Name: rs1491218894
Published: September 21, 2022
License: Open Access

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.

rs1491218894

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:38003557-38003559 (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: insGTAG / insTTAG
Variation Type: Indel Insertion and Deletion
Frequency: insGTAG=0.000038 (5/133236, GnomAD)
insGTAG=0.00000 (0/11860, ALFA)
insTTAG=0.00000 (0/11860, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RMDN2 : Intron Variant
RMDN2-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	HWEP
Total	Global	11860	TAG=1.00000	TAGGTAG=0.00000, TAGTTAG=0.00000	1.0	N/A
European	Sub	7616	TAG=1.0000	TAGGTAG=0.0000, TAGTTAG=0.0000	1.0	N/A
African	Sub	2816	TAG=1.0000	TAGGTAG=0.0000, TAGTTAG=0.0000	1.0	N/A
African Others	Sub	108	TAG=1.000	TAGGTAG=0.000, TAGTTAG=0.000	1.0	N/A
African American	Sub	2708	TAG=1.0000	TAGGTAG=0.0000, TAGTTAG=0.0000	1.0	N/A
Asian	Sub	108	TAG=1.000	TAGGTAG=0.000, TAGTTAG=0.000	1.0	N/A
East Asian	Sub	84	TAG=1.00	TAGGTAG=0.00, TAGTTAG=0.00	1.0	N/A
Other Asian	Sub	24	TAG=1.00	TAGGTAG=0.00, TAGTTAG=0.00	1.0	N/A
Latin American 1	Sub	146	TAG=1.000	TAGGTAG=0.000, TAGTTAG=0.000	1.0	N/A
Latin American 2	Sub	610	TAG=1.000	TAGGTAG=0.000, TAGTTAG=0.000	1.0	N/A
South Asian	Sub	94	TAG=1.00	TAGGTAG=0.00, TAGTTAG=0.00	1.0	N/A
Other	Sub	470	TAG=1.000	TAGGTAG=0.000, TAGTTAG=0.000	1.0	N/A

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Genomes	Global	Study-wide	133236	- No frequency provided	insGTAG=0.000038
gnomAD - Genomes	European	Sub	72154	- No frequency provided	insGTAG=0.00006
gnomAD - Genomes	African	Sub	39648	- No frequency provided	insGTAG=0.00003
gnomAD - Genomes	American	Sub	13062	- No frequency provided	insGTAG=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3258	- No frequency provided	insGTAG=0.0000
gnomAD - Genomes	East Asian	Sub	3064	- No frequency provided	insGTAG=0.0000
gnomAD - Genomes	Other	Sub	2050	- No frequency provided	insGTAG=0.0000
Allele Frequency Aggregator	Total	Global	11860	TAG=1.00000	insGTAG=0.00000, insTTAG=0.00000
Allele Frequency Aggregator	European	Sub	7616	TAG=1.0000	insGTAG=0.0000, insTTAG=0.0000
Allele Frequency Aggregator	African	Sub	2816	TAG=1.0000	insGTAG=0.0000, insTTAG=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	TAG=1.000	insGTAG=0.000, insTTAG=0.000
Allele Frequency Aggregator	Other	Sub	470	TAG=1.000	insGTAG=0.000, insTTAG=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	TAG=1.000	insGTAG=0.000, insTTAG=0.000
Allele Frequency Aggregator	Asian	Sub	108	TAG=1.000	insGTAG=0.000, insTTAG=0.000
Allele Frequency Aggregator	South Asian	Sub	94	TAG=1.00	insGTAG=0.00, insTTAG=0.00

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.38003559_38003560insGTAG
GRCh38.p14 chr 2	NC_000002.12:g.38003559_38003560insTTAG
GRCh37.p13 chr 2	NC_000002.11:g.38230702_38230703insGTAG
GRCh37.p13 chr 2	NC_000002.11:g.38230702_38230703insTTAG

