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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.

rs200797552

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr2:178578078 (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.

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00033 (83/248116, GnomAD_exome)
T=0.00016 (20/125568, TOPMED)
T=0.00027 (32/120358, ExAC) (+ 3 more)
T=0.0000 (1/78686, PAGE_STUDY)
T=0.0001 (2/31366, GnomAD)
T=0.0002 (3/12028, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TTN : Stop Gained
TTN-AS1 : Intron Variant
Publications
2 citations
Genomic View
See rs on genome
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.p12 chr 2 NC_000002.12:g.178578078C>A
GRCh38.p12 chr 2 NC_000002.12:g.178578078C>T
GRCh37.p13 chr 2 NC_000002.11:g.179442805C>A
GRCh37.p13 chr 2 NC_000002.11:g.179442805C>T
TTN RefSeqGene (LRG_391) NG_011618.3:g.257725G>T
TTN RefSeqGene (LRG_391) NG_011618.3:g.257725G>A
TTN-AS1 RefSeqGene NG_051363.1:g.60252C>A
TTN-AS1 RefSeqGene NG_051363.1:g.60252C>T
Gene: TTN, titin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TTN transcript variant novex-3 NM_133379.5:c. N/A Genic Downstream Transcript Variant
TTN transcript variant N2-B NM_003319.4:c.41242G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform N2-B NP_003310.4:p.Glu13748Ter E (Glu) > * (Ter) Stop Gained
TTN transcript variant N2-B NM_003319.4:c.41242G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform N2-B NP_003310.4:p.Glu13748Lys E (Glu) > K (Lys) Missense Variant
TTN transcript variant N2-A NM_133378.4:c.60733G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform N2-A NP_596869.4:p.Glu20245Ter E (Glu) > * (Ter) Stop Gained
TTN transcript variant N2-A NM_133378.4:c.60733G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform N2-A NP_596869.4:p.Glu20245Lys E (Glu) > K (Lys) Missense Variant
TTN transcript variant novex-1 NM_133432.3:c.41617G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform novex-1 NP_597676.3:p.Glu13873Ter E (Glu) > * (Ter) Stop Gained
TTN transcript variant novex-1 NM_133432.3:c.41617G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform novex-1 NP_597676.3:p.Glu13873Lys E (Glu) > K (Lys) Missense Variant
TTN transcript variant N2BA NM_001256850.1:c.63514G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform N2BA NP_001243779.1:p.Glu211...

NP_001243779.1:p.Glu21172Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant N2BA NM_001256850.1:c.63514G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform N2BA NP_001243779.1:p.Glu211...

NP_001243779.1:p.Glu21172Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant IC NM_001267550.2:c.68437G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform IC NP_001254479.2:p.Glu228...

NP_001254479.2:p.Glu22813Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant IC NM_001267550.2:c.68437G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform IC NP_001254479.2:p.Glu228...

NP_001254479.2:p.Glu22813Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant novex-2 NM_133437.4:c.41818G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform novex-2 NP_597681.4:p.Glu13940Ter E (Glu) > * (Ter) Stop Gained
TTN transcript variant novex-2 NM_133437.4:c.41818G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform novex-2 NP_597681.4:p.Glu13940Lys E (Glu) > K (Lys) Missense Variant
TTN transcript variant X1 XM_017004819.1:c.67330G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X1 XP_016860308.1:p.Glu224...

XP_016860308.1:p.Glu22444Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X1 XM_017004819.1:c.67330G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X1 XP_016860308.1:p.Glu224...

XP_016860308.1:p.Glu22444Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X4 XM_017004820.1:c.62728G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X4 XP_016860309.1:p.Glu209...

XP_016860309.1:p.Glu20910Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X4 XM_017004820.1:c.62728G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X4 XP_016860309.1:p.Glu209...

XP_016860309.1:p.Glu20910Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X5 XM_017004821.1:c.62725G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X5 XP_016860310.1:p.Glu209...

XP_016860310.1:p.Glu20909Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X5 XM_017004821.1:c.62725G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X5 XP_016860310.1:p.Glu209...

XP_016860310.1:p.Glu20909Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X7 XM_017004822.1:c.59767G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X7 XP_016860311.1:p.Glu199...

