Name: rs17224367
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.

rs17224367

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:47429833 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.000824 (218/264690, TOPMED)
T=0.001547 (389/251454, GnomAD_exome)
T=0.000413 (92/222850, ALFA) (+ 16 more)
T=0.000385 (54/140218, GnomAD)
T=0.001656 (201/121344, ExAC)
T=0.00315 (248/78700, PAGE_STUDY)
T=0.02813 (795/28258, 14KJPN)
T=0.02983 (500/16760, 8.3KJPN)
T=0.00008 (1/13006, GO-ESP)
T=0.0023 (15/6404, 1000G_30x)
T=0.0028 (14/5008, 1000G)
T=0.0373 (109/2920, KOREAN)
T=0.0349 (64/1832, Korea1K)
T=0.0018 (2/1136, Daghestan)
T=0.014 (13/918, HapMap)
T=0.034 (27/792, PRJEB37584)
T=0.008 (5/616, Vietnamese)
C=0.5 (2/4, SGDP_PRJ)
T=0.5 (2/4, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MSH2 : Missense Variant
Publications: 9 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	222972	C=0.999587	T=0.000413
European	Sub	196468	C=0.999985	T=0.000015
African	Sub	6250	C=1.0000	T=0.0000
African Others	Sub	216	C=1.000	T=0.000
African American	Sub	6034	C=1.0000	T=0.0000
Asian	Sub	3448	C=0.9762	T=0.0238
East Asian	Sub	2766	C=0.9707	T=0.0293
Other Asian	Sub	682	C=0.999	T=0.001
Latin American 1	Sub	806	C=1.000	T=0.000
Latin American 2	Sub	1036	C=1.0000	T=0.0000
South Asian	Sub	296	C=1.000	T=0.000
Other	Sub	14668	C=0.99952	T=0.00048

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
TopMed	Global	Study-wide	264690	C=0.999176	T=0.000824
gnomAD - Exomes	Global	Study-wide	251454	C=0.998453	T=0.001547
gnomAD - Exomes	European	Sub	135388	C=0.999963	T=0.000037
gnomAD - Exomes	Asian	Sub	49006	C=0.99221	T=0.00779
gnomAD - Exomes	American	Sub	34590	C=1.00000	T=0.00000
gnomAD - Exomes	African	Sub	16254	C=1.00000	T=0.00000
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	C=1.00000	T=0.00000
gnomAD - Exomes	Other	Sub	6136	C=0.9997	T=0.0003
Allele Frequency Aggregator	Total	Global	222850	C=0.999587	T=0.000413
Allele Frequency Aggregator	European	Sub	196364	C=0.999985	T=0.000015
Allele Frequency Aggregator	Other	Sub	14664	C=0.99952	T=0.00048
Allele Frequency Aggregator	African	Sub	6236	C=1.0000	T=0.0000
Allele Frequency Aggregator	Asian	Sub	3448	C=0.9762	T=0.0238
Allele Frequency Aggregator	Latin American 2	Sub	1036	C=1.0000	T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	806	C=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	296	C=1.000	T=0.000
gnomAD - Genomes	Global	Study-wide	140218	C=0.999615	T=0.000385
gnomAD - Genomes	European	Sub	75936	C=1.00000	T=0.00000
gnomAD - Genomes	African	Sub	42026	C=1.00000	T=0.00000
gnomAD - Genomes	American	Sub	13648	C=1.00000	T=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=1.0000	T=0.0000
gnomAD - Genomes	East Asian	Sub	3132	C=0.9831	T=0.0169
gnomAD - Genomes	Other	Sub	2154	C=0.9995	T=0.0005
ExAC	Global	Study-wide	121344	C=0.998344	T=0.001656
ExAC	Europe	Sub	73314	C=0.99997	T=0.00003
ExAC	Asian	Sub	25162	C=0.99213	T=0.00787
ExAC	American	Sub	11574	C=1.00000	T=0.00000
ExAC	African	Sub	10386	C=1.00000	T=0.00000
