dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1471375557
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr10:11321223 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
- C=0.000004 (1/249540, GnomAD_exome)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
CELF2 : Synonymous VariantCELF2-AS1 : Intron Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
Help
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 249540 | T=0.999996 | C=0.000004 |
| gnomAD - Exomes | European | Sub | 134810 | T=0.999993 | C=0.000007 |
| gnomAD - Exomes | Asian | Sub | 48580 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | American | Sub | 34528 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | African | Sub | 15486 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10072 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | Other | Sub | 6064 | T=1.0000 | C=0.0000 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.11321223T>C |
| GRCh37.p13 chr 10 | NC_000010.10:g.11363186T>C |
Gene: CELF2, CUGBP Elav-like family member 2
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CELF2 transcript variant 24 |
NM_001326337.2:c.1088-461… NM_001326337.2:c.1088-4613T>C |
N/A | Intron Variant |
| CELF2 transcript variant 1 | NM_001025076.2:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 1 | NP_001020247.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 4 | NM_001083591.1:c.1032T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 4 | NP_001077060.1:p.Asn344= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 34 | NM_001326347.1:c.1056T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 21 | NP_001313276.1:p.Asn352= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 15 | NM_001326328.2:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313257.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 10 | NM_001326323.2:c.1080T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 7 | NP_001313252.1:p.Asn360= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 28 | NM_001326341.2:c.1113T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 19 | NP_001313270.1:p.Asn371= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 14 | NM_001326327.2:c.1146T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 10 | NP_001313256.1:p.Asn382= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 13 | NM_001326326.2:c.1128T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 9 | NP_001313255.1:p.Asn376= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 22 | NM_001326335.2:c.1104T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 13 | NP_001313264.1:p.Asn368= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 25 | NM_001326338.2:c.759T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 16 | NP_001313267.1:p.Asn253= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 19 | NM_001326332.2:c.1092T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 3 | NP_001313261.1:p.Asn364= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 26 | NM_001326339.2:c.777T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 17 | NP_001313268.1:p.Asn259= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 30 | NM_001326343.2:c.1185T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 22 | NP_001313272.1:p.Asn395= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 23 | NM_001326336.2:c.1164T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 14 | NP_001313265.1:p.Asn388= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 29 | NM_001326342.2:c.1131T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 2 | NP_001313271.1:p.Asn377= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 8 | NM_001326320.2:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313249.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 9 | NM_001326321.2:c.1062T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 6 | NP_001313250.1:p.Asn354= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 6 | NM_001326318.2:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313247.