Name: rs201749277
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.

rs201749277

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:237718495 (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>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.000259 (31/119766, ALFA)
A=0.00011 (9/78664, PAGE_STUDY)
T=0.00007 (2/28256, 14KJPN) (+ 4 more)
T=0.00006 (1/16760, 8.3KJPN)
A=0.00008 (1/11860, GO-ESP)
A=0.0000 (0/3854, ALSPAC)
A=0.0005 (2/3708, TWINSUK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: RYR2 : Missense Variant
Publications: 2 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	119884	C=0.999716	A=0.000259, T=0.000025
European	Sub	101730	C=0.999685	A=0.000285, T=0.000029
African	Sub	4118	C=1.0000	A=0.0000, T=0.0000
African Others	Sub	124	C=1.000	A=0.000, T=0.000
African American	Sub	3994	C=1.0000	A=0.0000, T=0.0000
Asian	Sub	232	C=1.000	A=0.000, T=0.000
East Asian	Sub	150	C=1.000	A=0.000, T=0.000
Other Asian	Sub	82	C=1.00	A=0.00, T=0.00
Latin American 1	Sub	506	C=1.000	A=0.000, T=0.000
Latin American 2	Sub	650	C=1.000	A=0.000, T=0.000
South Asian	Sub	104	C=1.000	A=0.000, T=0.000
Other	Sub	12544	C=0.99984	A=0.00016, T=0.00000

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
Allele Frequency Aggregator	Total	Global	119766	C=0.999716	A=0.000259, T=0.000025
Allele Frequency Aggregator	European	Sub	101630	C=0.999685	A=0.000285, T=0.000030
Allele Frequency Aggregator	Other	Sub	12540	C=0.99984	A=0.00016, T=0.00000
Allele Frequency Aggregator	African	Sub	4104	C=1.0000	A=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	650	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	506	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	232	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	104	C=1.000	A=0.000, T=0.000
The PAGE Study	Global	Study-wide	78664	C=0.99989	A=0.00011
The PAGE Study	AfricanAmerican	Sub	32506	C=0.99988	A=0.00012
The PAGE Study	Mexican	Sub	10798	C=1.00000	A=0.00000
The PAGE Study	Asian	Sub	8314	C=1.0000	A=0.0000
The PAGE Study	PuertoRican	Sub	7916	C=1.0000	A=0.0000
The PAGE Study	NativeHawaiian	Sub	4528	C=0.9998	A=0.0002
The PAGE Study	Cuban	Sub	4226	C=1.0000	A=0.0000
The PAGE Study	Dominican	Sub	3828	C=0.9995	A=0.0005
The PAGE Study	CentralAmerican	Sub	2450	C=0.9996	A=0.0004
The PAGE Study	SouthAmerican	Sub	1982	C=1.0000	A=0.0000
The PAGE Study	NativeAmerican	Sub	1260	C=1.0000	A=0.0000
The PAGE Study	SouthAsian	Sub	856	C=0.999	A=0.001
14KJPN	JAPANESE	Study-wide	28256	C=0.99993	T=0.00007
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99994	T=0.00006
GO Exome Sequencing Project	Global	Study-wide	11860	C=0.99992	A=0.00008
GO Exome Sequencing Project	European American	Sub	8168	C=0.9999	A=0.0001
GO Exome Sequencing Project	African American	Sub	3692	C=1.0000	A=0.0000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=1.0000	A=0.0000
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9995	A=0.0005

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 1	NC_000001.11:g.237718495C>A
GRCh38.p14 chr 1	NC_000001.11:g.237718495C>T
GRCh37.p13 chr 1	NC_000001.10:g.237881795C>A
GRCh37.p13 chr 1	NC_000001.10:g.237881795C>T
RYR2 RefSeqGene (LRG_402)	NG_008799.3:g.681312C>A
RYR2 RefSeqGene (LRG_402)	NG_008799.3:g.681312C>T

