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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.

rs766426412

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:152542791 (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
G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000004 (1/249222, GnomAD_exome)
C=0.000008 (1/120536, ExAC) (+ 1 more)
C=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FMNL2 : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 G=1.00000 C=0.00000
European Sub 6962 G=1.0000 C=0.0000
African Sub 2294 G=1.0000 C=0.0000
African Others Sub 84 G=1.00 C=0.00
African American Sub 2210 G=1.0000 C=0.0000
Asian Sub 108 G=1.000 C=0.000
East Asian Sub 84 G=1.00 C=0.00
Other Asian Sub 24 G=1.00 C=0.00
Latin American 1 Sub 146 G=1.000 C=0.000
Latin American 2 Sub 610 G=1.000 C=0.000
South Asian Sub 94 G=1.00 C=0.00
Other Sub 466 G=1.000 C=0.000


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
TopMed Global Study-wide 264690 G=0.999996 C=0.000004
gnomAD - Exomes Global Study-wide 249222 G=0.999996 C=0.000004
gnomAD - Exomes European Sub 134584 G=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 48546 G=1.00000 C=0.00000
gnomAD - Exomes American Sub 34498 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 15484 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10062 G=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6048 G=1.0000 C=0.0000
ExAC Global Study-wide 120536 G=0.999992 C=0.000008
ExAC Europe Sub 73294 G=0.99999 C=0.00001
ExAC Asian Sub 25050 G=1.00000 C=0.00000
ExAC American Sub 11500 G=1.00000 C=0.00000
ExAC African Sub 9796 G=1.0000 C=0.0000
ExAC Other Sub 896 G=1.000 C=0.000
Allele Frequency Aggregator Total Global 10680 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 C=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 2 NC_000002.12:g.152542791G>C
GRCh37.p13 chr 2 NC_000002.11:g.153399305G>C
Gene: FMNL2, formin like 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FMNL2 transcript NM_052905.4:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 NP_443137.2:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X12 XM_011510536.4:c. N/A Genic Upstream Transcript Variant
FMNL2 transcript variant X1 XM_011510530.2:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X1 XP_011508832.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X2 XM_011510531.2:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X2 XP_011508833.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X3 XM_011510533.4:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X3 XP_011508835.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X4 XM_005246263.3:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X4 XP_005246320.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X5 XM_005246265.4:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X5 XP_005246322.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X6 XM_011510534.2:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X6 XP_011508836.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X7 XM_047443111.1:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X7 XP_047299067.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X8 XM_047443112.1:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X8 XP_047299068.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X9 XM_011510535.3:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X9 XP_011508837.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X10 XM_047443113.1:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X10 XP_047299069.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X11 XM_047443114.1:c.254G>C G [GGC] > A [GCC] Coding Sequence Variant
formin-like protein 2 isoform X11 XP_047299070.1:p.Gly85Ala G (Gly) > A (Ala) Missense Variant
FMNL2 transcript variant X13 XR_241279.5:n.684G>C N/A Non Coding Transcript 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 G= C
GRCh38.p14 chr 2 NC_000002.12:g.152542791= NC_000002.12:g.152542791G>C
GRCh37.p13 chr 2 NC_000002.11:g.153399305= NC_000002.11:g.153399305G>C
FMNL2 transcript variant X13 XR_241279.5:n.684= XR_241279.5:n.684G>C