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 11 | NM_001326324.2:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313253.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 3 | NM_001025077.3:c.1092T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 3 | NP_001020248.1:p.Asn364= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 5 | NM_001326317.2:c.1020T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 5 | NP_001313246.1:p.Asn340= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 27 | NM_001326340.2:c.1167T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 18 | NP_001313269.1:p.Asn389= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 20 | NM_001326333.2:c.426T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 12 | NP_001313262.1:p.Asn142= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 21 | NM_001326334.2:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313263.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 12 | NM_001326325.2:c.1185T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 8 | NP_001313254.1:p.Asn395= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 16 | NM_001326329.2:c.1020T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 5 | NP_001313258.1:p.Asn340= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 7 | NM_001326319.2:c.1092T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 23 | NP_001313248.1:p.Asn364= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 17 | NM_001326330.2:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313259.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 18 | NM_001326331.2:c.1110T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 11 | NP_001313260.1:p.Asn370= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 33 | NM_001326346.2:c.408T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 20 | NP_001313275.1:p.Asn136= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 31 | NM_001326344.2:c.1020T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 5 | NP_001313273.1:p.Asn340= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 36 | NM_001326349.2:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313278.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 2 | NM_006561.4:c.1131T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 2 | NP_006552.3:p.Asn377= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 32 | NM_001326345.2:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313274.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 35 | NM_001326348.2:c.1020T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 5 | NP_001313277.1:p.Asn340= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 40 | NM_001394518.1:c.1125T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 24 | NP_001381447.1:p.Asn375= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 37 | NM_001394502.1:c.1110T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 11 | NP_001381431.1:p.Asn370= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 39 | NM_001394517.1:c.1020T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 5 | NP_001381446.1:p.Asn340= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 38 | NM_001394513.1:c.1113T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 19 | NP_001381442.1:p.Asn371= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant 41 | NM_001394519.1:c.1125T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform 24 | NP_001381448.1:p.Asn375= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X8 |
XM_047424488.1:c.1016-461… XM_047424488.1:c.1016-4613T>C |
N/A | Intron Variant |
| CELF2 transcript variant X23 |
XM_047424506.1:c.1124-461… XM_047424506.1:c.1124-4613T>C |
N/A | Intron Variant |
| CELF2 transcript variant X24 |
XM_047424507.1:c.1109-461… XM_047424507.1:c.1109-4613T>C |
N/A | Intron Variant |