ExAC	Other	Sub	908	C=0.999	T=0.001
The PAGE Study	Global	Study-wide	78700	C=0.99685	T=0.00315
The PAGE Study	AfricanAmerican	Sub	32514	C=1.00000	T=0.00000
The PAGE Study	Mexican	Sub	10810	C=1.00000	T=0.00000
The PAGE Study	Asian	Sub	8318	C=0.9730	T=0.0270
The PAGE Study	PuertoRican	Sub	7918	C=1.0000	T=0.0000
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9954	T=0.0046
The PAGE Study	Cuban	Sub	4230	C=1.0000	T=0.0000
The PAGE Study	Dominican	Sub	3828	C=1.0000	T=0.0000
The PAGE Study	CentralAmerican	Sub	2450	C=1.0000	T=0.0000
The PAGE Study	SouthAmerican	Sub	1982	C=1.0000	T=0.0000
The PAGE Study	NativeAmerican	Sub	1260	C=1.0000	T=0.0000
The PAGE Study	SouthAsian	Sub	856	C=0.998	T=0.002
14KJPN	JAPANESE	Study-wide	28258	C=0.97187	T=0.02813
8.3KJPN	JAPANESE	Study-wide	16760	C=0.97017	T=0.02983
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.99992	T=0.00008
GO Exome Sequencing Project	European American	Sub	8600	C=0.9999	T=0.0001
GO Exome Sequencing Project	African American	Sub	4406	C=1.0000	T=0.0000
1000Genomes_30x	Global	Study-wide	6404	C=0.9977	T=0.0023
1000Genomes_30x	African	Sub	1786	C=1.0000	T=0.0000
1000Genomes_30x	Europe	Sub	1266	C=1.0000	T=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	T=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=0.9872	T=0.0128
1000Genomes_30x	American	Sub	980	C=1.000	T=0.000
1000Genomes	Global	Study-wide	5008	C=0.9972	T=0.0028
1000Genomes	African	Sub	1322	C=1.0000	T=0.0000
1000Genomes	East Asian	Sub	1008	C=0.9861	T=0.0139
1000Genomes	Europe	Sub	1006	C=1.0000	T=0.0000
1000Genomes	South Asian	Sub	978	C=1.000	T=0.000
1000Genomes	American	Sub	694	C=1.000	T=0.000
KOREAN population from KRGDB	KOREAN	Study-wide	2920	C=0.9627	T=0.0373
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9651	T=0.0349
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.9982	T=0.0018
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=1.000	T=0.000
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=1.000	T=0.000
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.984	T=0.016
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=1.000	T=0.000
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=1.00	T=0.00
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=1.00	T=0.00
HapMap	Global	Study-wide	918	C=0.986	T=0.014
HapMap	American	Sub	494	C=0.990	T=0.010
HapMap	Asian	Sub	246	C=0.972	T=0.028
HapMap	African	Sub	178	C=0.994	T=0.006
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.966	T=0.034
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.966	T=0.034
A Vietnamese Genetic Variation Database	Global	Study-wide	616	C=0.992	T=0.008
SGDP_PRJ	Global	Study-wide	4	C=0.5	T=0.5

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.47429833C>G
GRCh38.p14 chr 2	NC_000002.12:g.47429833C>T
GRCh37.p13 chr 2	NC_000002.11:g.47656972C>G
GRCh37.p13 chr 2	NC_000002.11:g.47656972C>T
MSH2 RefSeqGene (LRG_218)	NG_007110.2:g.31710C>G
MSH2 RefSeqGene (LRG_218)	NG_007110.2:g.31710C>T