XP_016860311.1:p.Glu19923Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X7 XM_017004822.1:c.59767G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X7 XP_016860311.1:p.Glu199...

XP_016860311.1:p.Glu19923Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X10 XM_017004823.1:c.41383G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X10 XP_016860312.1:p.Glu137...

XP_016860312.1:p.Glu13795Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X10 XM_017004823.1:c.41383G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X10 XP_016860312.1:p.Glu137...

XP_016860312.1:p.Glu13795Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X2 XM_024453094.1:c.62878G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X2 XP_024308862.1:p.Glu209...

XP_024308862.1:p.Glu20960Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X2 XM_024453094.1:c.62878G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X2 XP_024308862.1:p.Glu209...

XP_024308862.1:p.Glu20960Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X3 XM_024453095.1:c.62875G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X3 XP_024308863.1:p.Glu209...

XP_024308863.1:p.Glu20959Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X3 XM_024453095.1:c.62875G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X3 XP_024308863.1:p.Glu209...

XP_024308863.1:p.Glu20959Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X6 XM_024453096.1:c.62308G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X6 XP_024308864.1:p.Glu207...

XP_024308864.1:p.Glu20770Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X6 XM_024453096.1:c.62308G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X6 XP_024308864.1:p.Glu207...

XP_024308864.1:p.Glu20770Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X8 XM_024453097.1:c.59650G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X8 XP_024308865.1:p.Glu198...

XP_024308865.1:p.Glu19884Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X8 XM_024453097.1:c.59650G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X8 XP_024308865.1:p.Glu198...

XP_024308865.1:p.Glu19884Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X9 XM_024453098.1:c.59569G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X9 XP_024308866.1:p.Glu198...

XP_024308866.1:p.Glu19857Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X9 XM_024453098.1:c.59569G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X9 XP_024308866.1:p.Glu198...

XP_024308866.1:p.Glu19857Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X11 XM_024453099.1:c.41332G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X11 XP_024308867.1:p.Glu137...

XP_024308867.1:p.Glu13778Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X11 XM_024453099.1:c.41332G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X11 XP_024308867.1:p.Glu137...

XP_024308867.1:p.Glu13778Lys

E (Glu) > K (Lys) Missense Variant
TTN transcript variant X12 XM_024453100.1:c.31186G>T E [GAA] > * [TAA] Coding Sequence Variant
titin isoform X12 XP_024308868.1:p.Glu103...

XP_024308868.1:p.Glu10396Ter

E (Glu) > * (Ter) Stop Gained
TTN transcript variant X12 XM_024453100.1:c.31186G>A E [GAA] > K [AAA] Coding Sequence Variant
titin isoform X12 XP_024308868.1:p.Glu103...

XP_024308868.1:p.Glu10396Lys

E (Glu) > K (Lys) Missense Variant
Gene: TTN-AS1, TTN antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TTN-AS1 transcript variant 2 NR_038271.1:n. N/A Intron Variant
TTN-AS1 transcript variant 1 NR_038272.1: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.