| CELF2 transcript variant X25 | XM_047424508.1:c. | N/A | Genic Downstream Transcript Variant |
| CELF2 transcript variant X1 | XM_047424482.1:c.1215T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X1 | XP_047280438.1:p.Asn405= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X2 | XM_047424483.1:c.1203T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X2 | XP_047280439.1:p.Asn401= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X3 | XM_024447776.2:c.1122T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X3 | XP_024303544.1:p.Asn374= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X4 | XM_047424484.1:c.1158T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X4 | XP_047280440.1:p.Asn386= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X5 | XM_047424485.1:c.1158T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X4 | XP_047280441.1:p.Asn386= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X6 | XM_047424486.1:c.1143T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X5 | XP_047280442.1:p.Asn381= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X7 | XM_047424487.1:c.1140T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X6 | XP_047280443.1:p.Asn380= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X9 | XM_047424489.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280445.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X10 | XM_047424490.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280446.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X11 | XM_047424491.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280447.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X12 | XM_047424492.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280448.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X13 | XM_047424493.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280449.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X14 | XM_047424494.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280450.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X15 | XM_047424495.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280451.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X16 | XM_047424496.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280452.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X17 | XM_047424498.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280454.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X18 | XM_047424499.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280455.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X28 | XM_047424500.1:c.1050T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280456.1:p.Asn350= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X29 | XM_047424501.1:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X9 | XP_047280457.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X19 | XM_047424502.1:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X9 | XP_047280458.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X20 | XM_047424503.1:c.1038T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X9 | XP_047280459.1:p.Asn346= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X21 | XM_047424504.1:c.1032T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X10 | XP_047280460.1:p.Asn344= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X22 | XM_047424505.1:c.1020T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X11 | XP_047280461.1:p.Asn340= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X26 | XM_047424509.1:c.789T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X15 | XP_047280465.1:p.Asn263= | N (Asn) > N (Asn) | Synonymous Variant |
| CELF2 transcript variant X27 | XM_047424510.1:c.438T>C | N [AAT] > N [AAC] | Coding Sequence Variant |
| CUGBP Elav-like family member 2 isoform X16 | XP_047280466.1:p.Asn146= | N (Asn) > N (Asn) | Synonymous Variant |