Gene: MSH2, mutS homolog 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MSH2 transcript variant 2	NM_001258281.1:c.970C>G	L [CTT] > V [GTT]	Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform 2	NP_001245210.1:p.Leu324Val	L (Leu) > V (Val)	Missense Variant
MSH2 transcript variant 2	NM_001258281.1:c.970C>T	L [CTT] > F [TTT]	Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform 2	NP_001245210.1:p.Leu324Phe	L (Leu) > F (Phe)	Missense Variant
MSH2 transcript variant 1	NM_000251.3:c.1168C>G	L [CTT] > V [GTT]	Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform 1	NP_000242.1:p.Leu390Val	L (Leu) > V (Val)	Missense Variant
MSH2 transcript variant 1	NM_000251.3:c.1168C>T	L [CTT] > F [TTT]	Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform 1	NP_000242.1:p.Leu390Phe	L (Leu) > F (Phe)	Missense Variant
MSH2 transcript variant X1	XM_005264332.5:c.1168C>G	L [CTT] > V [GTT]	Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X1	XP_005264389.2:p.Leu390Val	L (Leu) > V (Val)	Missense Variant
MSH2 transcript variant X1	XM_005264332.5:c.1168C>T	L [CTT] > F [TTT]	Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X1	XP_005264389.2:p.Leu390Phe	L (Leu) > F (Phe)	Missense Variant
MSH2 transcript variant X1	XM_047444416.1:c.1168C>G	L [CTT] > V [GTT]	Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X1	XP_047300372.1:p.Leu390Val	L (Leu) > V (Val)	Missense Variant
MSH2 transcript variant X1	XM_047444416.1:c.1168C>T	L [CTT] > F [TTT]	Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X1	XP_047300372.1:p.Leu390Phe	L (Leu) > F (Phe)	Missense Variant
MSH2 transcript variant X4	XM_011532867.3:c.1168C>G	L [CTT] > V [GTT]	Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X3	XP_011531169.1:p.Leu390Val	L (Leu) > V (Val)	Missense Variant
MSH2 transcript variant X4	XM_011532867.3:c.1168C>T	L [CTT] > F [TTT]	Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X3	XP_011531169.1:p.Leu390Phe	L (Leu) > F (Phe)	Missense Variant
MSH2 transcript variant X2	XR_001738747.3:n.1204C>G	N/A	Non Coding Transcript Variant
MSH2 transcript variant X2	XR_001738747.3:n.1204C>T	N/A	Non Coding Transcript Variant
MSH2 transcript variant X5	XR_939685.3:n.1204C>G	N/A	Non Coding Transcript Variant
MSH2 transcript variant X5	XR_939685.3:n.1204C>T	N/A	Non Coding 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: G (allele ID: 482375 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000580665.3	Hereditary cancer-predisposing syndrome	Uncertain-Significance
RCV001853878.3	Hereditary nonpolyposis colorectal neoplasms	Uncertain-Significance

Allele: T (allele ID: 50080 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000034549.6	not provided	Benign
RCV000076053.6	Lynch syndrome	Benign
RCV000078420.21	not specified	Benign-Likely-Benign
RCV000115495.8	Hereditary cancer-predisposing syndrome	Benign
RCV001081498.6	Hereditary nonpolyposis colorectal neoplasms	Benign
RCV001094729.3	Lynch syndrome 1	Likely-Benign
RCV001355669.2	Carcinoma of colon	Benign

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=	G	T
