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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs753204096

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:28734564 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000052 (13/251428, GnomAD_exome)
C=0.000007 (1/140060, GnomAD) (+ 2 more)
C=0.000066 (8/121266, ExAC)
C=0.00000 (0/11862, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CHEK2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 11862 G=1.00000 C=0.00000
European Sub 7618 G=1.0000 C=0.0000
African Sub 2816 G=1.0000 C=0.0000
African Others Sub 108 G=1.000 C=0.000
African American Sub 2708 G=1.0000 C=0.0000
Asian Sub 108 G=1.000 C=0.000
East Asian Sub 84 G=1.00 C=0.00
Other Asian Sub 24 G=1.00 C=0.00
Latin American 1 Sub 146 G=1.000 C=0.000
Latin American 2 Sub 610 G=1.000 C=0.000
South Asian Sub 94 G=1.00 C=0.00
Other Sub 470 G=1.000 C=0.000


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
TopMed Global Study-wide 264690 G=0.999996 C=0.000004
gnomAD - Exomes Global Study-wide 251428 G=0.999948 C=0.000052
gnomAD - Exomes European Sub 135358 G=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 49010 G=0.99973 C=0.00027
gnomAD - Exomes American Sub 34592 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 16254 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6138 G=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140060 G=0.999993 C=0.000007
gnomAD - Genomes European Sub 75906 G=1.00000 C=0.00000
gnomAD - Genomes African Sub 41940 G=1.00000 C=0.00000
gnomAD - Genomes American Sub 13616 G=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2146 G=0.9995 C=0.0005
ExAC Global Study-wide 121266 G=0.999934 C=0.000066
ExAC Europe Sub 73266 G=1.00000 C=0.00000
ExAC Asian Sub 25150 G=0.99968 C=0.00032
ExAC American Sub 11564 G=1.00000 C=0.00000
ExAC African Sub 10378 G=1.00000 C=0.00000
ExAC Other Sub 908 G=1.000 C=0.000
Allele Frequency Aggregator Total Global 11862 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 7618 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2816 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 470 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 C=0.00
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.p14 chr 22 NC_000022.11:g.28734564G>A
GRCh38.p14 chr 22 NC_000022.11:g.28734564G>C
GRCh37.p13 chr 22 NC_000022.10:g.29130552G>A
GRCh37.p13 chr 22 NC_000022.10:g.29130552G>C
CHEK2 RefSeqGene (LRG_302) NG_008150.2:g.12303C>T
CHEK2 RefSeqGene (LRG_302) NG_008150.2:g.12303C>G
Gene: CHEK2, checkpoint kinase 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CHEK2 transcript variant 4 NM_001257387.2:c.-620= N/A 5 Prime UTR Variant
CHEK2 transcript variant 2 NM_145862.2:c.158C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform b NP_665861.1:p.Ser53Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant 2 NM_145862.2:c.158C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform b NP_665861.1:p.Ser53Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant 1 NM_007194.4:c.158C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform a NP_009125.1:p.Ser53Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant 1 NM_007194.4:c.158C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform a NP_009125.1:p.Ser53Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant 5 NM_001349956.2:c.158C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform e NP_001336885.1:p.Ser53Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant 5 NM_001349956.2:c.158C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform e NP_001336885.1:p.Ser53Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant 3 NM_001005735.2:c.158C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform c NP_001005735.1:p.Ser53Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant 3 NM_001005735.2:c.158C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform c NP_001005735.1:p.Ser53Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X18 XM_011529845.3:c.-345+720…