Gene: CELF2-AS1, CELF2 antisense RNA 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CELF2-AS1 transcript | NR_126062.1:n. | N/A | Intron Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | T= | C |
|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.11321223= | NC_000010.11:g.11321223T>C |
| GRCh37.p13 chr 10 | NC_000010.10:g.11363186= | NC_000010.10:g.11363186T>C |
| CELF2 transcript variant 2 | NM_006561.4:c.1131= | NM_006561.4:c.1131T>C |
| CELF2 transcript variant 2 | NM_006561.3:c.1131= | NM_006561.3:c.1131T>C |
| CELF2 transcript variant 3 | NM_001025077.3:c.1092= | NM_001025077.3:c.1092T>C |
| CELF2 transcript variant 3 | NM_001025077.2:c.1092= | NM_001025077.2:c.1092T>C |
| CELF2 transcript variant 17 | NM_001326330.2:c.1038= | NM_001326330.2:c.1038T>C |
| CELF2 transcript variant 17 | NM_001326330.1:c.1038= | NM_001326330.1:c.1038T>C |
| CELF2 transcript variant 30 | NM_001326343.2:c.1185= | NM_001326343.2:c.1185T>C |
| CELF2 transcript variant 30 | NM_001326343.1:c.1185= | NM_001326343.1:c.1185T>C |
| CELF2 transcript variant 16 | NM_001326329.2:c.1020= | NM_001326329.2:c.1020T>C |
| CELF2 transcript variant 16 | NM_001326329.1:c.1020= | NM_001326329.1:c.1020T>C |
| CELF2 transcript variant 27 | NM_001326340.2:c.1167= | NM_001326340.2:c.1167T>C |
| CELF2 transcript variant 27 | NM_001326340.1:c.1167= | NM_001326340.1:c.1167T>C |
| CELF2 transcript variant 21 | NM_001326334.2:c.1038= | NM_001326334.2:c.1038T>C |
| CELF2 transcript variant 21 | NM_001326334.1:c.1038= | NM_001326334.1:c.1038T>C |
| CELF2 transcript variant 29 | NM_001326342.2:c.1131= | NM_001326342.2:c.1131T>C |
| CELF2 transcript variant 29 | NM_001326342.1:c.1131= | NM_001326342.1:c.1131T>C |
| CELF2 transcript variant 36 | NM_001326349.2:c.1038= | NM_001326349.2:c.1038T>C |
| CELF2 transcript variant 36 | NM_001326349.1:c.1038= | NM_001326349.1:c.1038T>C |
| CELF2 transcript variant 7 | NM_001326319.2:c.1092= | NM_001326319.2:c.1092T>C |
| CELF2 transcript variant 7 | NM_001326319.1:c.1092= | NM_001326319.1:c.1092T>C |
| CELF2 transcript variant 23 | NM_001326336.2:c.1164= | NM_001326336.2:c.1164T>C |
| CELF2 transcript variant 23 | NM_001326336.1:c.1164= | NM_001326336.1:c.1164T>C |
| CELF2 transcript variant 26 | NM_001326339.2:c.777= | NM_001326339.2:c.777T>C |
| CELF2 transcript variant 26 | NM_001326339.1:c.777= | NM_001326339.1:c.777T>C |
| CELF2 transcript variant 25 | NM_001326338.2:c.759= | NM_001326338.2:c.759T>C |
| CELF2 transcript variant 25 | NM_001326338.1:c.759= | NM_001326338.1:c.759T>C |
| CELF2 transcript variant 9 | NM_001326321.2:c.1062= | NM_001326321.2:c.1062T>C |
| CELF2 transcript variant 9 | NM_001326321.1:c.1062= | NM_001326321.1:c.1062T>C |
| CELF2 transcript variant 6 | NM_001326318.2:c.1038= | NM_001326318.2:c.1038T>C |
| CELF2 transcript variant 6 | NM_001326318.1:c.1038= | NM_001326318.1:c.1038T>C |
| CELF2 transcript variant 5 | NM_001326317.2:c.1020= | NM_001326317.2:c.1020T>C |
| CELF2 transcript variant 5 | NM_001326317.1:c.1020= | NM_001326317.1:c.1020T>C |
| CELF2 transcript variant 20 | NM_001326333.2:c.426= | NM_001326333.2:c.426T>C |
| CELF2 transcript variant 20 | NM_001326333.1:c.426= | NM_001326333.1:c.426T>C |
| CELF2 transcript variant 1 | NM_001025076.2:c.1038= | NM_001025076.2:c.1038T>C |
| CELF2 transcript variant 28 | NM_001326341.2:c.1113= | NM_001326341.2:c.1113T>C |
| CELF2 transcript variant 28 | NM_001326341.1:c.1113= | NM_001326341.1:c.1113T>C |
| CELF2 transcript variant 10 | NM_001326323.2:c.1080= | NM_001326323.2:c.1080T>C |
| CELF2 transcript variant 10 | NM_001326323.1:c.1080= | NM_001326323.1:c.1080T>C |
| CELF2 transcript variant 15 | NM_001326328.2:c.1038= | NM_001326328.2:c.1038T>C |
| CELF2 transcript variant 15 | NM_001326328.1:c.1038= | NM_001326328.1:c.1038T>C |
| CELF2 transcript variant 8 | NM_001326320.2:c.1038= | NM_001326320.2:c.1038T>C |
| CELF2 transcript variant 8 | NM_001326320.1:c.1038= | NM_001326320.1:c.1038T>C |