Gene: RYR2, ryanodine receptor 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RYR2 transcript	NM_001035.3:c.10528C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2	NP_001026.2:p.Arg3510Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript	NM_001035.3:c.10528C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2	NP_001026.2:p.Arg3510Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X1	XM_006711802.4:c.10558C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X1	XP_006711865.1:p.Arg3520S… XP_006711865.1:p.Arg3520Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X1	XM_006711802.4:c.10558C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X1	XP_006711865.1:p.Arg3520C… XP_006711865.1:p.Arg3520Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X2	XM_006711803.4:c.10555C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X2	XP_006711866.1:p.Arg3519S… XP_006711866.1:p.Arg3519Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X2	XM_006711803.4:c.10555C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X2	XP_006711866.1:p.Arg3519C… XP_006711866.1:p.Arg3519Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X3	XM_017002028.2:c.10537C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X3	XP_016857517.1:p.Arg3513S… XP_016857517.1:p.Arg3513Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X3	XM_017002028.2:c.10537C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X3	XP_016857517.1:p.Arg3513C… XP_016857517.1:p.Arg3513Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X4	XM_006711804.4:c.10558C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X4	XP_006711867.1:p.Arg3520S… XP_006711867.1:p.Arg3520Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X4	XM_006711804.4:c.10558C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X4	XP_006711867.1:p.Arg3520C… XP_006711867.1:p.Arg3520Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X5	XM_006711805.4:c.10528C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X5	XP_006711868.1:p.Arg3510S… XP_006711868.1:p.Arg3510Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X5	XM_006711805.4:c.10528C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X5	XP_006711868.1:p.Arg3510C… XP_006711868.1:p.Arg3510Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X6	XM_047427317.1:c.10525C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X6	XP_047283273.1:p.Arg3509S… XP_047283273.1:p.Arg3509Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X6	XM_047427317.1:c.10525C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X6	XP_047283273.1:p.Arg3509C… XP_047283273.1:p.Arg3509Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X7	XM_006711806.4:c.10558C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X7	XP_006711869.1:p.Arg3520S… XP_006711869.1:p.Arg3520Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X7	XM_006711806.4:c.10558C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X7	XP_006711869.1:p.Arg3520C… XP_006711869.1:p.Arg3520Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X8	XM_006711807.4:c.10558C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X8	XP_006711870.1:p.Arg3520S… XP_006711870.1:p.Arg3520Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X8	XM_006711807.4:c.10558C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X8	XP_006711870.1:p.Arg3520C… XP_006711870.1:p.Arg3520Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X9	XM_006711808.4:c.10321C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X9	XP_006711871.1:p.Arg3441S… XP_006711871.1:p.Arg3441Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X9	XM_006711808.4:c.10321C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X9	XP_006711871.1:p.Arg3441C… XP_006711871.1:p.Arg3441Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X10	XM_047427329.1:c.10291C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X10	XP_047283285.1:p.Arg3431S… XP_047283285.1:p.Arg3431Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X10	XM_047427329.1:c.10291C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X10	XP_047283285.1:p.Arg3431C… XP_047283285.1:p.Arg3431Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X11	XM_047427333.1:c.10321C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X11	XP_047283289.1:p.Arg3441S… XP_047283289.1:p.Arg3441Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X11	XM_047427333.1:c.10321C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X11	XP_047283289.1:p.Arg3441C… XP_047283289.1:p.Arg3441Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X12	XM_047427336.1:c.10321C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X12	XP_047283292.1:p.Arg3441S… XP_047283292.1:p.Arg3441Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X12	XM_047427336.1:c.10321C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X12	XP_047283292.1:p.Arg3441C… XP_047283292.1:p.Arg3441Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X13	XM_047427337.1:c.10291C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X13	XP_047283293.1:p.Arg3431S… XP_047283293.1:p.Arg3431Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X13	XM_047427337.1:c.10291C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X13	XP_047283293.1:p.Arg3431C… XP_047283293.1:p.Arg3431Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X14	XM_047427341.1:c.10291C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X14	XP_047283297.1:p.Arg3431S… XP_047283297.1:p.Arg3431Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X14	XM_047427341.1:c.10291C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X14	XP_047283297.1:p.Arg3431C… XP_047283297.1:p.Arg3431Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X17	XM_006711810.4:c.10525C>A	R [CGC] > S [AGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X15	XP_006711873.1:p.Arg3509S… XP_006711873.1:p.Arg3509Ser	R (Arg) > S (Ser)	Missense Variant
RYR2 transcript variant X17	XM_006711810.4:c.10525C>T	R [CGC] > C [TGC]	Coding Sequence Variant
ryanodine receptor 2 isoform X15	XP_006711873.1:p.Arg3509C… XP_006711873.1:p.Arg3509Cys	R (Arg) > C (Cys)	Missense Variant
RYR2 transcript variant X16	XR_002957299.2:n.	N/A	Genic Downstream Transcript Variant
RYR2 transcript variant X15	XR_007062490.1:n.	N/A	Genic Downstream Transcript 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.