GRCh38.p14 chr 2	NC_000002.12:g.47429833=	NC_000002.12:g.47429833C>G	NC_000002.12:g.47429833C>T
GRCh37.p13 chr 2	NC_000002.11:g.47656972=	NC_000002.11:g.47656972C>G	NC_000002.11:g.47656972C>T
MSH2 RefSeqGene (LRG_218)	NG_007110.2:g.31710=	NG_007110.2:g.31710C>G	NG_007110.2:g.31710C>T
MSH2 transcript variant 1	NM_000251.3:c.1168=	NM_000251.3:c.1168C>G	NM_000251.3:c.1168C>T
MSH2 transcript variant 1	NM_000251.2:c.1168=	NM_000251.2:c.1168C>G	NM_000251.2:c.1168C>T
MSH2 transcript variant 10	NM_001406638.1:c.1168=	NM_001406638.1:c.1168C>G	NM_001406638.1:c.1168C>T
MSH2 transcript variant 13	NM_001406641.1:c.1168=	NM_001406641.1:c.1168C>G	NM_001406641.1:c.1168C>T
MSH2 transcript variant 36	NM_001406669.1:c.-189=	NM_001406669.1:c.-189C>G	NM_001406669.1:c.-189C>T
MSH2 transcript variant 28	NM_001406656.1:c.271=	NM_001406656.1:c.271C>G	NM_001406656.1:c.271C>T
MSH2 transcript variant 21	NM_001406649.1:c.1018=	NM_001406649.1:c.1018C>G	NM_001406649.1:c.1018C>T
MSH2 transcript variant 17	NM_001406645.1:c.1168=	NM_001406645.1:c.1168C>G	NM_001406645.1:c.1168C>T
MSH2 transcript variant 26	NM_001406654.1:c.748=	NM_001406654.1:c.748C>G	NM_001406654.1:c.748C>T
MSH2 transcript variant 24	NM_001406652.1:c.1018=	NM_001406652.1:c.1018C>G	NM_001406652.1:c.1018C>T
MSH2 transcript variant 48	NR_176240.1:n.1204=	NR_176240.1:n.1204C>G	NR_176240.1:n.1204C>T
MSH2 transcript variant 59	NR_176230.1:n.1204=	NR_176230.1:n.1204C>G	NR_176230.1:n.1204C>T
MSH2 transcript variant 38	NM_001406674.1:c.1168=	NM_001406674.1:c.1168C>G	NM_001406674.1:c.1168C>T
MSH2 transcript variant 6	NM_001406634.1:c.1168=	NM_001406634.1:c.1168C>G	NM_001406634.1:c.1168C>T
MSH2 transcript variant 16	NM_001406644.1:c.1168=	NM_001406644.1:c.1168C>G	NM_001406644.1:c.1168C>T
MSH2 transcript variant 39	NR_176231.1:n.1204=	NR_176231.1:n.1204C>G	NR_176231.1:n.1204C>T
MSH2 transcript variant 23	NM_001406651.1:c.1018=	NM_001406651.1:c.1018C>G	NM_001406651.1:c.1018C>T
MSH2 transcript variant 57	NR_176249.1:n.1204=	NR_176249.1:n.1204C>G	NR_176249.1:n.1204C>T
MSH2 transcript variant 25	NM_001406653.1:c.1108=	NM_001406653.1:c.1108C>G	NM_001406653.1:c.1108C>T
MSH2 transcript variant 32	NM_001406660.1:c.-189=	NM_001406660.1:c.-189C>G	NM_001406660.1:c.-189C>T
MSH2 transcript variant 33	NM_001406661.1:c.-189=	NM_001406661.1:c.-189C>G	NM_001406661.1:c.-189C>T
MSH2 transcript variant 34	NM_001406662.1:c.-189=	NM_001406662.1:c.-189C>G	NM_001406662.1:c.-189C>T
MSH2 transcript variant 43	NR_176235.1:n.1204=	NR_176235.1:n.1204C>G	NR_176235.1:n.1204C>T
MSH2 transcript variant 50	NR_176242.1:n.1204=	NR_176242.1:n.1204C>G	NR_176242.1:n.1204C>T
MSH2 transcript variant 31	NM_001406659.1:c.-189=	NM_001406659.1:c.-189C>G	NM_001406659.1:c.-189C>T
MSH2 transcript variant 52	NR_176244.1:n.1204=	NR_176244.1:n.1204C>G	NR_176244.1:n.1204C>T
MSH2 transcript variant 40	NR_176232.1:n.1204=	NR_176232.1:n.1204C>G	NR_176232.1:n.1204C>T
MSH2 transcript variant 9	NM_001406637.1:c.1168=	NM_001406637.1:c.1168C>G	NM_001406637.1:c.1168C>T
MSH2 transcript variant 30	NM_001406658.1:c.-189=	NM_001406658.1:c.-189C>G	NM_001406658.1:c.-189C>T
