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dbSNP Short Genetic Variations

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.

rs371418985

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:28695737 (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=0.000008 (2/250178, GnomAD_exome)
T=0.000017 (2/119158, ExAC)
T=0.00008 (1/12998, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CHEK2 : Stop Gained
Publications
1 citation
Genomic View
See rs on genome
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 250178 C=0.999992 T=0.000008
gnomAD - Exomes European Sub 134642 C=0.999985 T=0.000015
gnomAD - Exomes Asian Sub 49006 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34572 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 15810 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10044 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6104 C=1.0000 T=0.0000
ExAC Global Study-wide 119158 C=0.999983 T=0.000017
ExAC Europe Sub 72090 C=0.99997 T=0.00003
ExAC Asian Sub 25140 C=1.00000 T=0.00000
ExAC American Sub 11510 C=1.00000 T=0.00000
ExAC African Sub 9518 C=1.0000 T=0.0000
ExAC Other Sub 900 C=1.000 T=0.000
GO Exome Sequencing Project Global Study-wide 12998 C=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8594 C=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 4404 C=1.0000 T=0.0000
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.28695737C>G
GRCh38.p14 chr 22 NC_000022.11:g.28695737C>T
GRCh37.p13 chr 22 NC_000022.10:g.29091725C>G
GRCh37.p13 chr 22 NC_000022.10:g.29091725C>T
CHEK2 RefSeqGene (LRG_302) NG_008150.2:g.51130G>C
CHEK2 RefSeqGene (LRG_302) NG_008150.2:g.51130G>A
Gene: CHEK2, checkpoint kinase 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CHEK2 transcript variant 2 NM_145862.2:c.1145G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform b NP_665861.1:p.Trp382Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant 2 NM_145862.2:c.1145G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform b NP_665861.1:p.Trp382Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant 1 NM_007194.4:c.1232G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform a NP_009125.1:p.Trp411Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant 1 NM_007194.4:c.1232G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform a NP_009125.1:p.Trp411Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant 4 NM_001257387.2:c.569G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform d NP_001244316.1:p.Trp190Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant 4 NM_001257387.2:c.569G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform d NP_001244316.1:p.Trp190Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant 5 NM_001349956.2:c.1031G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform e NP_001336885.1:p.Trp344Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant 5 NM_001349956.2:c.1031G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform e NP_001336885.1:p.Trp344Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant 3 NM_001005735.2:c.1361G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform c NP_001005735.1:p.Trp454Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant 3 NM_001005735.2:c.1361G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform c NP_001005735.1:p.Trp454Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X11 XM_011529844.3:c. N/A Genic Downstream Transcript Variant
CHEK2 transcript variant X1 XM_011529839.3:c.1391G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X1 XP_011528141.1:p.Trp464Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X1 XM_011529839.3:c.1391G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X1 XP_011528141.1:p.Trp464Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X2 XM_017028560.2:c.1355G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X2 XP_016884049.1:p.Trp452Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X2 XM_017028560.2:c.1355G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X2 XP_016884049.1:p.Trp452Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X3 XM_047441104.1:c.1325G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X3 XP_047297060.1:p.Trp442Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X3 XM_047441104.1:c.1325G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X3 XP_047297060.1:p.Trp442Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X4 XM_011529840.4:c.1304G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X4 XP_011528142.1:p.Trp435Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X4 XM_011529840.4:c.1304G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X4 XP_011528142.1:p.Trp435Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X5 XM_047441105.1:c.1274G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X5 XP_047297061.1:p.Trp425Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X5 XM_047441105.1:c.1274G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X5 XP_047297061.1:p.Trp425Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X6 XM_024452148.2:c.1262G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X6 XP_024307916.1:p.Trp421Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X6 XM_024452148.2:c.1262G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X6 XP_024307916.1:p.Trp421Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X7 XM_047441106.1:c.1238G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X7 XP_047297062.1:p.Trp413Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X7 XM_047441106.1:c.1238G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X7 XP_047297062.1:p.Trp413Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X8 