Allele: A (allele ID: 196669 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000182786.8	not specified	Uncertain-Significance
RCV000459970.3	Catecholaminergic polymorphic ventricular tachycardia	Uncertain-Significance
RCV000766726.2	not provided	Uncertain-Significance
RCV000769799.4	Cardiomyopathy	Uncertain-Significance

Allele: T (allele ID: 172567 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000156034.6	not specified	Uncertain-Significance
RCV000171683.6	not provided	Uncertain-Significance
RCV000554677.6	Catecholaminergic polymorphic ventricular tachycardia	Uncertain-Significance
RCV001190192.3	Cardiomyopathy	Uncertain-Significance

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
GRCh38.p14 chr 1	NC_000001.11:g.237718495=	NC_000001.11:g.237718495C>A	NC_000001.11:g.237718495C>T
GRCh37.p13 chr 1	NC_000001.10:g.237881795=	NC_000001.10:g.237881795C>A	NC_000001.10:g.237881795C>T
RYR2 RefSeqGene (LRG_402)	NG_008799.3:g.681312=	NG_008799.3:g.681312C>A	NG_008799.3:g.681312C>T
RYR2 transcript	NM_001035.3:c.10528=	NM_001035.3:c.10528C>A	NM_001035.3:c.10528C>T
RYR2 transcript	NM_001035.2:c.10528=	NM_001035.2:c.10528C>A	NM_001035.2:c.10528C>T
RYR2 transcript variant X1	XM_006711802.4:c.10558=	XM_006711802.4:c.10558C>A	XM_006711802.4:c.10558C>T
RYR2 transcript variant X1	XM_006711802.3:c.10558=	XM_006711802.3:c.10558C>A	XM_006711802.3:c.10558C>T
RYR2 transcript variant X1	XM_006711802.2:c.10558=	XM_006711802.2:c.10558C>A	XM_006711802.2:c.10558C>T
RYR2 transcript variant X1	XM_006711802.1:c.10558=	XM_006711802.1:c.10558C>A	XM_006711802.1:c.10558C>T
RYR2 transcript variant X2	XM_006711803.4:c.10555=	XM_006711803.4:c.10555C>A	XM_006711803.4:c.10555C>T
RYR2 transcript variant X2	XM_006711803.3:c.10555=	XM_006711803.3:c.10555C>A	XM_006711803.3:c.10555C>T
RYR2 transcript variant X2	XM_006711803.2:c.10555=	XM_006711803.2:c.10555C>A	XM_006711803.2:c.10555C>T
RYR2 transcript variant X2	XM_006711803.1:c.10555=	XM_006711803.1:c.10555C>A	XM_006711803.1:c.10555C>T
RYR2 transcript variant X4	XM_006711804.4:c.10558=	XM_006711804.4:c.10558C>A	XM_006711804.4:c.10558C>T
RYR2 transcript variant X4	XM_006711804.3:c.10558=	XM_006711804.3:c.10558C>A	XM_006711804.3:c.10558C>T
RYR2 transcript variant X3	XM_006711804.2:c.10558=	XM_006711804.2:c.10558C>A	XM_006711804.2:c.10558C>T
RYR2 transcript variant X3	XM_006711804.1:c.10558=	XM_006711804.1:c.10558C>A	XM_006711804.1:c.10558C>T