XM_011529845.3:c.-345+7205C>T

 		N/A Intron Variant
CHEK2 transcript variant X12 XM_006724114.4:c. N/A Genic Upstream Transcript Variant
CHEK2 transcript variant X14 XM_006724116.3:c. N/A Genic Upstream Transcript Variant
CHEK2 transcript variant X13 XM_047441108.1:c. N/A Genic Upstream Transcript Variant
CHEK2 transcript variant X1 XM_011529839.3:c.188C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X1 XP_011528141.1:p.Ser63Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X1 XM_011529839.3:c.188C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X1 XP_011528141.1:p.Ser63Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X2 XM_017028560.2:c.188C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X2 XP_016884049.1:p.Ser63Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X2 XM_017028560.2:c.188C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X2 XP_016884049.1:p.Ser63Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X3 XM_047441104.1:c.158C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X3 XP_047297060.1:p.Ser53Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X3 XM_047441104.1:c.158C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X3 XP_047297060.1:p.Ser53Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X4 XM_011529840.4:c.188C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X4 XP_011528142.1:p.Ser63Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X4 XM_011529840.4:c.188C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X4 XP_011528142.1:p.Ser63Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X5 XM_047441105.1:c.158C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X5 XP_047297061.1:p.Ser53Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X5 XM_047441105.1:c.158C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X5 XP_047297061.1:p.Ser53Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X6 XM_024452148.2:c.188C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X6 XP_024307916.1:p.Ser63Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X6 XM_024452148.2:c.188C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X6 XP_024307916.1:p.Ser63Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X7 XM_047441106.1:c.158C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X7 XP_047297062.1:p.Ser53Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X7 XM_047441106.1:c.158C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X7 XP_047297062.1:p.Ser53Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X8 XM_047441107.1:c.188C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X8 XP_047297063.1:p.Ser63Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X8 XM_047441107.1:c.188C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X8 XP_047297063.1:p.Ser63Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X9 XM_024452149.2:c.188C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X9 XP_024307917.1:p.Ser63Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X9 XM_024452149.2:c.188C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X9 XP_024307917.1:p.Ser63Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X10 XM_011529842.3:c.188C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X10 XP_011528144.1:p.Ser63Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X10 XM_011529842.3:c.188C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X10 XP_011528144.1:p.Ser63Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X11 XM_011529844.3:c.188C>T S [TCT] > F [TTT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X11 XP_011528146.1:p.Ser63Phe S (Ser) > F (Phe) Missense Variant
CHEK2 transcript variant X11 XM_011529844.3:c.188C>G S [TCT] > C [TGT] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X11 XP_011528146.1:p.Ser63Cys S (Ser) > C (Cys) Missense Variant
CHEK2 transcript variant X15 XR_007067954.1:n.258C>T N/A Non Coding Transcript Variant
CHEK2 transcript variant X15 XR_007067954.1:n.258C>G N/A Non Coding Transcript Variant
CHEK2 transcript variant X16 XR_937806.3:n.259C>T N/A Non Coding Transcript Variant
CHEK2 transcript variant X16 XR_937806.3:n.259C>G N/A Non Coding Transcript Variant
CHEK2 transcript variant X17 XR_937807.3:n.259C>T N/A Non Coding Transcript Variant
CHEK2 transcript variant X17 XR_937807.3:n.259C>G N/A Non Coding Transcript Variant
CHEK2 transcript variant X19 XR_007067955.1:n.230C>T N/A Non Coding Transcript Variant
CHEK2 transcript variant X19 XR_007067955.1:n.230C>G N/A Non Coding Transcript 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: 1517094 )
ClinVar Accession Disease Names Clinical Significance
RCV002043789.4 Familial cancer of breast Uncertain-Significance
Allele: C (allele ID: 236702 )
ClinVar Accession Disease Names Clinical Significance
RCV000214765.6 Hereditary cancer-predisposing syndrome Uncertain-Significance
RCV000585913.5 not provided Uncertain-Significance
RCV000696869.5 Familial cancer of breast Uncertain-Significance
RCV001175354.2 not specified Uncertain-Significance
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 G= A C
GRCh38.p14 chr 22 NC_000022.11:g.28734564= NC_000022.11:g.28734564G>A NC_000022.11:g.28734564G>C
GRCh37.p13 chr 22 NC_000022.10:g.29130552= NC_000022.10:g.29130552G>A NC_000022.10:g.29130552G>C
CHEK2 RefSeqGene (LRG_302) NG_008150.2:g.12303= NG_008150.2:g.12303C>T NG_008150.2:g.12303C>G
CHEK2 transcript variant 1 NM_007194.4:c.158= NM_007194.4:c.158C>T NM_007194.4:c.158C>G
CHEK2 transcript variant 1 NM_007194.3:c.158= NM_007194.3:c.158C>T NM_007194.3:c.158C>G
CHEK2 transcript variant 3 NM_001005735.2:c.158= NM_001005735.2:c.158C>T NM_001005735.2:c.158C>G