Gene: RMDN2, regulator of microtubule dynamics 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RMDN2 transcript variant 2	NM_001170791.3:c.1045-432… NM_001170791.3:c.1045-432_1045-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant 3	NM_001170792.3:c.1045-432… NM_001170792.3:c.1045-432_1045-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant 4	NM_001170793.3:c.610-432_… NM_001170793.3:c.610-432_610-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant 5	NM_001322211.2:c.1045-432… NM_001322211.2:c.1045-432_1045-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant 6	NM_001322212.2:c.1045-432… NM_001322212.2:c.1045-432_1045-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant 1	NM_144713.5:c.1579-432_15… NM_144713.5:c.1579-432_1579-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X1	XM_011532614.4:c.1579-432… XM_011532614.4:c.1579-432_1579-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X2	XM_011532615.4:c.1579-432… XM_011532615.4:c.1579-432_1579-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X5	XM_011532616.3:c.1045-432… XM_011532616.3:c.1045-432_1045-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X3	XM_017003474.2:c.1579-432… XM_017003474.2:c.1579-432_1579-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X6	XM_017003476.3:c.1045-432… XM_017003476.3:c.1045-432_1045-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X7	XM_017003477.3:c.1045-432… XM_017003477.3:c.1045-432_1045-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X8	XM_017003478.2:c.1045-432… XM_017003478.2:c.1045-432_1045-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X9	XM_047443518.1:c.1045-432… XM_047443518.1:c.1045-432_1045-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X10	XM_047443519.1:c.1045-432… XM_047443519.1:c.1045-432_1045-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X11	XM_047443520.1:c.610-432_… XM_047443520.1:c.610-432_610-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X12	XM_047443521.1:c.610-432_… XM_047443521.1:c.610-432_610-431insGTAG	N/A	Intron Variant
RMDN2 transcript variant X4	XR_939668.4:n.	N/A	Intron Variant

Gene: RMDN2-AS1, RMDN2 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RMDN2-AS1 transcript	NR_102712.1:n.	N/A	Intron Variant

