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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1484342722

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:11328953 (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
C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000007 (1/140272, GnomAD)
G=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CELF2 : Missense Variant
CELF2-AS1 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 10680 C=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 C=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 C=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 C=1.00 G=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 C=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 C=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 466 C=1.000 G=0.000 1.0 0.0 0.0 N/A


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 - Genomes Global Study-wide 140272 C=0.999993 G=0.000007
gnomAD - Genomes European Sub 75958 C=1.00000 G=0.00000
gnomAD - Genomes African Sub 42046 C=1.00000 G=0.00000
gnomAD - Genomes American Sub 13660 C=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3134 C=0.9997 G=0.0003
gnomAD - Genomes Other Sub 2152 C=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 10680 C=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 G=0.00
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.11328953C>G
GRCh37.p13 chr 10 NC_000010.10:g.11370916C>G
Gene: CELF2, CUGBP Elav-like family member 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CELF2 transcript variant 1 NM_001025076.2:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 1 NP_001020247.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 4 NM_001083591.1:c.1367C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 4 NP_001077060.1:p.Ser456Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 34 NM_001326347.1:c.1391C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 21 NP_001313276.1:p.Ser464Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 15 NM_001326328.2:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 1 NP_001313257.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 24 NM_001326337.2:c.1259C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 15 NP_001313266.1:p.Ser420Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 10 NM_001326323.2:c.1415C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 7 NP_001313252.1:p.Ser472Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 28 NM_001326341.2:c.1448C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 19 NP_001313270.1:p.Ser483Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 14 NM_001326327.2:c.1481C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 10 NP_001313256.1:p.Ser494Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 13 NM_001326326.2:c.1463C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 9 NP_001313255.1:p.Ser488Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 22 NM_001326335.2:c.1439C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 13 NP_001313264.1:p.Ser480Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 25 NM_001326338.2:c.1094C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 16 NP_001313267.1:p.Ser365Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 19 NM_001326332.2:c.1427C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 3 NP_001313261.1:p.Ser476Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 26 NM_001326339.2:c.1112C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 17 NP_001313268.1:p.Ser371Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 30 NM_001326343.2:c.1520C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 22 NP_001313272.1:p.Ser507Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 23 NM_001326336.2:c.1499C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 14 NP_001313265.1:p.Ser500Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 29 NM_001326342.2:c.1466C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 2 NP_001313271.1:p.Ser489Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 8 NM_001326320.2:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 1 NP_001313249.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 9 NM_001326321.2:c.1397C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 6 NP_001313250.1:p.Ser466Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 6 NM_001326318.2:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 1 NP_001313247.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 11 NM_001326324.2:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 1 NP_001313253.