MSH2 transcript variant 49	NR_176241.1:n.1204=	NR_176241.1:n.1204C>G	NR_176241.1:n.1204C>T
MSH2 transcript variant 54	NR_176246.1:n.1204=	NR_176246.1:n.1204C>G	NR_176246.1:n.1204C>T
MSH2 transcript variant 15	NM_001406643.1:c.1168=	NM_001406643.1:c.1168C>G	NM_001406643.1:c.1168C>T
MSH2 transcript variant 7	NM_001406635.1:c.1168=	NM_001406635.1:c.1168C>G	NM_001406635.1:c.1168C>T
MSH2 transcript variant 12	NM_001406640.1:c.1168=	NM_001406640.1:c.1168C>G	NM_001406640.1:c.1168C>T
MSH2 transcript variant 2	NM_001258281.1:c.970=	NM_001258281.1:c.970C>G	NM_001258281.1:c.970C>T
MSH2 transcript variant 55	NR_176247.1:n.1204=	NR_176247.1:n.1204C>G	NR_176247.1:n.1204C>T
MSH2 transcript variant 8	NM_001406636.1:c.1135=	NM_001406636.1:c.1135C>G	NM_001406636.1:c.1135C>T
MSH2 transcript variant 4	NM_001406632.1:c.1168=	NM_001406632.1:c.1168C>G	NM_001406632.1:c.1168C>T
MSH2 transcript variant 45	NR_176237.1:n.1204=	NR_176237.1:n.1204C>G	NR_176237.1:n.1204C>T
MSH2 transcript variant 47	NR_176239.1:n.1204=	NR_176239.1:n.1204C>G	NR_176239.1:n.1204C>T
MSH2 transcript variant 41	NR_176233.1:n.1046=	NR_176233.1:n.1046C>G	NR_176233.1:n.1046C>T
MSH2 transcript variant 53	NR_176245.1:n.1204=	NR_176245.1:n.1204C>G	NR_176245.1:n.1204C>T
MSH2 transcript variant 22	NM_001406650.1:c.1018=	NM_001406650.1:c.1018C>G	NM_001406650.1:c.1018C>T
MSH2 transcript variant 56	NR_176248.1:n.1204=	NR_176248.1:n.1204C>G	NR_176248.1:n.1204C>T
MSH2 transcript variant 46	NR_176238.1:n.1204=	NR_176238.1:n.1204C>G	NR_176238.1:n.1204C>T
MSH2 transcript variant 3	NM_001406631.1:c.1168=	NM_001406631.1:c.1168C>G	NM_001406631.1:c.1168C>T
MSH2 transcript variant 5	NM_001406633.1:c.1168=	NM_001406633.1:c.1168C>G	NM_001406633.1:c.1168C>T
MSH2 transcript variant 11	NM_001406639.1:c.1168=	NM_001406639.1:c.1168C>G	NM_001406639.1:c.1168C>T
MSH2 transcript variant 51	NR_176243.1:n.1054=	NR_176243.1:n.1054C>G	NR_176243.1:n.1054C>T
MSH2 transcript variant 14	NM_001406642.1:c.1168=	NM_001406642.1:c.1168C>G	NM_001406642.1:c.1168C>T
MSH2 transcript variant 20	NM_001406648.1:c.1168=	NM_001406648.1:c.1168C>G	NM_001406648.1:c.1168C>T
MSH2 transcript variant 58	NR_176250.1:n.1054=	NR_176250.1:n.1054C>G	NR_176250.1:n.1054C>T
MSH2 transcript variant 42	NR_176234.1:n.1204=	NR_176234.1:n.1204C>G	NR_176234.1:n.1204C>T
MSH2 transcript variant 44	NR_176236.1:n.1204=	NR_176236.1:n.1204C>G	NR_176236.1:n.1204C>T
MSH2 transcript variant 18	NM_001406646.1:c.1168=	NM_001406646.1:c.1168C>G	NM_001406646.1:c.1168C>T
MSH2 transcript variant 19	NM_001406647.1:c.1018=	NM_001406647.1:c.1018C>G	NM_001406647.1:c.1018C>T
MSH2 transcript variant 27	NM_001406655.1:c.1168=	NM_001406655.1:c.1168C>G	NM_001406655.1:c.1168C>T
MSH2 transcript variant 29	NM_001406657.1:c.1168=	NM_001406657.1:c.1168C>G	NM_001406657.1:c.1168C>T
MSH2 transcript variant 35	NM_001406666.1:c.1168=	NM_001406666.1:c.1168C>G	NM_001406666.1:c.1168C>T
MSH2 transcript variant 37	NM_001406672.1:c.1018=	NM_001406672.1:c.1018C>G	NM_001406672.1:c.1018C>T