RYR2 transcript variant X5	XM_006711805.4:c.10528=	XM_006711805.4:c.10528C>A	XM_006711805.4:c.10528C>T
RYR2 transcript variant X5	XM_006711805.3:c.10528=	XM_006711805.3:c.10528C>A	XM_006711805.3:c.10528C>T
RYR2 transcript variant X4	XM_006711805.2:c.10528=	XM_006711805.2:c.10528C>A	XM_006711805.2:c.10528C>T
RYR2 transcript variant X4	XM_006711805.1:c.10528=	XM_006711805.1:c.10528C>A	XM_006711805.1:c.10528C>T
RYR2 transcript variant X7	XM_006711806.4:c.10558=	XM_006711806.4:c.10558C>A	XM_006711806.4:c.10558C>T
RYR2 transcript variant X6	XM_006711806.3:c.10558=	XM_006711806.3:c.10558C>A	XM_006711806.3:c.10558C>T
RYR2 transcript variant X5	XM_006711806.2:c.10558=	XM_006711806.2:c.10558C>A	XM_006711806.2:c.10558C>T
RYR2 transcript variant X5	XM_006711806.1:c.10558=	XM_006711806.1:c.10558C>A	XM_006711806.1:c.10558C>T
RYR2 transcript variant X8	XM_006711807.4:c.10558=	XM_006711807.4:c.10558C>A	XM_006711807.4:c.10558C>T
RYR2 transcript variant X7	XM_006711807.3:c.10558=	XM_006711807.3:c.10558C>A	XM_006711807.3:c.10558C>T
RYR2 transcript variant X6	XM_006711807.2:c.10558=	XM_006711807.2:c.10558C>A	XM_006711807.2:c.10558C>T
RYR2 transcript variant X6	XM_006711807.1:c.10558=	XM_006711807.1:c.10558C>A	XM_006711807.1:c.10558C>T
RYR2 transcript variant X17	XM_006711810.4:c.10525=	XM_006711810.4:c.10525C>A	XM_006711810.4:c.10525C>T
RYR2 transcript variant X11	XM_006711810.3:c.10525=	XM_006711810.3:c.10525C>A	XM_006711810.3:c.10525C>T
RYR2 transcript variant X10	XM_006711810.2:c.10525=	XM_006711810.2:c.10525C>A	XM_006711810.2:c.10525C>T
RYR2 transcript variant X9	XM_006711810.1:c.10525=	XM_006711810.1:c.10525C>A	XM_006711810.1:c.10525C>T
RYR2 transcript variant X9	XM_006711808.4:c.10321=	XM_006711808.4:c.10321C>A	XM_006711808.4:c.10321C>T
RYR2 transcript variant X8	XM_006711808.3:c.10321=	XM_006711808.3:c.10321C>A	XM_006711808.3:c.10321C>T
RYR2 transcript variant X7	XM_006711808.2:c.10321=	XM_006711808.2:c.10321C>A	XM_006711808.2:c.10321C>T
RYR2 transcript variant X7	XM_006711808.1:c.10321=	XM_006711808.1:c.10321C>A	XM_006711808.1:c.10321C>T
RYR2 transcript variant X3	XM_017002028.2:c.10537=	XM_017002028.2:c.10537C>A	XM_017002028.2:c.10537C>T
RYR2 transcript variant X3	XM_017002028.1:c.10537=	XM_017002028.1:c.10537C>A	XM_017002028.1:c.10537C>T
RYR2 transcript variant X6	XM_047427317.1:c.10525=	XM_047427317.1:c.10525C>A	XM_047427317.1:c.10525C>T