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 3 NM_001025077.3:c.1427C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 3 NP_001020248.1:p.Ser476Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 5 NM_001326317.2:c.1355C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 5 NP_001313246.1:p.Ser452Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 27 NM_001326340.2:c.1502C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 18 NP_001313269.1:p.Ser501Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 20 NM_001326333.2:c.761C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 12 NP_001313262.1:p.Ser254Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 21 NM_001326334.2:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 1 NP_001313263.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 12 NM_001326325.2:c.1520C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 8 NP_001313254.1:p.Ser507Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 16 NM_001326329.2:c.1355C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 5 NP_001313258.1:p.Ser452Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 7 NM_001326319.2:c.1427C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 23 NP_001313248.1:p.Ser476Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 17 NM_001326330.2:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 1 NP_001313259.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 18 NM_001326331.2:c.1445C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 11 NP_001313260.1:p.Ser482Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 33 NM_001326346.2:c.743C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 20 NP_001313275.1:p.Ser248Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 31 NM_001326344.2:c.1355C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 5 NP_001313273.1:p.Ser452Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 36 NM_001326349.2:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 1 NP_001313278.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 2 NM_006561.4:c.1466C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 2 NP_006552.3:p.Ser489Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 32 NM_001326345.2:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 1 NP_001313274.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 35 NM_001326348.2:c.1355C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 5 NP_001313277.1:p.Ser452Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 40 NM_001394518.1:c.1460C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 24 NP_001381447.1:p.Ser487Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 37 NM_001394502.1:c.1445C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 11 NP_001381431.1:p.Ser482Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 39 NM_001394517.1:c.1355C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 5 NP_001381446.1:p.Ser452Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 38 NM_001394513.1:c.1448C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 19 NP_001381442.1:p.Ser483Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant 41 NM_001394519.1:c.1460C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform 24 NP_001381448.1:p.Ser487Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X25 XM_047424508.1:c. N/A Genic Downstream Transcript Variant
CELF2 transcript variant X1 XM_047424482.1:c.1550C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X1 XP_047280438.1:p.Ser517Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X2 XM_047424483.1:c.1538C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X2 XP_047280439.1:p.Ser513Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X3 XM_024447776.2:c.1457C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X3 XP_024303544.1:p.Ser486Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X4 XM_047424484.1:c.1493C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X4 XP_047280440.1:p.Ser498Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X5 XM_047424485.1:c.1493C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X4 XP_047280441.1:p.Ser498Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X6 XM_047424486.1:c.1478C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X5 XP_047280442.1:p.Ser493Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X7 XM_047424487.1:c.1475C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X6 XP_047280443.1:p.Ser492Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X8 XM_047424488.1:c.1187C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X7 XP_047280444.1:p.Ser396Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X9 XM_047424489.