MSH2 transcript variant X1	XM_005264332.5:c.1168=	XM_005264332.5:c.1168C>G	XM_005264332.5:c.1168C>T
MSH2 transcript variant X4	XM_011532867.3:c.1168=	XM_011532867.3:c.1168C>G	XM_011532867.3:c.1168C>T
MSH2 transcript variant X2	XR_001738747.3:n.1204=	XR_001738747.3:n.1204C>G	XR_001738747.3:n.1204C>T
MSH2 transcript variant X5	XR_939685.3:n.1204=	XR_939685.3:n.1204C>G	XR_939685.3:n.1204C>T
MSH2 transcript variant X1	XM_047444416.1:c.1168=	XM_047444416.1:c.1168C>G	XM_047444416.1:c.1168C>T
DNA mismatch repair protein Msh2 isoform 1	NP_000242.1:p.Leu390=	NP_000242.1:p.Leu390Val	NP_000242.1:p.Leu390Phe
DNA mismatch repair protein Msh2 isoform 2	NP_001245210.1:p.Leu324=	NP_001245210.1:p.Leu324Val	NP_001245210.1:p.Leu324Phe
DNA mismatch repair protein Msh2 isoform X1	XP_005264389.2:p.Leu390=	XP_005264389.2:p.Leu390Val	XP_005264389.2:p.Leu390Phe
DNA mismatch repair protein Msh2 isoform X3	XP_011531169.1:p.Leu390=	XP_011531169.1:p.Leu390Val	XP_011531169.1:p.Leu390Phe
DNA mismatch repair protein Msh2 isoform X1	XP_047300372.1:p.Leu390=	XP_047300372.1:p.Leu390Val	XP_047300372.1:p.Leu390Phe

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#.

75 SubSNP, 18 Frequency, 9 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	EGP_SNPS	ss23140908	Sep 20, 2004 (123)
2	ILLUMINA	ss74880712	Dec 07, 2007 (129)
3	KRIBB_YJKIM	ss119882492	Dec 01, 2009 (131)
4	ILLUMINA	ss172789599	Jul 04, 2010 (132)
5	1000GENOMES	ss238711374	Jul 15, 2010 (132)
6	GMI	ss475608114	May 04, 2012 (137)
7	ILLUMINA	ss480712205	May 04, 2012 (137)
8	ILLUMINA	ss484092530	May 04, 2012 (137)
9	1000GENOMES	ss489815167	May 04, 2012 (137)
10	EXOME_CHIP	ss491318684	May 04, 2012 (137)
11	ILLUMINA	ss533900063	Sep 08, 2015 (146)
12	MMR_WOODS	ss538293009	Oct 24, 2012 (137)
13	SSMP	ss649123031	Apr 25, 2013 (138)
14	NHLBI-ESP	ss712415840	Apr 25, 2013 (138)
15	ILLUMINA	ss779087699	Sep 08, 2015 (146)
16	ILLUMINA	ss780777450	Sep 08, 2015 (146)
17	ILLUMINA	ss781299268	Sep 08, 2015 (146)
18	ILLUMINA	ss783457490	Sep 08, 2015 (146)
19	ILLUMINA	ss834551533	Sep 08, 2015 (146)
20	1000GENOMES	ss1297052136	Aug 21, 2014 (142)
21	HAMMER_LAB	ss1397290987	Sep 08, 2015 (146)
22	EVA_EXAC	ss1686299756	Apr 01, 2015 (144)
23	EVA_SVP	ss1712452847	Apr 01, 2015 (144)
24	ILLUMINA	ss1752359257	Sep 08, 2015 (146)
25	ILLUMINA	ss1917749007	Feb 12, 2016 (147)
26	ILLUMINA	ss1946039714	Feb 12, 2016 (147)
27	ILLUMINA	ss1958415024	Feb 12, 2016 (147)
28	AMU	ss1966655058	Feb 12, 2016 (147)
29	HUMAN_LONGEVITY	ss2229893949	Dec 20, 2016 (150)
30	ILLUMINA	ss2633609396	Nov 08, 2017 (151)
31	ILLUMINA	ss2710899735	Nov 08, 2017 (151)
32	GNOMAD	ss2732652270	Nov 08, 2017 (151)
33	GNOMAD	ss2746676390	Nov 08, 2017 (151)
34	GNOMAD	ss2772942014	Nov 08, 2017 (151)
35	AFFY	ss2985167594	Nov 08, 2017 (151)
36	SWEGEN	ss2989433225	Nov 08, 2017 (151)
37	ILLUMINA	ss3021968028	Nov 08, 2017 (151)
38	ILLUMINA	ss3628055500	Oct 11, 2018 (152)
39	ILLUMINA	ss3628055501	Oct 11, 2018 (152)
40	ILLUMINA	ss3631576696	Oct 11, 2018 (152)
41	ILLUMINA	ss3634764734	Oct 11, 2018 (152)
42	ILLUMINA	ss3638258022	Oct 11, 2018 (152)