| CELF2 transcript variant 35 | NM_001326348.2:c.1020= | NM_001326348.2:c.1020T>C |
| CELF2 transcript variant 35 | NM_001326348.1:c.1020= | NM_001326348.1:c.1020T>C |
| CELF2 transcript variant 12 | NM_001326325.2:c.1185= | NM_001326325.2:c.1185T>C |
| CELF2 transcript variant 12 | NM_001326325.1:c.1185= | NM_001326325.1:c.1185T>C |
| CELF2 transcript variant X3 | XM_024447776.2:c.1122= | XM_024447776.2:c.1122T>C |
| CELF2 transcript variant X9 | XM_024447776.1:c.1122= | XM_024447776.1:c.1122T>C |
| CELF2 transcript variant 18 | NM_001326331.2:c.1110= | NM_001326331.2:c.1110T>C |
| CELF2 transcript variant 18 | NM_001326331.1:c.1110= | NM_001326331.1:c.1110T>C |
| CELF2 transcript variant 14 | NM_001326327.2:c.1146= | NM_001326327.2:c.1146T>C |
| CELF2 transcript variant 14 | NM_001326327.1:c.1146= | NM_001326327.1:c.1146T>C |
| CELF2 transcript variant 22 | NM_001326335.2:c.1104= | NM_001326335.2:c.1104T>C |
| CELF2 transcript variant 22 | NM_001326335.1:c.1104= | NM_001326335.1:c.1104T>C |
| CELF2 transcript variant 19 | NM_001326332.2:c.1092= | NM_001326332.2:c.1092T>C |
| CELF2 transcript variant 19 | NM_001326332.1:c.1092= | NM_001326332.1:c.1092T>C |
| CELF2 transcript variant 13 | NM_001326326.2:c.1128= | NM_001326326.2:c.1128T>C |
| CELF2 transcript variant 13 | NM_001326326.1:c.1128= | NM_001326326.1:c.1128T>C |
| CELF2 transcript variant 32 | NM_001326345.2:c.1038= | NM_001326345.2:c.1038T>C |
| CELF2 transcript variant 32 | NM_001326345.1:c.1038= | NM_001326345.1:c.1038T>C |
| CELF2 transcript variant 11 | NM_001326324.2:c.1038= | NM_001326324.2:c.1038T>C |
| CELF2 transcript variant 11 | NM_001326324.1:c.1038= | NM_001326324.1:c.1038T>C |
| CELF2 transcript variant 33 | NM_001326346.2:c.408= | NM_001326346.2:c.408T>C |
| CELF2 transcript variant 33 | NM_001326346.1:c.408= | NM_001326346.1:c.408T>C |
| CELF2 transcript variant 31 | NM_001326344.2:c.1020= | NM_001326344.2:c.1020T>C |
| CELF2 transcript variant 31 | NM_001326344.1:c.1020= | NM_001326344.1:c.1020T>C |
| CELF2 transcript variant 41 | NM_001394519.1:c.1125= | NM_001394519.1:c.1125T>C |
| CELF2 transcript variant 38 | NM_001394513.1:c.1113= | NM_001394513.1:c.1113T>C |
| CELF2 transcript variant 39 | NM_001394517.1:c.1020= | NM_001394517.1:c.1020T>C |
| CELF2 transcript variant 37 | NM_001394502.1:c.1110= | NM_001394502.1:c.1110T>C |
| CELF2 transcript variant X20 | XM_047424503.1:c.1038= | XM_047424503.1:c.1038T>C |
| CELF2 transcript variant X6 | XM_047424486.1:c.1143= | XM_047424486.1:c.1143T>C |
| CELF2 transcript variant X9 | XM_047424489.1:c.1050= | XM_047424489.1:c.1050T>C |
| CELF2 transcript variant 40 | NM_001394518.1:c.1125= | NM_001394518.1:c.1125T>C |
| CELF2 transcript variant 4 | NM_001083591.1:c.1032= | NM_001083591.1:c.1032T>C |
| CELF2 transcript variant X12 | XM_047424492.1:c.1050= | XM_047424492.1:c.1050T>C |
| CELF2 transcript variant X15 | XM_047424495.1:c.1050= | XM_047424495.1:c.1050T>C |
| CELF2 transcript variant X5 | XM_047424485.1:c.1158= | XM_047424485.1:c.1158T>C |
| CELF2 transcript variant X14 | XM_047424494.1:c.1050= | XM_047424494.1:c.1050T>C |
| CELF2 transcript variant X11 | XM_047424491.1:c.1050= | XM_047424491.1:c.1050T>C |
| CELF2 transcript variant X4 | XM_047424484.1:c.1158= | XM_047424484.1:c.1158T>C |
| CELF2 transcript variant X1 | XM_047424482.1:c.1215= | XM_047424482.1:c.1215T>C |
| CELF2 transcript variant X19 | XM_047424502.1:c.1038= | XM_047424502.1:c.1038T>C |
| CELF2 transcript variant X2 | XM_047424483.1:c.1203= | XM_047424483.1:c.1203T>C |
| CELF2 transcript variant X13 | XM_047424493.1:c.1050= | XM_047424493.1:c.1050T>C |
| CELF2 transcript variant X18 | XM_047424499.1:c.1050= | XM_047424499.1:c.1050T>C |
| CELF2 transcript variant X16 | XM_047424496.1:c.1050= | XM_047424496.1:c.1050T>C |
| CELF2 transcript variant X10 | XM_047424490.1:c.1050= | XM_047424490.1:c.1050T>C |
| CELF2 transcript variant X7 | XM_047424487.1:c.1140= | XM_047424487.1:c.1140T>C |