Allele: A (allele ID: 224232 )
ClinVar Accession Disease Names Clinical Significance
RCV000208381.1 Primary dilated cardiomyopathy Likely-Pathogenic
Allele: T (allele ID: 172829 )
ClinVar Accession Disease Names Clinical Significance
RCV000154926.3 not specified Benign-Likely-Benign
RCV000172272.3 not provided Uncertain-Significance
RCV000234385.3 Dilated cardiomyopathy 1G,Limb-girdle muscular dystrophy, type 2J Uncertain-Significance
RCV000248442.1 Cardiovascular phenotype Uncertain-Significance
RCV000261085.1 Distal myopathy Markesbery-Griggs type Uncertain-Significance
RCV000262197.1 Myopathy, early-onset, with fatal cardiomyopathy Uncertain-Significance
RCV000316255.1 Dilated Cardiomyopathy, Dominant Uncertain-Significance
RCV000322486.1 Hypertrophic cardiomyopathy Uncertain-Significance
RCV000370118.1 Hereditary myopathy with early respiratory failure Uncertain-Significance
RCV000375502.1 Limb-Girdle Muscular Dystrophy, Recessive Uncertain-Significance
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 248116 C=0.99967 T=0.00033
gnomAD - Exomes European Sub 133682 C=0.99996 T=0.00004
gnomAD - Exomes Asian Sub 48446 C=1.0000 T=0.0000
gnomAD - Exomes American Sub 34476 C=1.0000 T=0.0000
gnomAD - Exomes African Sub 15464 C=1.0000 T=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 10040 C=0.9925 T=0.0075
gnomAD - Exomes Other Sub 6008 C=1.000 T=0.000
TopMed Global Study-wide 125568 C=0.99984 T=0.00016
ExAC Global Study-wide 120358 C=0.99973 T=0.00027
ExAC Europe Sub 73186 C=0.9996 T=0.0004
ExAC Asian Sub 24964 C=1.0000 T=0.0000
ExAC American Sub 11516 C=1.0000 T=0.0000
ExAC African Sub 9792 C=1.000 T=0.000
ExAC Other Sub 900 C=1.00 T=0.00
The PAGE Study Global Study-wide 78686 C=1.0000 T=0.0000
The PAGE Study AfricanAmerican Sub 32504 C=1.0000 T=0.0000
The PAGE Study Mexican Sub 10808 C=1.0000 T=0.0000
The PAGE Study Asian Sub 8318 C=1.000 T=0.000
The PAGE Study PuertoRican Sub 7916 C=1.000 T=0.000
The PAGE Study NativeHawaiian Sub 4534 C=1.000 T=0.000
The PAGE Study Cuban Sub 4230 C=1.000 T=0.000
The PAGE Study Dominican Sub 3828 C=1.000 T=0.000
The PAGE Study CentralAmerican Sub 2450 C=1.000 T=0.000
The PAGE Study SouthAmerican Sub 1982 C=1.000 T=0.000
The PAGE Study NativeAmerican Sub 1260 C=0.999 T=0.001
The PAGE Study SouthAsian Sub 856 C=1.00 T=0.00
gnomAD - Genomes Global Study-wide 31366 C=0.9999 T=0.0001
gnomAD - Genomes European Sub 18896 C=0.9999 T=0.0001
gnomAD - Genomes African Sub 8708 C=1.000 T=0.000
gnomAD - Genomes East Asian Sub 1536 C=1.000 T=0.000
gnomAD - Genomes Other Sub 1088 C=1.000 T=0.000
gnomAD - Genomes American Sub 848 C=1.00 T=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 12028 C=0.9998 T=0.0002
GO Exome Sequencing Project European American Sub 8250 C=1.000 T=0.000
GO Exome Sequencing Project African American Sub 3778 C=1.000 T=0.000
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= A T Note
GRCh38.p12 chr 2 NC_000002.12:g.17...

NC_000002.12:g.178578078=

NC_000002.12:g.17...

NC_000002.12:g.178578078C>A

NC_000002.12:g.17...

NC_000002.12:g.178578078C>T

GRCh37.p13 chr 2 NC_000002.11:g.17...

NC_000002.11:g.179442805=

NC_000002.11:g.17...

NC_000002.11:g.179442805C>A

NC_000002.11:g.17...

NC_000002.11:g.179442805C>T

TTN RefSeqGene (LRG_391) NG_011618.3:g.257...

NG_011618.3:g.257725=

NG_011618.3:g.257...

NG_011618.3:g.257725G>T

NG_011618.3:g.257...

NG_011618.3:g.257725G>A

TTN transcript variant N2-A NM_133378.4:c.60733= NM_133378.4:c.607...

NM_133378.4:c.60733G>T

NM_133378.4:c.607...

NM_133378.4:c.60733G>A

TTN transcript variant novex-2 NM_133437.4:c.41818= NM_133437.4:c.418...

NM_133437.4:c.41818G>T

NM_133437.4:c.418...

NM_133437.4:c.41818G>A

TTN transcript variant novex-2 NM_133437.3:c.41818= NM_133437.3:c.418...

NM_133437.3:c.41818G>T

NM_133437.3:c.418...

NM_133437.3:c.41818G>A

TTN transcript variant N2-B NM_003319.4:c.41242= NM_003319.4:c.412...

