988.2:c.443C>T, NM_001300988.1:c.443C>T, XM_047426537.1:c.350C>T, NR_125356.1:n.595C>T, NM_001410833.1:c.467C>T, XM_047426538.1:c.467C>T, XM_047426539.1:c.467C>T, NP_067013.1:p.Ala148Val, XP_011540178.1:p.Ala156Val, XP_011540176.1:p.Ala156Val, XP_011540177.1:p.Ala156Val, NP_001287916.1:p.Ala159Val, XP_016857440.1:p.Ala159Val, NP_001287915.1:p.Ala156Val, NP_001287914.1:p.Ala148Val, NP_001287918.1:p.Ala148Val, NP_001287919.1:p.Ala96Val, NP_001287917.1:p.Ala148Val, XP_047282493.1:p.Ala117Val, XP_047282494.1:p.Ala156Val, XP_047282495.1:p.Ala156Val

                                      19.

                                      rs1454900580 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        1:96751490 (GRCh38)
                                        1:97217046 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:96751489:G:C
                                        Gene:
                                        PTBP2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.96751490G>C, NC_000001.10:g.97217046G>C, NM_021190.4:c.105G>C, NM_021190.3:c.105G>C, NM_021190.2:c.105G>C, XM_011541876.3:c.129G>C, XM_011541876.2:c.129G>C, XM_011541876.1:c.129G>C, XM_011541874.3:c.129G>C, XM_011541874.2:c.129G>C, XM_011541874.1:c.129G>C, XM_011541875.3:c.129G>C, NM_001300987.2:c.138G>C, NM_001300987.1:c.138G>C, XM_017001951.2:c.138G>C, XM_017001951.1:c.138G>C, NM_001300986.2:c.129G>C, NM_001300986.1:c.129G>C, NM_001300985.2:c.105G>C, NM_001300985.1:c.105G>C, NM_001300989.2:c.105G>C, NM_001300989.1:c.105G>C, NR_125357.2:n.186G>C, NR_125357.1:n.365G>C, NM_001300988.2:c.105G>C, NM_001300988.1:c.105G>C, XM_047426537.1:c.12G>C, NR_125356.1:n.257G>C, NM_001410833.1:c.129G>C, XM_047426538.1:c.129G>C, XM_047426539.1:c.129G>C, NP_067013.1:p.Met35Ile, XP_011540178.1:p.Met43Ile, XP_011540176.1:p.Met43Ile, XP_011540177.1:p.Met43Ile, NP_001287916.1:p.Met46Ile, XP_016857440.1:p.Met46Ile, NP_001287915.1:p.Met43Ile, NP_001287914.1:p.Met35Ile, NP_001287918.1:p.Met35Ile, NP_001287917.1:p.Met35Ile, XP_047282493.1:p.Met4Ile, XP_047282494.1:p.Met43Ile, XP_047282495.1:p.Met43Ile

                                        20.

                                        rs1451814976 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          1:96785162 (GRCh38)
                                          1:97250718 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:96785161:A:C
                                          Gene:
                                          PTBP2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.96785162A>C, NC_000001.10:g.97250718A>C, NM_021190.4:c.812A>C, NM_021190.3:c.812A>C, NM_021190.2:c.812A>C, XM_011541876.3:c.836A>C, XM_011541876.2:c.836A>C, XM_011541876.1:c.836A>C, XM_011541874.3:c.836A>C, XM_011541874.2:c.836A>C, XM_011541874.1:c.836A>C, XM_011541875.3:c.836A>C, NM_001300987.2:c.845A>C, NM_001300987.1:c.845A>C, XM_017001951.2:c.845A>C, XM_017001951.1:c.845A>C, NM_001300986.2:c.836A>C, NM_001300986.1:c.836A>C, NM_001300985.2:c.812A>C, NM_001300985.1:c.812A>C, NM_001300989.2:c.812A>C, NM_001300989.1:c.812A>C, NR_125357.2:n.893A>C, NR_125357.1:n.1072A>C, NM_001300990.2:c.656A>C, NM_001300990.1:c.656A>C, NM_001300988.2:c.812A>C, NM_001300988.1:c.812A>C, XM_047426537.1:c.719A>C, NR_125356.1:n.964A>C, NM_001410833.1:c.836A>C, XM_047426538.1:c.836A>C, XM_047426539.1:c.836A>C, NP_067013.1:p.Asp271Ala, XP_011540178.1:p.Asp279Ala, XP_011540176.1:p.Asp279Ala, XP_011540177.1:p.Asp279Ala, NP_001287916.1:p.Asp282Ala, XP_016857440.1:p.Asp282Ala, NP_001287915.1:p.Asp279Ala, NP_001287914.1:p.Asp271Ala, NP_001287918.1:p.Asp271Ala, NP_001287919.1:p.Asp219Ala, NP_001287917.1:p.Asp271Ala, XP_047282493.1:p.Asp240Ala, XP_047282494.1:p.Asp279Ala, XP_047282495.1:p.Asp279Ala

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...