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dbSNP Short Genetic Variations

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.


Current Build 152

Released October 2, 2018

Homo sapiens
chr2:178740125 (GRCh38.p12) 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.

Variation Type
SNV Single Nucleotide Variation
Clinical Significance
Reported in ClinVar
Gene : Consequence
TTN : Stop Gained
1 citation
Genomic View
See rs on genome

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.p12 chr 2 NC_000002.12:g.178740125G>A
GRCh37.p13 chr 2 NC_000002.11:g.179604852G>A
TTN RefSeqGene (LRG_391) NG_011618.3:g.95678C>T
Gene: TTN, titin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TTN transcript variant N2-A NM_133378.4:c. N/A Intron Variant
TTN transcript variant novex-3 NM_133379.4:c. N/A Genic Downstream Transcript Variant
TTN transcript variant N2-B NM_003319.4:c.12019C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform N2-B NP_003310.4:p.Gln4007Ter Q (Gln) > * (Ter) Stop Gained
TTN transcript variant novex-1 NM_133432.3:c.12394C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform novex-1 NP_597676.3:p.Gln4132Ter Q (Gln) > * (Ter) Stop Gained
TTN transcript variant N2BA NM_001256850.1:c.12157C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform N2BA NP_001243779.1:p.Gln405...


Q (Gln) > * (Ter) Stop Gained
TTN transcript variant IC NM_001267550.2:c.13108C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform IC NP_001254479.2:p.Gln437...


Q (Gln) > * (Ter) Stop Gained
TTN transcript variant novex-2 NM_133437.4:c.12595C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform novex-2 NP_597681.4:p.Gln4199Ter Q (Gln) > * (Ter) Stop Gained
TTN transcript variant X4 XM_017004820.1:c. N/A Intron Variant
TTN transcript variant X5 XM_017004821.1:c. N/A Intron Variant
TTN transcript variant X12 XM_024453100.1:c. N/A Genic Upstream Transcript Variant
TTN transcript variant X1 XM_017004819.1:c.12160C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform X1 XP_016860308.1:p.Gln405...


Q (Gln) > * (Ter) Stop Gained
TTN transcript variant X7 XM_017004822.1:c.12160C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform X7 XP_016860311.1:p.Gln405...


Q (Gln) > * (Ter) Stop Gained
TTN transcript variant X10 XM_017004823.1:c.12160C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform X10 XP_016860312.1:p.Gln405...


Q (Gln) > * (Ter) Stop Gained
TTN transcript variant X2 XM_024453094.1:c.12160C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform X2 XP_024308862.1:p.Gln405...


Q (Gln) > * (Ter) Stop Gained
TTN transcript variant X3 XM_024453095.1:c.12160C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform X3 XP_024308863.1:p.Gln405...


Q (Gln) > * (Ter) Stop Gained
TTN transcript variant X6 XM_024453096.1:c.12160C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform X6 XP_024308864.1:p.Gln405...


Q (Gln) > * (Ter) Stop Gained
TTN transcript variant X8 XM_024453097.1:c.12160C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform X8 XP_024308865.1:p.Gln405...


Q (Gln) > * (Ter) Stop Gained
TTN transcript variant X9 XM_024453098.1:c.12160C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform X9 XP_024308866.1:p.Gln405...


Q (Gln) > * (Ter) Stop Gained
TTN transcript variant X11 XM_024453099.1:c.12160C>T Q [CAG] > * [TAG] Coding Sequence Variant
titin isoform X11 XP_024308867.1:p.Gln405...


Q (Gln) > * (Ter) Stop Gained

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.

Allele: A (allele ID: 27696 )
ClinVar Accession Disease Names Clinical Significance
RCV000013493.18 Dilated cardiomyopathy 1G Pathogenic

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").


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= A Note
GRCh38.p12 chr 2 NC_000002.12:g.178740125G= NC_000002.12:g.17874012...


GRCh37.p13 chr 2 NC_000002.11:g.179604852G= NC_000002.11:g.17960485...