NM_003319.4:c.41242G>T

NM_003319.4:c.412...

NM_003319.4:c.41242G>A

TTN transcript variant novex-1 NM_133432.3:c.41617= NM_133432.3:c.416...

NM_133432.3:c.41617G>T

NM_133432.3:c.416...

NM_133432.3:c.41617G>A

TTN transcript variant IC NM_001267550.2:c....

NM_001267550.2:c.68437=

NM_001267550.2:c....

NM_001267550.2:c.68437G>T

NM_001267550.2:c....

NM_001267550.2:c.68437G>A

TTN transcript variant IC NM_001267550.1:c....

NM_001267550.1:c.68437=

NM_001267550.1:c....

NM_001267550.1:c.68437G>T

NM_001267550.1:c....

NM_001267550.1:c.68437G>A

TTN transcript variant N2BA NM_001256850.1:c....

NM_001256850.1:c.63514=

NM_001256850.1:c....

NM_001256850.1:c.63514G>T

NM_001256850.1:c....

NM_001256850.1:c.63514G>A

TTN-AS1 RefSeqGene NG_051363.1:g.60252= NG_051363.1:g.602...

NG_051363.1:g.60252C>A

NG_051363.1:g.602...

NG_051363.1:g.60252C>T

TTN transcript variant X1 XM_017004819.1:c....

XM_017004819.1:c.67330=

XM_017004819.1:c....

XM_017004819.1:c.67330G>T

XM_017004819.1:c....

XM_017004819.1:c.67330G>A

TTN transcript variant X2 XM_024453094.1:c....

XM_024453094.1:c.62878=

XM_024453094.1:c....

XM_024453094.1:c.62878G>T

XM_024453094.1:c....

XM_024453094.1:c.62878G>A

TTN transcript variant X3 XM_024453095.1:c....

XM_024453095.1:c.62875=

XM_024453095.1:c....

XM_024453095.1:c.62875G>T

XM_024453095.1:c....

XM_024453095.1:c.62875G>A

TTN transcript variant X4 XM_017004820.1:c....

XM_017004820.1:c.62728=

XM_017004820.1:c....

XM_017004820.1:c.62728G>T

XM_017004820.1:c....

XM_017004820.1:c.62728G>A

TTN transcript variant X5 XM_017004821.1:c....

XM_017004821.1:c.62725=

XM_017004821.1:c....

XM_017004821.1:c.62725G>T

XM_017004821.1:c....

XM_017004821.1:c.62725G>A

TTN transcript variant X6 XM_024453096.1:c....

XM_024453096.1:c.62308=

XM_024453096.1:c....

XM_024453096.1:c.62308G>T

XM_024453096.1:c....

XM_024453096.1:c.62308G>A

TTN transcript variant X7 XM_017004822.1:c....

XM_017004822.1:c.59767=

XM_017004822.1:c....

XM_017004822.1:c.59767G>T

XM_017004822.1:c....

XM_017004822.1:c.59767G>A

TTN transcript variant X8 XM_024453097.1:c....

XM_024453097.1:c.59650=

XM_024453097.1:c....

XM_024453097.1:c.59650G>T

XM_024453097.1:c....

XM_024453097.1:c.59650G>A

TTN transcript variant X9 XM_024453098.1:c....

XM_024453098.1:c.59569=

XM_024453098.1:c....

XM_024453098.1:c.59569G>T

XM_024453098.1:c....

XM_024453098.1:c.59569G>A

TTN transcript variant X10 XM_017004823.1:c....

XM_017004823.1:c.41383=

XM_017004823.1:c....

XM_017004823.1:c.41383G>T

XM_017004823.1:c....

XM_017004823.1:c.41383G>A

TTN transcript variant X11 XM_024453099.1:c....

XM_024453099.1:c.41332=

XM_024453099.1:c....

XM_024453099.1:c.41332G>T

XM_024453099.1:c....

XM_024453099.1:c.41332G>A

TTN transcript variant X12 XM_024453100.1:c....

XM_024453100.1:c.31186=

XM_024453100.1:c....

XM_024453100.1:c.31186G>T

XM_024453100.1:c....

XM_024453100.1:c.31186G>A

titin isoform N2-A NP_596869.4:p.Glu...