RYR2 transcript variant X10	XM_047427329.1:c.10291=	XM_047427329.1:c.10291C>A	XM_047427329.1:c.10291C>T
RYR2 transcript variant X11	XM_047427333.1:c.10321=	XM_047427333.1:c.10321C>A	XM_047427333.1:c.10321C>T
RYR2 transcript variant X12	XM_047427336.1:c.10321=	XM_047427336.1:c.10321C>A	XM_047427336.1:c.10321C>T
RYR2 transcript variant X13	XM_047427337.1:c.10291=	XM_047427337.1:c.10291C>A	XM_047427337.1:c.10291C>T
RYR2 transcript variant X14	XM_047427341.1:c.10291=	XM_047427341.1:c.10291C>A	XM_047427341.1:c.10291C>T
ryanodine receptor 2	NP_001026.2:p.Arg3510=	NP_001026.2:p.Arg3510Ser	NP_001026.2:p.Arg3510Cys
ryanodine receptor 2 isoform X1	XP_006711865.1:p.Arg3520=	XP_006711865.1:p.Arg3520Ser	XP_006711865.1:p.Arg3520Cys
ryanodine receptor 2 isoform X2	XP_006711866.1:p.Arg3519=	XP_006711866.1:p.Arg3519Ser	XP_006711866.1:p.Arg3519Cys
ryanodine receptor 2 isoform X4	XP_006711867.1:p.Arg3520=	XP_006711867.1:p.Arg3520Ser	XP_006711867.1:p.Arg3520Cys
ryanodine receptor 2 isoform X5	XP_006711868.1:p.Arg3510=	XP_006711868.1:p.Arg3510Ser	XP_006711868.1:p.Arg3510Cys
ryanodine receptor 2 isoform X7	XP_006711869.1:p.Arg3520=	XP_006711869.1:p.Arg3520Ser	XP_006711869.1:p.Arg3520Cys
ryanodine receptor 2 isoform X8	XP_006711870.1:p.Arg3520=	XP_006711870.1:p.Arg3520Ser	XP_006711870.1:p.Arg3520Cys
ryanodine receptor 2 isoform X15	XP_006711873.1:p.Arg3509=	XP_006711873.1:p.Arg3509Ser	XP_006711873.1:p.Arg3509Cys
ryanodine receptor 2 isoform X9	XP_006711871.1:p.Arg3441=	XP_006711871.1:p.Arg3441Ser	XP_006711871.1:p.Arg3441Cys
ryanodine receptor 2 isoform X3	XP_016857517.1:p.Arg3513=	XP_016857517.1:p.Arg3513Ser	XP_016857517.1:p.Arg3513Cys
ryanodine receptor 2 isoform X6	XP_047283273.1:p.Arg3509=	XP_047283273.1:p.Arg3509Ser	XP_047283273.1:p.Arg3509Cys
ryanodine receptor 2 isoform X10	XP_047283285.1:p.Arg3431=	XP_047283285.1:p.Arg3431Ser	XP_047283285.1:p.Arg3431Cys
ryanodine receptor 2 isoform X11	XP_047283289.1:p.Arg3441=	XP_047283289.1:p.Arg3441Ser	XP_047283289.1:p.Arg3441Cys
ryanodine receptor 2 isoform X12	XP_047283292.1:p.Arg3441=	XP_047283292.1:p.Arg3441Ser	XP_047283292.1:p.Arg3441Cys
ryanodine receptor 2 isoform X13	XP_047283293.1:p.Arg3431=	XP_047283293.1:p.Arg3431Ser	XP_047283293.1:p.Arg3431Cys
ryanodine receptor 2 isoform X14	XP_047283297.1:p.Arg3431=	XP_047283297.1:p.Arg3431Ser	XP_047283297.1:p.Arg3431Cys