43	ILLUMINA	ss3640472036	Oct 11, 2018 (152)
44	ILLUMINA	ss3641105357	Oct 11, 2018 (152)
45	ILLUMINA	ss3641401156	Oct 11, 2018 (152)
46	ILLUMINA	ss3643228181	Oct 11, 2018 (152)
47	ILLUMINA	ss3644742439	Oct 11, 2018 (152)
48	ILLUMINA	ss3652399621	Oct 11, 2018 (152)
49	ILLUMINA	ss3653938126	Oct 11, 2018 (152)
50	ILLUMINA	ss3725782364	Jul 13, 2019 (153)
51	ILLUMINA	ss3744474993	Jul 13, 2019 (153)
52	ILLUMINA	ss3745064642	Jul 13, 2019 (153)
53	EVA	ss3756705562	Jul 13, 2019 (153)
54	PAGE_CC	ss3770916913	Jul 13, 2019 (153)
55	ILLUMINA	ss3772561479	Jul 13, 2019 (153)
56	KHV_HUMAN_GENOMES	ss3801078196	Jul 13, 2019 (153)
57	EVA	ss3823767784	Apr 25, 2020 (154)
58	SGDP_PRJ	ss3852176006	Apr 25, 2020 (154)
59	KRGDB	ss3897631415	Apr 25, 2020 (154)
60	KOGIC	ss3947667824	Apr 25, 2020 (154)
61	EVA	ss3984481905	Apr 26, 2021 (155)
62	TOPMED	ss4504025672	Apr 26, 2021 (155)
63	TOMMO_GENOMICS	ss5151151569	Apr 26, 2021 (155)
64	EVA	ss5236970297	Apr 26, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5247900892	Oct 12, 2022 (156)
66	TRAN_CS_UWATERLOO	ss5314401155	Oct 12, 2022 (156)
67	EVA	ss5314732433	Oct 12, 2022 (156)
68	EVA	ss5328632181	Oct 12, 2022 (156)
69	HUGCELL_USP	ss5448120098	Oct 12, 2022 (156)
70	1000G_HIGH_COVERAGE	ss5523026678	Oct 12, 2022 (156)
71	TOMMO_GENOMICS	ss5679715398	Oct 12, 2022 (156)
72	YY_MCH	ss5802167007	Oct 12, 2022 (156)
73	EVA	ss5847866545	Oct 12, 2022 (156)
74	EVA	ss5930176641	Oct 12, 2022 (156)
75	EVA	ss5954874417	Oct 12, 2022 (156)
76	1000Genomes	NC_000002.11 - 47656972	Oct 11, 2018 (152)
77	1000Genomes_30x	NC_000002.12 - 47429833	Oct 12, 2022 (156)
78	Genome-wide autozygosity in Daghestan	NC_000002.10 - 47510476	Apr 25, 2020 (154)
79	ExAC	NC_000002.11 - 47656972	Oct 11, 2018 (152)
80	gnomAD - Genomes	NC_000002.12 - 47429833	Apr 26, 2021 (155)
81	gnomAD - Exomes	NC_000002.11 - 47656972	Jul 13, 2019 (153)
82	GO Exome Sequencing Project	NC_000002.11 - 47656972	Oct 11, 2018 (152)
83	HapMap	NC_000002.12 - 47429833	Apr 25, 2020 (154)
84	KOREAN population from KRGDB	NC_000002.11 - 47656972	Apr 25, 2020 (154)
85	Korean Genome Project	NC_000002.12 - 47429833	Apr 25, 2020 (154)
86	The PAGE Study	NC_000002.12 - 47429833	Jul 13, 2019 (153)
87	CNV burdens in cranial meningiomas	NC_000002.11 - 47656972	Apr 26, 2021 (155)
88	SGDP_PRJ	NC_000002.11 - 47656972	Apr 25, 2020 (154)
89	8.3KJPN	NC_000002.11 - 47656972	Apr 26, 2021 (155)
90	14KJPN	NC_000002.12 - 47429833	Oct 12, 2022 (156)
91	TopMed	NC_000002.12 - 47429833	Apr 26, 2021 (155)
92	A Vietnamese Genetic Variation Database	NC_000002.11 - 47656972	Jul 13, 2019 (153)
93	ALFA	NC_000002.12 - 47429833	Apr 26, 2021 (155)
94	ClinVar	RCV000034549.6	Oct 12, 2022 (156)
95	ClinVar	RCV000076053.6	Oct 12, 2022 (156)
96	ClinVar	RCV000078420.21	Oct 12, 2022 (156)
97	ClinVar	RCV000115495.8	Oct 12, 2022 (156)
98	ClinVar	RCV000580665.3	Apr 26, 2021 (155)
99	ClinVar	RCV001081498.6	Oct 12, 2022 (156)
100	ClinVar	RCV001094729.3	Oct 12, 2022 (156)
101	ClinVar	RCV001355669.2	Oct 12, 2022 (156)