NP_596869.4:p.Glu20245=

NP_596869.4:p.Glu...

NP_596869.4:p.Glu20245Ter

NP_596869.4:p.Glu...

NP_596869.4:p.Glu20245Lys

titin isoform novex-2 NP_597681.4:p.Glu...

NP_597681.4:p.Glu13940=

NP_597681.4:p.Glu...

NP_597681.4:p.Glu13940Ter

NP_597681.4:p.Glu...

NP_597681.4:p.Glu13940Lys

titin isoform N2-B NP_003310.4:p.Glu...

NP_003310.4:p.Glu13748=

NP_003310.4:p.Glu...

NP_003310.4:p.Glu13748Ter

NP_003310.4:p.Glu...

NP_003310.4:p.Glu13748Lys

titin isoform novex-1 NP_597676.3:p.Glu...

NP_597676.3:p.Glu13873=

NP_597676.3:p.Glu...

NP_597676.3:p.Glu13873Ter

NP_597676.3:p.Glu...

NP_597676.3:p.Glu13873Lys

titin isoform IC NP_001254479.2:p....

NP_001254479.2:p.Glu22813=

NP_001254479.2:p....

NP_001254479.2:p.Glu22813Ter

NP_001254479.2:p....

NP_001254479.2:p.Glu22813Lys

titin isoform N2BA NP_001243779.1:p....

NP_001243779.1:p.Glu21172=

NP_001243779.1:p....

NP_001243779.1:p.Glu21172Ter

NP_001243779.1:p....

NP_001243779.1:p.Glu21172Lys

titin isoform X1 XP_016860308.1:p....

XP_016860308.1:p.Glu22444=

XP_016860308.1:p....

XP_016860308.1:p.Glu22444Ter

XP_016860308.1:p....

XP_016860308.1:p.Glu22444Lys

titin isoform X2 XP_024308862.1:p....

XP_024308862.1:p.Glu20960=

XP_024308862.1:p....

XP_024308862.1:p.Glu20960Ter

XP_024308862.1:p....

XP_024308862.1:p.Glu20960Lys

titin isoform X3 XP_024308863.1:p....

XP_024308863.1:p.Glu20959=

XP_024308863.1:p....

XP_024308863.1:p.Glu20959Ter

XP_024308863.1:p....

XP_024308863.1:p.Glu20959Lys

titin isoform X4 XP_016860309.1:p....

XP_016860309.1:p.Glu20910=

XP_016860309.1:p....

XP_016860309.1:p.Glu20910Ter

XP_016860309.1:p....

XP_016860309.1:p.Glu20910Lys

titin isoform X5 XP_016860310.1:p....

XP_016860310.1:p.Glu20909=

XP_016860310.1:p....

XP_016860310.1:p.Glu20909Ter

XP_016860310.1:p....

XP_016860310.1:p.Glu20909Lys

titin isoform X6 XP_024308864.1:p....

XP_024308864.1:p.Glu20770=

XP_024308864.1:p....

XP_024308864.1:p.Glu20770Ter

XP_024308864.1:p....

XP_024308864.1:p.Glu20770Lys

titin isoform X7 XP_016860311.1:p....

XP_016860311.1:p.Glu19923=

XP_016860311.1:p....

XP_016860311.1:p.Glu19923Ter

XP_016860311.1:p....

XP_016860311.1:p.Glu19923Lys

titin isoform X8 XP_024308865.1:p....

XP_024308865.1:p.Glu19884=

XP_024308865.1:p....

XP_024308865.1:p.Glu19884Ter

XP_024308865.1:p....

XP_024308865.1:p.Glu19884Lys

titin isoform X9 XP_024308866.1:p....

XP_024308866.1:p.Glu19857=

XP_024308866.1:p....

XP_024308866.1:p.Glu19857Ter

XP_024308866.1:p....

XP_024308866.1:p.Glu19857Lys

titin isoform X10 XP_016860312.1:p....

XP_016860312.1:p.Glu13795=

XP_016860312.1:p....

XP_016860312.1:p.Glu13795Ter

XP_016860312.1:p....

XP_016860312.1:p.Glu13795Lys

titin isoform X11 XP_024308867.1:p....