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#.

39 SubSNP, 15 Frequency, 8 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	EXOME_CHIP	ss491313186	May 04, 2012 (137)
2	CLINSEQ_SNP	ss491618415	May 04, 2012 (137)
3	NHLBI-ESP	ss712380229	Apr 25, 2013 (138)
4	ILLUMINA	ss780764908	Sep 08, 2015 (146)
5	ILLUMINA	ss783444193	Sep 08, 2015 (146)
6	CLINVAR	ss1558295240	Feb 26, 2015 (142)
7	EVA_UK10K_ALSPAC	ss1602455887	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1645449920	Apr 01, 2015 (144)
9	EVA_EXAC	ss1686133507	Apr 01, 2015 (144)
10	EVA_EXAC	ss1686133508	Apr 01, 2015 (144)
11	ILLUMINA	ss1751907721	Sep 08, 2015 (146)
12	ILLUMINA	ss1917744535	Feb 12, 2016 (147)
13	ILLUMINA	ss1946028074	Feb 12, 2016 (147)
14	ILLUMINA	ss1958371692	Feb 12, 2016 (147)
15	JJLAB	ss2020289133	Sep 14, 2016 (149)
16	HUMAN_LONGEVITY	ss2171298208	Dec 20, 2016 (150)
17	GNOMAD	ss2732396394	Nov 08, 2017 (151)
18	GNOMAD	ss2746598995	Nov 08, 2017 (151)
19	GNOMAD	ss2767876126	Nov 08, 2017 (151)
20	AFFY	ss2984899357	Nov 08, 2017 (151)
21	ILLUMINA	ss3021196058	Nov 08, 2017 (151)
22	ILLUMINA	ss3626344288	Oct 11, 2018 (152)
23	ILLUMINA	ss3634381104	Oct 11, 2018 (152)
24	ILLUMINA	ss3640088457	Oct 11, 2018 (152)
25	ILLUMINA	ss3644524077	Oct 11, 2018 (152)
26	ILLUMINA	ss3651542045	Oct 11, 2018 (152)
27	ILLUMINA	ss3725119853	Jul 12, 2019 (153)
28	ILLUMINA	ss3744362397	Jul 12, 2019 (153)
29	ILLUMINA	ss3744682009	Jul 12, 2019 (153)
30	PAGE_CC	ss3770883331	Jul 12, 2019 (153)
31	ILLUMINA	ss3772182782	Jul 12, 2019 (153)
32	EVA	ss3823732574	Apr 25, 2020 (154)
33	TOPMED	ss4488672642	Apr 25, 2021 (155)
34	TOPMED	ss4488672643	Apr 25, 2021 (155)
35	TOMMO_GENOMICS	ss5149109536	Apr 25, 2021 (155)
36	EVA	ss5314694985	Oct 17, 2022 (156)
37	TOMMO_GENOMICS	ss5677067353	Oct 17, 2022 (156)
38	EVA	ss5847580269	Oct 17, 2022 (156)
39	EVA	ss5939592258	Oct 17, 2022 (156)
40	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 237881795	Oct 11, 2018 (152)
41	ExAC Submission ignored due to conflicting rows: Row 5376000 (NC_000001.10:237881794:C:C 119694/119698, NC_000001.10:237881794:C:A 4/119698) Row 5376001 (NC_000001.10:237881794:C:C 119696/119698, NC_000001.10:237881794:C:T 2/119698)	-	Oct 11, 2018 (152)
42	ExAC Submission ignored due to conflicting rows: Row 5376000 (NC_000001.10:237881794:C:C 119694/119698, NC_000001.10:237881794:C:A 4/119698) Row 5376001 (NC_000001.10:237881794:C:C 119696/119698, NC_000001.10:237881794:C:T 2/119698)	-	Oct 11, 2018 (152)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43798592 (NC_000001.11:237718494:C:A 10/140064) Row 43798593 (NC_000001.11:237718494:C:T 10/140064)	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 43798592 (NC_000001.11:237718494:C:A 10/140064) Row 43798593 (NC_000001.11:237718494:C:T 10/140064)	-	Apr 25, 2021 (155)
45	gnomAD - Exomes Submission ignored due to conflicting rows: Row 1435062 (NC_000001.10:237881794:C:C 248186/248194, NC_000001.10:237881794:C:A 8/248194) Row 1435063 (NC_000001.10:237881794:C:C 248177/248194, NC_000001.10:237881794:C:T 17/248194)	-	Jul 12, 2019 (153)
46	gnomAD - Exomes Submission ignored due to conflicting rows: Row 1435062 (NC_000001.10:237881794:C:C 248186/248194, NC_000001.10:237881794:C:A 8/248194) Row 1435063 (NC_000001.10:237881794:C:C 248177/248194, NC_000001.10:237881794:C:T 17/248194)	-	Jul 12, 2019 (153)
47	GO Exome Sequencing Project	NC_000001.10 - 237881795	Oct 11, 2018 (152)
48	The PAGE Study	NC_000001.11 - 237718495	Jul 12, 2019 (153)
49	8.3KJPN	NC_000001.10 - 237881795	Apr 25, 2021 (155)
50	14KJPN	NC_000001.11 - 237718495	Oct 17, 2022 (156)
51	TopMed Submission ignored due to conflicting rows: Row 52278977 (NC_000001.11:237718494:C:A 14/264690) Row 52278978 (NC_000001.11:237718494:C:T 23/264690)	-	Apr 25, 2021 (155)
52	TopMed Submission ignored due to conflicting rows: Row 52278977 (NC_000001.11:237718494:C:A 14/264690) Row 52278978 (NC_000001.11:237718494:C:T 23/264690)	-	Apr 25, 2021 (155)
53	UK 10K study - Twins	NC_000001.10 - 237881795	Oct 11, 2018 (152)
54	ALFA	NC_000001.11 - 237718495	Apr 25, 2021 (155)
55	ClinVar	RCV000156034.6	Oct 17, 2022 (156)
56	ClinVar	RCV000171683.6	Oct 17, 2022 (156)
57	ClinVar	RCV000182786.8	Oct 17, 2022 (156)
58	ClinVar	RCV000459970.3	Oct 17, 2022 (156)
59	ClinVar	RCV000554677.6	Oct 17, 2022 (156)
60	ClinVar	RCV000766726.2	Oct 17, 2022 (156)
61	ClinVar	RCV000769799.4	Oct 17, 2022 (156)
62	ClinVar	RCV001190192.3	Oct 17, 2022 (156)