TTN RefSeqGene (LRG_391) NG_011618.3:g.95678C= NG_011618.3:g.95678C>T
TTN transcript variant novex-2 NM_133437.4:c.12595C= NM_133437.4:c.12595C>T
TTN transcript variant novex-2 NM_133437.3:c.12595C= NM_133437.3:c.12595C>T
TTN transcript variant N2-B NM_003319.4:c.12019C= NM_003319.4:c.12019C>T
TTN transcript variant novex-1 NM_133432.3:c.12394C= NM_133432.3:c.12394C>T
TTN transcript variant IC NM_001267550.2:c.13108C= NM_001267550.2:c.13108C>T
TTN transcript variant IC NM_001267550.1:c.13108C= NM_001267550.1:c.13108C>T
TTN transcript variant N2BA NM_001256850.1:c.12157C= NM_001256850.1:c.12157C>T
TTN transcript variant X1 XM_017004819.1:c.12160C= XM_017004819.1:c.12160C>T
TTN transcript variant X2 XM_024453094.1:c.12160C= XM_024453094.1:c.12160C>T
TTN transcript variant X3 XM_024453095.1:c.12160C= XM_024453095.1:c.12160C>T
TTN transcript variant X6 XM_024453096.1:c.12160C= XM_024453096.1:c.12160C>T
TTN transcript variant X7 XM_017004822.1:c.12160C= XM_017004822.1:c.12160C>T
TTN transcript variant X8 XM_024453097.1:c.12160C= XM_024453097.1:c.12160C>T
TTN transcript variant X9 XM_024453098.1:c.12160C= XM_024453098.1:c.12160C>T
TTN transcript variant X10 XM_017004823.1:c.12160C= XM_017004823.1:c.12160C>T
TTN transcript variant X11 XM_024453099.1:c.12160C= XM_024453099.1:c.12160C>T
titin isoform novex-2 NP_597681.4:p.Gln4199= NP_597681.4:p.Gln4199Ter
titin isoform N2-B NP_003310.4:p.Gln4007= NP_003310.4:p.Gln4007Ter
titin isoform novex-1 NP_597676.3:p.Gln4132= NP_597676.3:p.Gln4132Ter
titin isoform IC NP_001254479.2:p.Gln4370= NP_001254479.2:p.Gln437...


titin isoform N2BA NP_001243779.1:p.Gln4053= NP_001243779.1:p.Gln405...


titin isoform X1 XP_016860308.1:p.Gln4054= XP_016860308.1:p.Gln405...


titin isoform X2 XP_024308862.1:p.Gln4054= XP_024308862.1:p.Gln405...


titin isoform X3 XP_024308863.1:p.Gln4054= XP_024308863.1:p.Gln405...


titin isoform X6 XP_024308864.1:p.Gln4054= XP_024308864.1:p.Gln405...


titin isoform X7 XP_016860311.1:p.Gln4054= XP_016860311.1:p.Gln405...


titin isoform X8 XP_024308865.1:p.Gln4054= XP_024308865.1:p.Gln405...


titin isoform X9 XP_024308866.1:p.Gln4054= XP_024308866.1:p.Gln405...


titin isoform X10 XP_016860312.1:p.Gln4054= XP_016860312.1:p.Gln405...


titin isoform X11 XP_024308867.1:p.Gln4054= XP_024308867.1:p.Gln405...



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, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NCBI-CURATED-RECORDS ss537713730 Jan 04, 2013 (137)
2 OMIM-CURATED-RECORDS ss539226003 Oct 15, 2012 (137)
3 ClinVar RCV000013493.18 Oct 11, 2018 (152)

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
RCV000013493.18, ss537713730, ss539226003 NC_000002.12:178740124:G:A NC_000002.12:178740124:G:A (self)

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

1 citation for rs267607158
PMID Title Author Year Journal
11846417 Titin mutations as the molecular basis for dilated cardiomyopathy. Itoh-Satoh M et al. 2002 Biochemical and biophysical research communications

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.post104+4a6ee9c