XP_024308867.1:p.Glu13778=

XP_024308867.1:p....

XP_024308867.1:p.Glu13778Ter

XP_024308867.1:p....

XP_024308867.1:p.Glu13778Lys

titin isoform X12 XP_024308868.1:p....

XP_024308868.1:p.Glu10396=

XP_024308868.1:p....

XP_024308868.1:p.Glu10396Ter

XP_024308868.1:p....

XP_024308868.1:p.Glu10396Lys

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#.

14 SubSNP, 6 Frequency, 11 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINSEQ_SNP ss491795597 May 04, 2012 (137)
2 NHLBI-ESP ss712457616 Apr 25, 2013 (138)
3 EVA_EXAC ss1686620836 Apr 01, 2015 (144)
4 ILLUMINA ss1958483655 Feb 12, 2016 (147)
5 CLINVAR ss2137495233 Feb 23, 2017 (149)
6 HUMAN_LONGEVITY ss2236974616 Dec 20, 2016 (150)
7 GNOMAD ss2733151809 Nov 08, 2017 (151)
8 GNOMAD ss2746827489 Nov 08, 2017 (151)
9 GNOMAD ss2783363696 Nov 08, 2017 (151)
10 ILLUMINA ss3022045521 Nov 08, 2017 (151)
11 TOPMED ss3331524042 Nov 08, 2017 (151)
12 ILLUMINA ss3652490223 Oct 11, 2018 (152)
13 ILLUMINA ss3725850238 Jul 13, 2019 (153)
14 PAGE_CC ss3770968604 Jul 13, 2019 (153)
15 ExAC NC_000002.11 - 179442805 Oct 11, 2018 (152)
16 gnomAD - Genomes NC_000002.11 - 179442805 Jul 13, 2019 (153)
17 gnomAD - Exomes NC_000002.11 - 179442805 Jul 13, 2019 (153)
18 GO Exome Sequencing Project NC_000002.11 - 179442805 Oct 11, 2018 (152)
19 The PAGE Study NC_000002.12 - 178578078 Jul 13, 2019 (153)
20 TopMed NC_000002.12 - 178578078 Oct 11, 2018 (152)
21 ClinVar RCV000154926.3 Oct 11, 2018 (152)
22 ClinVar RCV000172272.3 Oct 11, 2018 (152)
23 ClinVar RCV000208381.1 Oct 11, 2018 (152)
24 ClinVar RCV000234385.3 Oct 11, 2018 (152)
25 ClinVar RCV000248442.1 Oct 11, 2018 (152)
26 ClinVar RCV000261085.1 Oct 11, 2018 (152)
27 ClinVar RCV000262197.1 Oct 11, 2018 (152)
28 ClinVar RCV000316255.1 Oct 11, 2018 (152)
29 ClinVar RCV000322486.1 Oct 11, 2018 (152)
30 ClinVar RCV000370118.1 Oct 11, 2018 (152)
31 ClinVar RCV000375502.1 Oct 11, 2018 (152)
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
RCV000208381.1, ss2137495233 NC_000002.12:178578077:C:A NC_000002.12:178578077:C:A (self)
ss491795597 NC_000002.10:179151050:C:T NC_000002.12:178578077:C:T (self)
6516205, 31935851, 2212680, 289950, ss712457616, ss1686620836, ss1958483655, ss2733151809, ss2746827489, ss2783363696, ss3022045521, ss3652490223 NC_000002.11:179442804:C:T NC_000002.12:178578077:C:T (self)
RCV000154926.3, RCV000172272.3, RCV000234385.3, RCV000248442.1, RCV000261085.1, RCV000262197.1, RCV000316255.1, RCV000322486.1, RCV000370118.1, RCV000375502.1, 190073, 211703660, ss2236974616, ss3331524042, ss3725850238, ss3770968604 NC_000002.12:178578077:C:T NC_000002.12:178578077:C:T (self)
Help

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

2 citations for rs200797552
PMID Title Author Year Journal
23861362 Interpreting secondary cardiac disease variants in an exome cohort. Ng D et al. 2013 Circulation. Cardiovascular genetics
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics

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.post246+3cda961