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280445.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X10 XM_047424490.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280446.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X11 XM_047424491.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280447.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X12 XM_047424492.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280448.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X13 XM_047424493.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280449.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X14 XM_047424494.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280450.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X15 XM_047424495.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280451.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X16 XM_047424496.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280452.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X17 XM_047424498.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280454.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X18 XM_047424499.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280455.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X28 XM_047424500.1:c.1385C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X8 XP_047280456.1:p.Ser462Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X29 XM_047424501.1:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X9 XP_047280457.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X19 XM_047424502.1:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X9 XP_047280458.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X20 XM_047424503.1:c.1373C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X9 XP_047280459.1:p.Ser458Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X21 XM_047424504.1:c.1367C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X10 XP_047280460.1:p.Ser456Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X22 XM_047424505.1:c.1355C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X11 XP_047280461.1:p.Ser452Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X23 XM_047424506.1:c.1295C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X12 XP_047280462.1:p.Ser432Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X24 XM_047424507.1:c.1280C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X13 XP_047280463.1:p.Ser427Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X26 XM_047424509.1:c.1124C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X15 XP_047280465.1:p.Ser375Cys S (Ser) > C (Cys) Missense Variant
CELF2 transcript variant X27 XM_047424510.1:c.773C>G S [TCT] > C [TGT] Coding Sequence Variant
CUGBP Elav-like family member 2 isoform X16 XP_047280466.1:p.Ser258Cys S (Ser) > C (Cys) Missense 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 C= G
GRCh38.p14 chr 10 NC_000010.11:g.11328953= NC_000010.11:g.11328953C>G
GRCh37.p13 chr 10 NC_000010.10:g.11370916= NC_000010.10:g.11370916C>G
CELF2 transcript variant 2 NM_006561.4:c.1466= NM_006561.4:c.1466C>G
CELF2 transcript variant 2 NM_006561.3:c.1466= NM_006561.3:c.1466C>G
CELF2 transcript variant 3 NM_001025077.3:c.1427= NM_001025077.3:c.1427C>G
CELF2 transcript variant 3 NM_001025077.2:c.1427= NM_001025077.2:c.1427C>G
CELF2 transcript variant 17 NM_001326330.2:c.1373= NM_001326330.2:c.1373C>G
CELF2 transcript variant 17 NM_001326330.1:c.1373= NM_001326330.1:c.1373C>G
CELF2 transcript variant 30 NM_001326343.2:c.1520= NM_001326343.2:c.1520C>G
CELF2 transcript variant 30 NM_001326343.1:c.1520= NM_001326343.1:c.1520C>G
CELF2 transcript variant 16 NM_001326329.2:c.1355= NM_001326329.2:c.1355C>G
CELF2 transcript variant 16 NM_001326329.1:c.1355= NM_001326329.1:c.1355C>G
CELF2 transcript variant 27 NM_001326340.2:c.1502= NM_001326340.2:c.1502C>G
CELF2 transcript variant 27 NM_001326340.1:c.1502= NM_001326340.1:c.1502C>G
CELF2 transcript variant 21 NM_001326334.2:c.1373= NM_001326334.2:c.1373C>G
CELF2 transcript variant 21 NM_001326334.1:c.1373= NM_001326334.1:c.1373C>G
CELF2 transcript variant 29 NM_001326342.2:c.1466= NM_001326342.2:c.1466C>G
CELF2 transcript variant 29 NM_001326342.1:c.1466= NM_001326342.1:c.1466C>G
CELF2 transcript variant 36 NM_001326349.2:c.1373= NM_001326349.2:c.1373C>G
CELF2 transcript variant 36 NM_001326349.1:c.1373= NM_001326349.1:c.1373C>G
CELF2 transcript variant 7 NM_001326319.2:c.1427= NM_001326319.2:c.1427C>G