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
3386801, 191076, 3386801, ss491313186, ss712380229, ss780764908, ss783444193, ss1602455887, ss1645449920, ss1686133507, ss1751907721, ss1917744535, ss1946028074, ss1958371692, ss2020289133, ss2732396394, ss2746598995, ss2767876126, ss3021196058, ss3626344288, ss3634381104, ss3640088457, ss3644524077, ss3651542045, ss3744362397, ss3744682009, ss3772182782, ss3823732574, ss5314694985, ss5847580269, ss5939592258	NC_000001.10:237881794:C:A	NC_000001.11:237718494:C:A	(self)
RCV000182786.8, RCV000459970.3, RCV000766726.2, RCV000769799.4, 104800, 5815049827, ss2171298208, ss3725119853, ss3770883331, ss4488672642	NC_000001.11:237718494:C:A	NC_000001.11:237718494:C:A	(self)
ss491618415	NC_000001.9:235948417:C:T	NC_000001.11:237718494:C:T	(self)
7078843, ss1686133508, ss2732396394, ss2746598995, ss2767876126, ss2984899357, ss5149109536	NC_000001.10:237881794:C:T	NC_000001.11:237718494:C:T	(self)
RCV000156034.6, RCV000171683.6, RCV000554677.6, RCV001190192.3, 10904457, 5815049827, ss1558295240, ss2171298208, ss4488672643, ss5677067353	NC_000001.11:237718494:C:T	NC_000001.11:237718494:C:T	(self)

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

2 citations for rs201749277

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

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

rs201749277