FMNL2 transcript variant X10 XR_241279.4:n.688= XR_241279.4:n.688G>C
FMNL2 transcript variant X10 XR_241279.3:n.688= XR_241279.3:n.688G>C
FMNL2 transcript variant X10 XR_241279.2:n.688= XR_241279.2:n.688G>C
FMNL2 transcript variant X5 XR_241279.1:n.688= XR_241279.1:n.688G>C
FMNL2 transcript variant X3 XM_011510533.4:c.254= XM_011510533.4:c.254G>C
FMNL2 transcript variant X4 XM_011510533.3:c.254= XM_011510533.3:c.254G>C
FMNL2 transcript variant X4 XM_011510533.2:c.254= XM_011510533.2:c.254G>C
FMNL2 transcript variant X4 XM_011510533.1:c.254= XM_011510533.1:c.254G>C
FMNL2 transcript variant X5 XM_005246265.4:c.254= XM_005246265.4:c.254G>C
FMNL2 transcript variant X6 XM_005246265.3:c.254= XM_005246265.3:c.254G>C
FMNL2 transcript variant X6 XM_005246265.2:c.254= XM_005246265.2:c.254G>C
FMNL2 transcript variant X3 XM_005246265.1:c.254= XM_005246265.1:c.254G>C
FMNL2 transcript NM_052905.4:c.254= NM_052905.4:c.254G>C
FMNL2 transcript NM_052905.3:c.254= NM_052905.3:c.254G>C
FMNL2 transcript variant X4 XM_005246263.3:c.254= XM_005246263.3:c.254G>C
FMNL2 transcript variant X5 XM_005246263.2:c.254= XM_005246263.2:c.254G>C
FMNL2 transcript variant X1 XM_005246263.1:c.254= XM_005246263.1:c.254G>C
FMNL2 transcript variant X9 XM_011510535.3:c.254= XM_011510535.3:c.254G>C
FMNL2 transcript variant X8 XM_011510535.2:c.254= XM_011510535.2:c.254G>C
FMNL2 transcript variant X8 XM_011510535.1:c.254= XM_011510535.1:c.254G>C
FMNL2 transcript variant X2 XM_011510531.2:c.254= XM_011510531.2:c.254G>C
FMNL2 transcript variant X2 XM_011510531.1:c.254= XM_011510531.1:c.254G>C
FMNL2 transcript variant X1 XM_011510530.2:c.254= XM_011510530.2:c.254G>C
FMNL2 transcript variant X1 XM_011510530.1:c.254= XM_011510530.1:c.254G>C
FMNL2 transcript variant X6 XM_011510534.2:c.254= XM_011510534.2:c.254G>C
FMNL2 transcript variant X7 XM_011510534.1:c.254= XM_011510534.1:c.254G>C
FMNL2 transcript variant 1 NM_001004421.1:c.254= NM_001004421.1:c.254G>C
FMNL2 transcript variant 4 NM_001004417.1:c.254= NM_001004417.1:c.254G>C
FMNL2 transcript variant X7 XM_047443111.1:c.254= XM_047443111.1:c.254G>C
FMNL2 transcript variant 3 NM_001004422.1:c.254= NM_001004422.1:c.254G>C
FMNL2 transcript variant X8 XM_047443112.1:c.254= XM_047443112.1:c.254G>C
FMNL2 transcript variant X10 XM_047443113.1:c.254= XM_047443113.1:c.254G>C
FMNL2 transcript variant X11 XM_047443114.1:c.254= XM_047443114.1:c.254G>C
formin-like protein 2 isoform X3 XP_011508835.1:p.Gly85= XP_011508835.1:p.Gly85Ala
formin-like protein 2 isoform X5 XP_005246322.1:p.Gly85= XP_005246322.1:p.Gly85Ala
formin-like protein 2 NP_443137.2:p.Gly85= NP_443137.2:p.Gly85Ala
formin-like protein 2 isoform X4 XP_005246320.1:p.Gly85= XP_005246320.1:p.Gly85Ala
formin-like protein 2 isoform X9 XP_011508837.1:p.Gly85= XP_011508837.1:p.Gly85Ala
formin-like protein 2 isoform X2 XP_011508833.1:p.Gly85= XP_011508833.1:p.Gly85Ala
formin-like protein 2 isoform X1 XP_011508832.1:p.Gly85= XP_011508832.1:p.Gly85Ala
formin-like protein 2 isoform X6 XP_011508836.1:p.Gly85= XP_011508836.1:p.Gly85Ala
formin-like protein 2 isoform X7 XP_047299067.1:p.Gly85= XP_047299067.1:p.Gly85Ala
formin-like protein 2 isoform X8 XP_047299068.1:p.Gly85= XP_047299068.1:p.Gly85Ala
formin-like protein 2 isoform X10 XP_047299069.1:p.Gly85= XP_047299069.1:p.Gly85Ala
formin-like protein 2 isoform X11 XP_047299070.1:p.Gly85= XP_047299070.1:p.Gly85Ala
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1686547624 Apr 01, 2015 (144)
2 GNOMAD ss2733038266 Nov 08, 2017 (151)
3 TOPMED ss4529186719 Apr 26, 2021 (155)
4 ExAC NC_000002.11 - 153399305 Oct 11, 2018 (152)
5 gnomAD - Exomes NC_000002.11 - 153399305 Jul 13, 2019 (153)
6 TopMed NC_000002.12 - 152542791 Apr 26, 2021 (155)
7 ALFA NC_000002.12 - 152542791 Apr 26, 2021 (155)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
6437117, 2095787, ss1686547624, ss2733038266 NC_000002.11:153399304:G:C NC_000002.12:152542790:G:C (self)
333009598, 11680042604, ss4529186719 NC_000002.12:152542790:G:C NC_000002.12:152542790:G:C (self)
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 rs766426412

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.post761+d5e8e07