102	ClinVar	RCV001853878.3	Oct 12, 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
ss2989433225	NC_000002.11:47656971:C:G	NC_000002.12:47429832:C:G	(self)
RCV000580665.3, RCV001853878.3	NC_000002.12:47429832:C:G	NC_000002.12:47429832:C:G	(self)
241114, ss475608114, ss484092530, ss1397290987, ss1712452847, ss3643228181	NC_000002.10:47510475:C:T	NC_000002.12:47429832:C:T	(self)
7991057, 6169352, 1700713, 226248, 4808809, 31233, 4192986, 9120876, 965421, ss238711374, ss480712205, ss489815167, ss491318684, ss533900063, ss649123031, ss712415840, ss779087699, ss780777450, ss781299268, ss783457490, ss834551533, ss1297052136, ss1686299756, ss1752359257, ss1917749007, ss1946039714, ss1958415024, ss1966655058, ss2633609396, ss2710899735, ss2732652270, ss2746676390, ss2772942014, ss2985167594, ss3021968028, ss3628055500, ss3628055501, ss3631576696, ss3634764734, ss3638258022, ss3640472036, ss3641105357, ss3641401156, ss3644742439, ss3652399621, ss3653938126, ss3744474993, ss3745064642, ss3756705562, ss3772561479, ss3823767784, ss3852176006, ss3897631415, ss3984481905, ss5151151569, ss5314732433, ss5328632181, ss5847866545, ss5954874417	NC_000002.11:47656971:C:T	NC_000002.12:47429832:C:T	(self)
RCV000034549.6, RCV000076053.6, RCV000078420.21, RCV000115495.8, RCV001081498.6, RCV001094729.3, RCV001355669.2, 10552613, 56704866, 1789702, 4045825, 138382, 13552502, 307848551, 3792151657, ss538293009, ss2229893949, ss3725782364, ss3770916913, ss3801078196, ss3947667824, ss4504025672, ss5236970297, ss5247900892, ss5314401155, ss5448120098, ss5523026678, ss5679715398, ss5802167007, ss5930176641	NC_000002.12:47429832:C:T	NC_000002.12:47429832:C:T	(self)
ss23140908, ss74880712, ss119882492, ss172789599	NT_022184.15:26478858:C:T	NC_000002.12:47429832:C:T	(self)

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

9 citations for rs17224367

PMID	Title	Author	Year	Journal
9621522	Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers.	Okamura S et al.	1998	Journal of human genetics
17011982	Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population.	Fan Y et al.	2006	Cancer genetics and cytogenetics
19389263	Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.	Doss CG et al.	2009	Journal of biomedical science
22703879	Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.	Johnston JJ et al.	2012	American journal of human genetics
23757202	Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.	Bean LJ et al.	2013	Human mutation
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
24728327	Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.	Bodian DL et al.	2014	PloS one
26900293	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.	Chang YC et al.	2016	World journal of gastroenterology
35279875	FAT1 and MSH2 Are Predictive Prognostic Markers for Chinese Osteosarcoma Patients Following Chemotherapeutic Treatment.	Zhou C et al.	2022	Journal of bone and mineral research

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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs17224367