| CELF2 transcript variant X17 | XM_047424498.1:c.1050= | XM_047424498.1:c.1050T>C |
| CELF2 transcript variant X29 | XM_047424501.1:c.1038= | XM_047424501.1:c.1038T>C |
| CELF2 transcript variant X22 | XM_047424505.1:c.1020= | XM_047424505.1:c.1020T>C |
| CELF2 transcript variant X21 | XM_047424504.1:c.1032= | XM_047424504.1:c.1032T>C |
| CELF2 transcript variant X28 | XM_047424500.1:c.1050= | XM_047424500.1:c.1050T>C |
| CELF2 transcript variant X26 | XM_047424509.1:c.789= | XM_047424509.1:c.789T>C |
| CELF2 transcript variant X27 | XM_047424510.1:c.438= | XM_047424510.1:c.438T>C |
| CELF2 transcript variant 34 | NM_001326347.1:c.1056= | NM_001326347.1:c.1056T>C |
| CUGBP Elav-like family member 2 isoform 2 | NP_006552.3:p.Asn377= | NP_006552.3:p.Asn377= |
| CUGBP Elav-like family member 2 isoform 3 | NP_001020248.1:p.Asn364= | NP_001020248.1:p.Asn364= |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313259.1:p.Asn346= | NP_001313259.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform 22 | NP_001313272.1:p.Asn395= | NP_001313272.1:p.Asn395= |
| CUGBP Elav-like family member 2 isoform 5 | NP_001313258.1:p.Asn340= | NP_001313258.1:p.Asn340= |
| CUGBP Elav-like family member 2 isoform 18 | NP_001313269.1:p.Asn389= | NP_001313269.1:p.Asn389= |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313263.1:p.Asn346= | NP_001313263.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform 2 | NP_001313271.1:p.Asn377= | NP_001313271.1:p.Asn377= |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313278.1:p.Asn346= | NP_001313278.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform 23 | NP_001313248.1:p.Asn364= | NP_001313248.1:p.Asn364= |
| CUGBP Elav-like family member 2 isoform 14 | NP_001313265.1:p.Asn388= | NP_001313265.1:p.Asn388= |
| CUGBP Elav-like family member 2 isoform 17 | NP_001313268.1:p.Asn259= | NP_001313268.1:p.Asn259= |
| CUGBP Elav-like family member 2 isoform 16 | NP_001313267.1:p.Asn253= | NP_001313267.1:p.Asn253= |
| CUGBP Elav-like family member 2 isoform 6 | NP_001313250.1:p.Asn354= | NP_001313250.1:p.Asn354= |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313247.1:p.Asn346= | NP_001313247.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform 5 | NP_001313246.1:p.Asn340= | NP_001313246.1:p.Asn340= |
| CUGBP Elav-like family member 2 isoform 12 | NP_001313262.1:p.Asn142= | NP_001313262.1:p.Asn142= |
| CUGBP Elav-like family member 2 isoform 1 | NP_001020247.1:p.Asn346= | NP_001020247.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform 19 | NP_001313270.1:p.Asn371= | NP_001313270.1:p.Asn371= |
| CUGBP Elav-like family member 2 isoform 7 | NP_001313252.1:p.Asn360= | NP_001313252.1:p.Asn360= |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313257.1:p.Asn346= | NP_001313257.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313249.1:p.Asn346= | NP_001313249.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform 5 | NP_001313277.1:p.Asn340= | NP_001313277.1:p.Asn340= |
| CUGBP Elav-like family member 2 isoform 8 | NP_001313254.1:p.Asn395= | NP_001313254.1:p.Asn395= |
| CUGBP Elav-like family member 2 isoform X3 | XP_024303544.1:p.Asn374= | XP_024303544.1:p.Asn374= |
| CUGBP Elav-like family member 2 isoform 11 | NP_001313260.1:p.Asn370= | NP_001313260.1:p.Asn370= |
| CUGBP Elav-like family member 2 isoform 10 | NP_001313256.1:p.Asn382= | NP_001313256.1:p.Asn382= |
| CUGBP Elav-like family member 2 isoform 13 | NP_001313264.1:p.Asn368= | NP_001313264.1:p.Asn368= |
| CUGBP Elav-like family member 2 isoform 3 | NP_001313261.1:p.Asn364= | NP_001313261.1:p.Asn364= |
| CUGBP Elav-like family member 2 isoform 9 | NP_001313255.1:p.Asn376= | NP_001313255.1:p.Asn376= |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313274.1:p.Asn346= | NP_001313274.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform 1 | NP_001313253.1:p.Asn346= | NP_001313253.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform 20 | NP_001313275.1:p.Asn136= | NP_001313275.1:p.Asn136= |