CELF2 transcript variant 7 NM_001326319.1:c.1427= NM_001326319.1:c.1427C>G
CELF2 transcript variant 23 NM_001326336.2:c.1499= NM_001326336.2:c.1499C>G
CELF2 transcript variant 23 NM_001326336.1:c.1499= NM_001326336.1:c.1499C>G
CELF2 transcript variant 26 NM_001326339.2:c.1112= NM_001326339.2:c.1112C>G
CELF2 transcript variant 26 NM_001326339.1:c.1112= NM_001326339.1:c.1112C>G
CELF2 transcript variant 25 NM_001326338.2:c.1094= NM_001326338.2:c.1094C>G
CELF2 transcript variant 25 NM_001326338.1:c.1094= NM_001326338.1:c.1094C>G
CELF2 transcript variant 9 NM_001326321.2:c.1397= NM_001326321.2:c.1397C>G
CELF2 transcript variant 9 NM_001326321.1:c.1397= NM_001326321.1:c.1397C>G
CELF2 transcript variant 6 NM_001326318.2:c.1373= NM_001326318.2:c.1373C>G
CELF2 transcript variant 6 NM_001326318.1:c.1373= NM_001326318.1:c.1373C>G
CELF2 transcript variant 5 NM_001326317.2:c.1355= NM_001326317.2:c.1355C>G
CELF2 transcript variant 5 NM_001326317.1:c.1355= NM_001326317.1:c.1355C>G
CELF2 transcript variant 20 NM_001326333.2:c.761= NM_001326333.2:c.761C>G
CELF2 transcript variant 20 NM_001326333.1:c.761= NM_001326333.1:c.761C>G
CELF2 transcript variant 1 NM_001025076.2:c.1373= NM_001025076.2:c.1373C>G
CELF2 transcript variant 28 NM_001326341.2:c.1448= NM_001326341.2:c.1448C>G
CELF2 transcript variant 28 NM_001326341.1:c.1448= NM_001326341.1:c.1448C>G
CELF2 transcript variant 10 NM_001326323.2:c.1415= NM_001326323.2:c.1415C>G
CELF2 transcript variant 10 NM_001326323.1:c.1415= NM_001326323.1:c.1415C>G
CELF2 transcript variant 15 NM_001326328.2:c.1373= NM_001326328.2:c.1373C>G
CELF2 transcript variant 15 NM_001326328.1:c.1373= NM_001326328.1:c.1373C>G
CELF2 transcript variant 8 NM_001326320.2:c.1373= NM_001326320.2:c.1373C>G
CELF2 transcript variant 8 NM_001326320.1:c.1373= NM_001326320.1:c.1373C>G
CELF2 transcript variant 35 NM_001326348.2:c.1355= NM_001326348.2:c.1355C>G
CELF2 transcript variant 35 NM_001326348.1:c.1355= NM_001326348.1:c.1355C>G
CELF2 transcript variant 12 NM_001326325.2:c.1520= NM_001326325.2:c.1520C>G
CELF2 transcript variant 12 NM_001326325.1:c.1520= NM_001326325.1:c.1520C>G
CELF2 transcript variant X3 XM_024447776.2:c.1457= XM_024447776.2:c.1457C>G
CELF2 transcript variant X9 XM_024447776.1:c.1457= XM_024447776.1:c.1457C>G
CELF2 transcript variant 18 NM_001326331.2:c.1445= NM_001326331.2:c.1445C>G
CELF2 transcript variant 18 NM_001326331.1:c.1445= NM_001326331.1:c.1445C>G
CELF2 transcript variant 14 NM_001326327.2:c.1481= NM_001326327.2:c.1481C>G
CELF2 transcript variant 14 NM_001326327.1:c.1481= NM_001326327.1:c.1481C>G
CELF2 transcript variant 22 NM_001326335.2:c.1439= NM_001326335.2:c.1439C>G
CELF2 transcript variant 22 NM_001326335.1:c.1439= NM_001326335.1:c.1439C>G
CELF2 transcript variant 19 NM_001326332.2:c.1427= NM_001326332.2:c.1427C>G
CELF2 transcript variant 19 NM_001326332.1:c.1427= NM_001326332.1:c.1427C>G
CELF2 transcript variant 13 NM_001326326.2:c.1463= NM_001326326.2:c.1463C>G
CELF2 transcript variant 13 NM_001326326.1:c.1463= NM_001326326.1:c.1463C>G
CELF2 transcript variant 32 NM_001326345.2:c.1373= NM_001326345.2:c.1373C>G
CELF2 transcript variant 32 NM_001326345.1:c.1373= NM_001326345.1:c.1373C>G
CELF2 transcript variant 11 NM_001326324.2:c.1373= NM_001326324.2:c.1373C>G
CELF2 transcript variant 11 NM_001326324.1:c.1373= NM_001326324.1:c.1373C>G
CELF2 transcript variant 33 NM_001326346.2:c.743= NM_001326346.2:c.743C>G
CELF2 transcript variant 33 NM_001326346.1:c.743= NM_001326346.1:c.743C>G
CELF2 transcript variant 31 NM_001326344.2:c.1355= NM_001326344.2:c.1355C>G
CELF2 transcript variant 31 NM_001326344.1:c.1355= NM_001326344.1:c.1355C>G
CELF2 transcript variant 24 NM_001326337.2:c.1259= NM_001326337.2:c.1259C>G
CELF2 transcript variant 24 NM_001326337.1:c.1259= NM_001326337.1:c.1259C>G
CELF2 transcript variant 41 NM_001394519.1:c.1460= NM_001394519.1:c.1460C>G
CELF2 transcript variant 38 NM_001394513.1:c.1448= NM_001394513.1:c.1448C>G
CELF2 transcript variant 39 NM_001394517.1:c.1355= NM_001394517.1:c.1355C>G
CELF2 transcript variant 37 NM_001394502.1:c.1445= NM_001394502.1:c.1445C>G
CELF2 transcript variant X20 XM_047424503.1:c.1373= XM_047424503.1:c.1373C>G
CELF2 transcript variant X23 XM_047424506.1:c.1295= XM_047424506.1:c.1295C>G
CELF2 transcript variant X6 XM_047424486.1:c.1478= XM_047424486.1:c.1478C>G
CELF2 transcript variant X9 XM_047424489.1:c.1385= XM_047424489.1:c.1385C>G
CELF2 transcript variant 40 NM_001394518.1:c.1460= NM_001394518.1:c.1460C>G
CELF2 transcript variant 4 NM_001083591.1:c.1367= NM_001083591.1:c.1367C>G
CELF2 transcript variant X12 XM_047424492.1:c.1385= XM_047424492.1:c.1385C>G