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

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	TAG=	insGTAG	insTTAG
GRCh38.p14 chr 2	NC_000002.12:g.38003557_38003559=	NC_000002.12:g.38003559_38003560insGTAG	NC_000002.12:g.38003559_38003560insTTAG
GRCh37.p13 chr 2	NC_000002.11:g.38230700_38230702=	NC_000002.11:g.38230702_38230703insGTAG	NC_000002.11:g.38230702_38230703insTTAG
RMDN2 transcript variant 3	NM_001170791.1:c.1045-434=	NM_001170791.1:c.1045-432_1045-431insGTAG	NM_001170791.1:c.1045-432_1045-431insTTAG
RMDN2 transcript variant 2	NM_001170791.3:c.1045-434=	NM_001170791.3:c.1045-432_1045-431insGTAG	NM_001170791.3:c.1045-432_1045-431insTTAG
RMDN2 transcript variant 2	NM_001170792.1:c.1045-434=	NM_001170792.1:c.1045-432_1045-431insGTAG	NM_001170792.1:c.1045-432_1045-431insTTAG
RMDN2 transcript variant 3	NM_001170792.3:c.1045-434=	NM_001170792.3:c.1045-432_1045-431insGTAG	NM_001170792.3:c.1045-432_1045-431insTTAG
RMDN2 transcript variant 4	NM_001170793.1:c.610-434=	NM_001170793.1:c.610-432_610-431insGTAG	NM_001170793.1:c.610-432_610-431insTTAG
RMDN2 transcript variant 4	NM_001170793.3:c.610-434=	NM_001170793.3:c.610-432_610-431insGTAG	NM_001170793.3:c.610-432_610-431insTTAG
RMDN2 transcript variant 5	NM_001322211.2:c.1045-434=	NM_001322211.2:c.1045-432_1045-431insGTAG	NM_001322211.2:c.1045-432_1045-431insTTAG
RMDN2 transcript variant 6	NM_001322212.2:c.1045-434=	NM_001322212.2:c.1045-432_1045-431insGTAG	NM_001322212.2:c.1045-432_1045-431insTTAG
RMDN2 transcript variant 1	NM_144713.3:c.1579-434=	NM_144713.3:c.1579-432_1579-431insGTAG	NM_144713.3:c.1579-432_1579-431insTTAG
RMDN2 transcript variant 1	NM_144713.5:c.1579-434=	NM_144713.5:c.1579-432_1579-431insGTAG	NM_144713.5:c.1579-432_1579-431insTTAG
RMDN2 transcript variant X1	XM_005264161.1:c.1045-434=	XM_005264161.1:c.1045-432_1045-431insGTAG	XM_005264161.1:c.1045-432_1045-431insTTAG
RMDN2 transcript variant X2	XM_005264162.1:c.610-434=	XM_005264162.1:c.610-432_610-431insGTAG	XM_005264162.1:c.610-432_610-431insTTAG
RMDN2 transcript variant X1	XM_011532614.4:c.1579-434=	XM_011532614.4:c.1579-432_1579-431insGTAG	XM_011532614.4:c.1579-432_1579-431insTTAG
RMDN2 transcript variant X2	XM_011532615.4:c.1579-434=	XM_011532615.4:c.1579-432_1579-431insGTAG	XM_011532615.4:c.1579-432_1579-431insTTAG
RMDN2 transcript variant X5	XM_011532616.3:c.1045-434=	XM_011532616.3:c.1045-432_1045-431insGTAG	XM_011532616.3:c.1045-432_1045-431insTTAG
RMDN2 transcript variant X3	XM_017003474.2:c.1579-434=	XM_017003474.2:c.1579-432_1579-431insGTAG	XM_017003474.2:c.1579-432_1579-431insTTAG
RMDN2 transcript variant X6	XM_017003476.3:c.1045-434=	XM_017003476.3:c.1045-432_1045-431insGTAG	XM_017003476.3:c.1045-432_1045-431insTTAG
RMDN2 transcript variant X7	XM_017003477.3:c.1045-434=	XM_017003477.3:c.1045-432_1045-431insGTAG	XM_017003477.3:c.1045-432_1045-431insTTAG
RMDN2 transcript variant X8	XM_017003478.2:c.1045-434=	XM_017003478.2:c.1045-432_1045-431insGTAG	XM_017003478.2:c.1045-432_1045-431insTTAG
RMDN2 transcript variant X9	XM_047443518.1:c.1045-434=	XM_047443518.1:c.1045-432_1045-431insGTAG	XM_047443518.1:c.1045-432_1045-431insTTAG
RMDN2 transcript variant X10	XM_047443519.1:c.1045-434=	XM_047443519.1:c.1045-432_1045-431insGTAG	XM_047443519.1:c.1045-432_1045-431insTTAG
RMDN2 transcript variant X11	XM_047443520.1:c.610-434=	XM_047443520.1:c.610-432_610-431insGTAG	XM_047443520.1:c.610-432_610-431insTTAG
RMDN2 transcript variant X12	XM_047443521.1:c.610-434=	XM_047443521.1:c.610-432_610-431insGTAG	XM_047443521.1:c.610-432_610-431insTTAG

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, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2772042010	Jan 10, 2018 (151)
2	gnomAD - Genomes	NC_000002.12 - 38003557	Apr 26, 2021 (155)
3	ALFA	NC_000002.12 - 38003557	Apr 26, 2021 (155)

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
ss2772042010	NC_000002.11:38230699::TAGG	NC_000002.12:38003556:TAG:TAGGTAG	(self)
54369219	NC_000002.12:38003556::TAGG	NC_000002.12:38003556:TAG:TAGGTAG	(self)
4369939293	NC_000002.12:38003556:TAG:TAGGTAG	NC_000002.12:38003556:TAG:TAGGTAG	(self)
4369939293	NC_000002.12:38003556:TAG:TAGTTAG	NC_000002.12:38003556:TAG:TAGTTAG	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3304603862	NC_000002.12:38003556::TAGT	NC_000002.12:38003556:TAG:TAGTTAG

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1491218894

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491218894