CHEK2 transcript variant 3 NM_001005735.1:c.158= NM_001005735.1:c.158C>T NM_001005735.1:c.158C>G
CHEK2 transcript variant 4 NM_001257387.2:c.-620= NM_001257387.2:c.-620C>T NM_001257387.2:c.-620C>G
CHEK2 transcript variant 4 NM_001257387.1:c.-620= NM_001257387.1:c.-620C>T NM_001257387.1:c.-620C>G
CHEK2 transcript variant 2 NM_145862.2:c.158= NM_145862.2:c.158C>T NM_145862.2:c.158C>G
CHEK2 transcript variant 5 NM_001349956.2:c.158= NM_001349956.2:c.158C>T NM_001349956.2:c.158C>G
CHEK2 transcript variant 5 NM_001349956.1:c.158= NM_001349956.1:c.158C>T NM_001349956.1:c.158C>G
CHEK2 transcript variant X4 XM_011529840.4:c.188= XM_011529840.4:c.188C>T XM_011529840.4:c.188C>G
CHEK2 transcript variant X3 XM_011529840.3:c.188= XM_011529840.3:c.188C>T XM_011529840.3:c.188C>G
CHEK2 transcript variant X3 XM_011529840.2:c.188= XM_011529840.2:c.188C>T XM_011529840.2:c.188C>G
CHEK2 transcript variant X2 XM_011529840.1:c.188= XM_011529840.1:c.188C>T XM_011529840.1:c.188C>G
CHEK2 transcript variant X1 XM_011529839.3:c.188= XM_011529839.3:c.188C>T XM_011529839.3:c.188C>G
CHEK2 transcript variant X1 XM_011529839.2:c.188= XM_011529839.2:c.188C>T XM_011529839.2:c.188C>G
CHEK2 transcript variant X1 XM_011529839.1:c.188= XM_011529839.1:c.188C>T XM_011529839.1:c.188C>G
CHEK2 transcript variant X10 XM_011529842.3:c.188= XM_011529842.3:c.188C>T XM_011529842.3:c.188C>G
CHEK2 transcript variant X7 XM_011529842.2:c.188= XM_011529842.2:c.188C>T XM_011529842.2:c.188C>G
CHEK2 transcript variant X4 XM_011529842.1:c.188= XM_011529842.1:c.188C>T XM_011529842.1:c.188C>G
CHEK2 transcript variant X11 XM_011529844.3:c.188= XM_011529844.3:c.188C>T XM_011529844.3:c.188C>G
CHEK2 transcript variant X8 XM_011529844.2:c.188= XM_011529844.2:c.188C>T XM_011529844.2:c.188C>G
CHEK2 transcript variant X6 XM_011529844.1:c.188= XM_011529844.1:c.188C>T XM_011529844.1:c.188C>G
CHEK2 transcript variant X16 XR_937806.3:n.259= XR_937806.3:n.259C>T XR_937806.3:n.259C>G
CHEK2 transcript variant X12 XR_937806.2:n.261= XR_937806.2:n.261C>T XR_937806.2:n.261C>G
CHEK2 transcript variant X10 XR_937806.1:n.245= XR_937806.1:n.245C>T XR_937806.1:n.245C>G
CHEK2 transcript variant X17 XR_937807.3:n.259= XR_937807.3:n.259C>T XR_937807.3:n.259C>G
CHEK2 transcript variant X13 XR_937807.2:n.261= XR_937807.2:n.261C>T XR_937807.2:n.261C>G
CHEK2 transcript variant X11 XR_937807.1:n.245= XR_937807.1:n.245C>T XR_937807.1:n.245C>G
CHEK2 transcript variant X6 XM_024452148.2:c.188= XM_024452148.2:c.188C>T XM_024452148.2:c.188C>G
CHEK2 transcript variant X4 XM_024452148.1:c.188= XM_024452148.1:c.188C>T XM_024452148.1:c.188C>G
CHEK2 transcript variant X9 XM_024452149.2:c.188= XM_024452149.2:c.188C>T XM_024452149.2:c.188C>G
CHEK2 transcript variant X5 XM_024452149.1:c.188= XM_024452149.1:c.188C>T XM_024452149.1:c.188C>G
CHEK2 transcript variant X2 XM_017028560.2:c.188= XM_017028560.2:c.188C>T XM_017028560.2:c.188C>G
CHEK2 transcript variant X2 XM_017028560.1:c.188= XM_017028560.1:c.188C>T XM_017028560.1:c.188C>G
CHEK2 transcript variant X3 XM_047441104.1:c.158= XM_047441104.1:c.158C>T XM_047441104.1:c.158C>G
CHEK2 transcript variant X5 XM_047441105.1:c.158= XM_047441105.1:c.158C>T XM_047441105.1:c.158C>G
CHEK2 transcript variant X7 XM_047441106.1:c.158= XM_047441106.1:c.158C>T XM_047441106.1:c.158C>G
CHEK2 transcript variant X8 XM_047441107.1:c.188= XM_047441107.1:c.188C>T XM_047441107.1:c.188C>G
CHEK2 transcript variant X15 XR_007067954.1:n.258= XR_007067954.1:n.258C>T XR_007067954.1:n.258C>G
CHEK2 transcript variant X19 XR_007067955.1:n.230= XR_007067955.1:n.230C>T XR_007067955.1:n.230C>G
serine/threonine-protein kinase Chk2 isoform a NP_009125.1:p.Ser53= NP_009125.1:p.Ser53Phe NP_009125.1:p.Ser53Cys
serine/threonine-protein kinase Chk2 isoform c NP_001005735.1:p.Ser53= NP_001005735.1:p.Ser53Phe NP_001005735.1:p.Ser53Cys
serine/threonine-protein kinase Chk2 isoform b NP_665861.1:p.Ser53= NP_665861.1:p.Ser53Phe NP_665861.1:p.Ser53Cys
serine/threonine-protein kinase Chk2 isoform e NP_001336885.1:p.Ser53= NP_001336885.1:p.Ser53Phe NP_001336885.1:p.Ser53Cys
serine/threonine-protein kinase Chk2 isoform X4 XP_011528142.1:p.Ser63= XP_011528142.1:p.Ser63Phe XP_011528142.1:p.Ser63Cys
serine/threonine-protein kinase Chk2 isoform X1 XP_011528141.1:p.Ser63= XP_011528141.1:p.Ser63Phe XP_011528141.1:p.Ser63Cys
serine/threonine-protein kinase Chk2 isoform X10 XP_011528144.1:p.Ser63= XP_011528144.1:p.Ser63Phe XP_011528144.1:p.Ser63Cys
serine/threonine-protein kinase Chk2 isoform X11 XP_011528146.1:p.Ser63= XP_011528146.1:p.Ser63Phe XP_011528146.1:p.Ser63Cys
serine/threonine-protein kinase Chk2 isoform X6 XP_024307916.1:p.Ser63= XP_024307916.1:p.Ser63Phe XP_024307916.1:p.Ser63Cys
serine/threonine-protein kinase Chk2 isoform X9 XP_024307917.1:p.Ser63= XP_024307917.1:p.Ser63Phe XP_024307917.1:p.Ser63Cys
serine/threonine-protein kinase Chk2 isoform X2 XP_016884049.1:p.Ser63= XP_016884049.1:p.Ser63Phe XP_016884049.1:p.Ser63Cys
serine/threonine-protein kinase Chk2 isoform X3 XP_047297060.1:p.Ser53= XP_047297060.1:p.Ser53Phe XP_047297060.1:p.Ser53Cys
serine/threonine-protein kinase Chk2 isoform X5 XP_047297061.1:p.Ser53= XP_047297061.1:p.Ser53Phe XP_047297061.1:p.Ser53Cys
serine/threonine-protein kinase Chk2 isoform X7 XP_047297062.1:p.Ser53= XP_047297062.1:p.Ser53Phe XP_047297062.1:p.Ser53Cys
serine/threonine-protein kinase Chk2 isoform X8 XP_047297063.1:p.Ser63= XP_047297063.1:p.Ser63Phe XP_047297063.1:p.Ser63Cys
CHEK2 transcript variant X18 XM_011529845.3:c.-345+7205= XM_011529845.3:c.-345+7205C>T XM_011529845.3:c.-345+7205C>G
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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#.