| CUGBP Elav-like family member 2 isoform 5 | NP_001313273.1:p.Asn340= | NP_001313273.1:p.Asn340= |
| CUGBP Elav-like family member 2 isoform 24 | NP_001381448.1:p.Asn375= | NP_001381448.1:p.Asn375= |
| CUGBP Elav-like family member 2 isoform 19 | NP_001381442.1:p.Asn371= | NP_001381442.1:p.Asn371= |
| CUGBP Elav-like family member 2 isoform 5 | NP_001381446.1:p.Asn340= | NP_001381446.1:p.Asn340= |
| CUGBP Elav-like family member 2 isoform 11 | NP_001381431.1:p.Asn370= | NP_001381431.1:p.Asn370= |
| CUGBP Elav-like family member 2 isoform X9 | XP_047280459.1:p.Asn346= | XP_047280459.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform X5 | XP_047280442.1:p.Asn381= | XP_047280442.1:p.Asn381= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280445.1:p.Asn350= | XP_047280445.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform 24 | NP_001381447.1:p.Asn375= | NP_001381447.1:p.Asn375= |
| CUGBP Elav-like family member 2 isoform 4 | NP_001077060.1:p.Asn344= | NP_001077060.1:p.Asn344= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280448.1:p.Asn350= | XP_047280448.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280451.1:p.Asn350= | XP_047280451.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform X4 | XP_047280441.1:p.Asn386= | XP_047280441.1:p.Asn386= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280450.1:p.Asn350= | XP_047280450.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280447.1:p.Asn350= | XP_047280447.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform X4 | XP_047280440.1:p.Asn386= | XP_047280440.1:p.Asn386= |
| CUGBP Elav-like family member 2 isoform X1 | XP_047280438.1:p.Asn405= | XP_047280438.1:p.Asn405= |
| CUGBP Elav-like family member 2 isoform X9 | XP_047280458.1:p.Asn346= | XP_047280458.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform X2 | XP_047280439.1:p.Asn401= | XP_047280439.1:p.Asn401= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280449.1:p.Asn350= | XP_047280449.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280455.1:p.Asn350= | XP_047280455.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280452.1:p.Asn350= | XP_047280452.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280446.1:p.Asn350= | XP_047280446.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform X6 | XP_047280443.1:p.Asn380= | XP_047280443.1:p.Asn380= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280454.1:p.Asn350= | XP_047280454.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform X9 | XP_047280457.1:p.Asn346= | XP_047280457.1:p.Asn346= |
| CUGBP Elav-like family member 2 isoform X11 | XP_047280461.1:p.Asn340= | XP_047280461.1:p.Asn340= |
| CUGBP Elav-like family member 2 isoform X10 | XP_047280460.1:p.Asn344= | XP_047280460.1:p.Asn344= |
| CUGBP Elav-like family member 2 isoform X8 | XP_047280456.1:p.Asn350= | XP_047280456.1:p.Asn350= |
| CUGBP Elav-like family member 2 isoform X15 | XP_047280465.1:p.Asn263= | XP_047280465.1:p.Asn263= |
| CUGBP Elav-like family member 2 isoform X16 | XP_047280466.1:p.Asn146= | XP_047280466.1:p.Asn146= |
| CUGBP Elav-like family member 2 isoform 21 | NP_001313276.1:p.Asn352= | NP_001313276.1:p.Asn352= |
| CELF2 transcript variant 24 | NM_001326337.2:c.1088-4613= | NM_001326337.2:c.1088-4613T>C |
| CELF2 transcript variant X8 | XM_047424488.1:c.1016-4613= | XM_047424488.1:c.1016-4613T>C |
| CELF2 transcript variant X23 | XM_047424506.1:c.1124-4613= | XM_047424506.1:c.1124-4613T>C |
| CELF2 transcript variant X24 | XM_047424507.1:c.1109-4613= | XM_047424507.1:c.1109-4613T>C |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
1 SubSNP,
1 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2738107402 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000010.10 - 11363186 | Jul 13, 2019 (153) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1471375557
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.