CELF2 transcript variant X15 XM_047424495.1:c.1385= XM_047424495.1:c.1385C>G
CELF2 transcript variant X5 XM_047424485.1:c.1493= XM_047424485.1:c.1493C>G
CELF2 transcript variant X14 XM_047424494.1:c.1385= XM_047424494.1:c.1385C>G
CELF2 transcript variant X11 XM_047424491.1:c.1385= XM_047424491.1:c.1385C>G
CELF2 transcript variant X4 XM_047424484.1:c.1493= XM_047424484.1:c.1493C>G
CELF2 transcript variant X1 XM_047424482.1:c.1550= XM_047424482.1:c.1550C>G
CELF2 transcript variant X19 XM_047424502.1:c.1373= XM_047424502.1:c.1373C>G
CELF2 transcript variant X2 XM_047424483.1:c.1538= XM_047424483.1:c.1538C>G
CELF2 transcript variant X13 XM_047424493.1:c.1385= XM_047424493.1:c.1385C>G
CELF2 transcript variant X18 XM_047424499.1:c.1385= XM_047424499.1:c.1385C>G
CELF2 transcript variant X16 XM_047424496.1:c.1385= XM_047424496.1:c.1385C>G
CELF2 transcript variant X10 XM_047424490.1:c.1385= XM_047424490.1:c.1385C>G
CELF2 transcript variant X7 XM_047424487.1:c.1475= XM_047424487.1:c.1475C>G
CELF2 transcript variant X17 XM_047424498.1:c.1385= XM_047424498.1:c.1385C>G
CELF2 transcript variant X29 XM_047424501.1:c.1373= XM_047424501.1:c.1373C>G
CELF2 transcript variant X22 XM_047424505.1:c.1355= XM_047424505.1:c.1355C>G
CELF2 transcript variant X24 XM_047424507.1:c.1280= XM_047424507.1:c.1280C>G
CELF2 transcript variant X21 XM_047424504.1:c.1367= XM_047424504.1:c.1367C>G
CELF2 transcript variant X28 XM_047424500.1:c.1385= XM_047424500.1:c.1385C>G
CELF2 transcript variant X26 XM_047424509.1:c.1124= XM_047424509.1:c.1124C>G
CELF2 transcript variant X8 XM_047424488.1:c.1187= XM_047424488.1:c.1187C>G
CELF2 transcript variant X27 XM_047424510.1:c.773= XM_047424510.1:c.773C>G
CELF2 transcript variant 34 NM_001326347.1:c.1391= NM_001326347.1:c.1391C>G
CUGBP Elav-like family member 2 isoform 2 NP_006552.3:p.Ser489= NP_006552.3:p.Ser489Cys
CUGBP Elav-like family member 2 isoform 3 NP_001020248.1:p.Ser476= NP_001020248.1:p.Ser476Cys
CUGBP Elav-like family member 2 isoform 1 NP_001313259.1:p.Ser458= NP_001313259.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform 22 NP_001313272.1:p.Ser507= NP_001313272.1:p.Ser507Cys
CUGBP Elav-like family member 2 isoform 5 NP_001313258.1:p.Ser452= NP_001313258.1:p.Ser452Cys
CUGBP Elav-like family member 2 isoform 18 NP_001313269.1:p.Ser501= NP_001313269.1:p.Ser501Cys
CUGBP Elav-like family member 2 isoform 1 NP_001313263.1:p.Ser458= NP_001313263.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform 2 NP_001313271.1:p.Ser489= NP_001313271.1:p.Ser489Cys
CUGBP Elav-like family member 2 isoform 1 NP_001313278.1:p.Ser458= NP_001313278.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform 23 NP_001313248.1:p.Ser476= NP_001313248.1:p.Ser476Cys
CUGBP Elav-like family member 2 isoform 14 NP_001313265.1:p.Ser500= NP_001313265.1:p.Ser500Cys
CUGBP Elav-like family member 2 isoform 17 NP_001313268.1:p.Ser371= NP_001313268.1:p.Ser371Cys
CUGBP Elav-like family member 2 isoform 16 NP_001313267.1:p.Ser365= NP_001313267.1:p.Ser365Cys
CUGBP Elav-like family member 2 isoform 6 NP_001313250.1:p.Ser466= NP_001313250.1:p.Ser466Cys
CUGBP Elav-like family member 2 isoform 1 NP_001313247.1:p.Ser458= NP_001313247.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform 5 NP_001313246.1:p.Ser452= NP_001313246.1:p.Ser452Cys
CUGBP Elav-like family member 2 isoform 12 NP_001313262.1:p.Ser254= NP_001313262.1:p.Ser254Cys
CUGBP Elav-like family member 2 isoform 1 NP_001020247.1:p.Ser458= NP_001020247.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform 19 NP_001313270.1:p.Ser483= NP_001313270.1:p.Ser483Cys
CUGBP Elav-like family member 2 isoform 7 NP_001313252.1:p.Ser472= NP_001313252.1:p.Ser472Cys
CUGBP Elav-like family member 2 isoform 1 NP_001313257.1:p.Ser458= NP_001313257.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform 1 NP_001313249.1:p.Ser458= NP_001313249.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform 5 NP_001313277.1:p.Ser452= NP_001313277.1:p.Ser452Cys
CUGBP Elav-like family member 2 isoform 8 NP_001313254.1:p.Ser507= NP_001313254.1:p.Ser507Cys
CUGBP Elav-like family member 2 isoform X3 XP_024303544.1:p.Ser486= XP_024303544.1:p.Ser486Cys
CUGBP Elav-like family member 2 isoform 11 NP_001313260.1:p.Ser482= NP_001313260.1:p.Ser482Cys
CUGBP Elav-like family member 2 isoform 10 NP_001313256.1:p.Ser494= NP_001313256.1:p.Ser494Cys
CUGBP Elav-like family member 2 isoform 13 NP_001313264.1:p.Ser480= NP_001313264.1:p.Ser480Cys
CUGBP Elav-like family member 2 isoform 3 NP_001313261.1:p.Ser476= NP_001313261.1:p.Ser476Cys