6 SubSNP, 5 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1694288114 Apr 01, 2015 (144)
2 GNOMAD ss2745050461 Nov 08, 2017 (151)
3 GNOMAD ss4363660709 Apr 27, 2021 (155)
4 TOPMED ss5107307585 Apr 27, 2021 (155)
5 EVA ss5936454519 Oct 16, 2022 (156)
6 EVA ss5936454520 Oct 16, 2022 (156)
7 ExAC NC_000022.10 - 29130552 Oct 12, 2018 (152)
8 gnomAD - Genomes NC_000022.11 - 28734564 Apr 27, 2021 (155)
9 gnomAD - Exomes NC_000022.10 - 29130552 Jul 13, 2019 (153)
10 TopMed NC_000022.11 - 28734564 Apr 27, 2021 (155)
11 ALFA NC_000022.11 - 28734564 Apr 27, 2021 (155)
12 ClinVar RCV000214765.6 Oct 16, 2022 (156)
13 ClinVar RCV000585913.5 Oct 16, 2022 (156)
14 ClinVar RCV000696869.5 Oct 16, 2022 (156)
15 ClinVar RCV001175354.2 Oct 16, 2022 (156)
16 ClinVar RCV002043789.4 Oct 16, 2022 (156)
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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
ss5936454519, ss5936454520 NC_000022.10:29130551:G:A NC_000022.11:28734563:G:A
RCV002043789.4 NC_000022.11:28734563:G:A NC_000022.11:28734563:G:A
5864803, 14380521, ss1694288114, ss2745050461, ss5936454519 NC_000022.10:29130551:G:C NC_000022.11:28734563:G:C (self)
RCV000214765.6, RCV000585913.5, RCV000696869.5, RCV001175354.2, 568399793, 382416532, 5308990244, ss4363660709, ss5107307585 NC_000022.11:28734563:G:C NC_000022.11:28734563:G:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs753204096

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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.

Software version is: 2.0.1.post761+d5e8e07