CUGBP Elav-like family member 2 isoform 9 NP_001313255.1:p.Ser488= NP_001313255.1:p.Ser488Cys
CUGBP Elav-like family member 2 isoform 1 NP_001313274.1:p.Ser458= NP_001313274.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform 1 NP_001313253.1:p.Ser458= NP_001313253.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform 20 NP_001313275.1:p.Ser248= NP_001313275.1:p.Ser248Cys
CUGBP Elav-like family member 2 isoform 5 NP_001313273.1:p.Ser452= NP_001313273.1:p.Ser452Cys
CUGBP Elav-like family member 2 isoform 15 NP_001313266.1:p.Ser420= NP_001313266.1:p.Ser420Cys
CUGBP Elav-like family member 2 isoform 24 NP_001381448.1:p.Ser487= NP_001381448.1:p.Ser487Cys
CUGBP Elav-like family member 2 isoform 19 NP_001381442.1:p.Ser483= NP_001381442.1:p.Ser483Cys
CUGBP Elav-like family member 2 isoform 5 NP_001381446.1:p.Ser452= NP_001381446.1:p.Ser452Cys
CUGBP Elav-like family member 2 isoform 11 NP_001381431.1:p.Ser482= NP_001381431.1:p.Ser482Cys
CUGBP Elav-like family member 2 isoform X9 XP_047280459.1:p.Ser458= XP_047280459.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform X12 XP_047280462.1:p.Ser432= XP_047280462.1:p.Ser432Cys
CUGBP Elav-like family member 2 isoform X5 XP_047280442.1:p.Ser493= XP_047280442.1:p.Ser493Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280445.1:p.Ser462= XP_047280445.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform 24 NP_001381447.1:p.Ser487= NP_001381447.1:p.Ser487Cys
CUGBP Elav-like family member 2 isoform 4 NP_001077060.1:p.Ser456= NP_001077060.1:p.Ser456Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280448.1:p.Ser462= XP_047280448.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280451.1:p.Ser462= XP_047280451.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform X4 XP_047280441.1:p.Ser498= XP_047280441.1:p.Ser498Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280450.1:p.Ser462= XP_047280450.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280447.1:p.Ser462= XP_047280447.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform X4 XP_047280440.1:p.Ser498= XP_047280440.1:p.Ser498Cys
CUGBP Elav-like family member 2 isoform X1 XP_047280438.1:p.Ser517= XP_047280438.1:p.Ser517Cys
CUGBP Elav-like family member 2 isoform X9 XP_047280458.1:p.Ser458= XP_047280458.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform X2 XP_047280439.1:p.Ser513= XP_047280439.1:p.Ser513Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280449.1:p.Ser462= XP_047280449.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280455.1:p.Ser462= XP_047280455.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280452.1:p.Ser462= XP_047280452.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280446.1:p.Ser462= XP_047280446.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform X6 XP_047280443.1:p.Ser492= XP_047280443.1:p.Ser492Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280454.1:p.Ser462= XP_047280454.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform X9 XP_047280457.1:p.Ser458= XP_047280457.1:p.Ser458Cys
CUGBP Elav-like family member 2 isoform X11 XP_047280461.1:p.Ser452= XP_047280461.1:p.Ser452Cys
CUGBP Elav-like family member 2 isoform X13 XP_047280463.1:p.Ser427= XP_047280463.1:p.Ser427Cys
CUGBP Elav-like family member 2 isoform X10 XP_047280460.1:p.Ser456= XP_047280460.1:p.Ser456Cys
CUGBP Elav-like family member 2 isoform X8 XP_047280456.1:p.Ser462= XP_047280456.1:p.Ser462Cys
CUGBP Elav-like family member 2 isoform X15 XP_047280465.1:p.Ser375= XP_047280465.1:p.Ser375Cys
CUGBP Elav-like family member 2 isoform X7 XP_047280444.1:p.Ser396= XP_047280444.1:p.Ser396Cys
CUGBP Elav-like family member 2 isoform X16 XP_047280466.1:p.Ser258= XP_047280466.1:p.Ser258Cys
CUGBP Elav-like family member 2 isoform 21 NP_001313276.1:p.Ser464= NP_001313276.1:p.Ser464Cys
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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2748345074 Nov 08, 2017 (151)
2 GNOMAD ss2885539664 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000010.11 - 11328953 Apr 27, 2021 (155)
4 ALFA NC_000010.11 - 11328953 Apr 27, 2021 (155)
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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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2748345074, ss2885539664 NC_000010.10:11370915:C:G NC_000010.11:11328952:C:G (self)
343528702, 11553421423 NC_000010.11:11328952:C:G NC_000010.11:11328952:C:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1484342722

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
Top▲ Help

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.

Software version is: 2.0.1.post820+afb47a3d