XM_047441107.1:c.1190G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X8 XP_047297063.1:p.Trp397Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X8 XM_047441107.1:c.1190G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X8 XP_047297063.1:p.Trp397Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X9 XM_024452149.2:c.1175G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X9 XP_024307917.1:p.Trp392Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X9 XM_024452149.2:c.1175G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X9 XP_024307917.1:p.Trp392Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X10 XM_011529842.3:c.1061G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X10 XP_011528144.1:p.Trp354Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X10 XM_011529842.3:c.1061G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X10 XP_011528144.1:p.Trp354Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X12 XM_006724114.4:c.752G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X12 XP_006724177.3:p.Trp251Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X12 XM_006724114.4:c.752G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X12 XP_006724177.3:p.Trp251Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X13 XM_047441108.1:c.665G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X13 XP_047297064.1:p.Trp222Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X13 XM_047441108.1:c.665G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X13 XP_047297064.1:p.Trp222Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X14 XM_006724116.3:c.689G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X14 XP_006724179.2:p.Trp230Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X14 XM_006724116.3:c.689G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X14 XP_006724179.2:p.Trp230Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X18 XM_011529845.3:c.569G>C W [TGG] > S [TCG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X15 XP_011528147.1:p.Trp190Ser W (Trp) > S (Ser) Missense Variant
CHEK2 transcript variant X18 XM_011529845.3:c.569G>A W [TGG] > * [TAG] Coding Sequence Variant
serine/threonine-protein kinase Chk2 isoform X15 XP_011528147.1:p.Trp190Ter W (Trp) > * (Ter) Stop Gained
CHEK2 transcript variant X15 XR_007067954.1:n. N/A Genic Downstream Transcript Variant
CHEK2 transcript variant X19 XR_007067955.1:n. N/A Genic Downstream Transcript Variant
CHEK2 transcript variant X16 XR_937806.3:n. N/A Genic Downstream Transcript Variant
CHEK2 transcript variant X17 XR_937807.3:n. N/A Genic Downstream 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: T (allele ID: 232124 )
ClinVar Accession Disease Names Clinical Significance
RCV000220219.10 not provided Pathogenic-Likely-Pathogenic
RCV000448496.9 Hereditary cancer-predisposing syndrome Pathogenic-Likely-Pathogenic
RCV000465371.9 Familial cancer of breast Pathogenic-Likely-Pathogenic
RCV002265697.1 Hereditary breast ovarian cancer syndrome Pathogenic
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= G T
GRCh38.p14 chr 22 NC_000022.11:g.28695737= NC_000022.11:g.28695737C>G NC_000022.11:g.28695737C>T
GRCh37.p13 chr 22 NC_000022.10:g.29091725= NC_000022.10:g.29091725C>G NC_000022.10:g.29091725C>T
CHEK2 RefSeqGene (LRG_302) NG_008150.2:g.51130= NG_008150.2:g.51130G>C NG_008150.2:g.51130G>A
CHEK2 transcript variant 1 NM_007194.4:c.1232= NM_007194.4:c.1232G>C NM_007194.4:c.1232G>A
CHEK2 transcript variant 1 NM_007194.3:c.1232= NM_007194.3:c.1232G>C NM_007194.3:c.1232G>A
CHEK2 transcript variant 3 NM_001005735.2:c.1361= NM_001005735.2:c.1361G>C NM_001005735.2:c.1361G>A
CHEK2 transcript variant 3 NM_001005735.1:c.1361= NM_001005735.1:c.1361G>C NM_001005735.1:c.1361G>A
CHEK2 transcript variant 4 NM_001257387.2:c.569= NM_001257387.2:c.569G>C NM_001257387.2:c.569G>A
CHEK2 transcript variant 4 NM_001257387.1:c.569= NM_001257387.1:c.569G>C NM_001257387.1:c.569G>A
CHEK2 transcript variant 2 NM_145862.2:c.1145= NM_145862.2:c.1145G>C NM_145862.2:c.1145G>A
CHEK2 transcript variant 5 NM_001349956.2:c.1031= NM_001349956.2:c.1031G>C NM_001349956.2:c.1031G>A
CHEK2 transcript variant 5 NM_001349956.1:c.1031= NM_001349956.1:c.1031G>C NM_001349956.1:c.1031G>A
CHEK2 transcript variant X4 XM_011529840.4:c.1304= XM_011529840.4:c.1304G>C XM_011529840.4:c.1304G>A
CHEK2 transcript variant X3 XM_011529840.3:c.1304= XM_011529840.3:c.1304G>C XM_011529840.3:c.1304G>A
CHEK2 transcript variant X3 XM_011529840.2:c.1304= XM_011529840.2:c.1304G>C XM_011529840.2:c.1304G>A
CHEK2 transcript variant X2 XM_011529840.1:c.1304= XM_011529840.1:c.1304G>C XM_011529840.1:c.1304G>A
CHEK2 transcript variant X12 XM_006724114.4:c.752= XM_006724114.4:c.752G>C XM_006724114.4:c.752G>A
CHEK2 transcript variant X9 XM_006724114.3:c.785= XM_006724114.3:c.785G>C XM_006724114.3:c.785G>A
CHEK2 transcript variant X7 XM_006724114.2:c.752= XM_006724114.2:c.752G>C XM_006724114.2:c.752G>A
CHEK2 transcript variant X2 XM_006724114.1:c.752= XM_006724114.1:c.752G>C XM_006724114.1:c.752G>A
CHEK2 transcript variant X1 XM_011529839.3:c.1391= XM_011529839.3:c.1391G>C XM_011529839.3:c.1391G>A
CHEK2 transcript variant X1 XM_011529839.2:c.1391= XM_011529839.2:c.1391G>C XM_011529839.2:c.1391G>A
CHEK2 transcript variant X1 XM_011529839.1:c.1391= XM_011529839.1:c.1391G>C XM_011529839.1:c.1391G>A
CHEK2 transcript variant X10 XM_011529842.3:c.1061= XM_011529842.3:c.1061G>C XM_011529842.3:c.1061G>A
CHEK2 transcript variant X7 XM_011529842.2:c.1061= XM_011529842.2:c.1061G>C XM_011529842.2:c.1061G>A
CHEK2 transcript variant X4 XM_011529842.1:c.1061= XM_011529842.1:c.1061G>C XM_011529842.1:c.1061G>A
CHEK2 transcript variant X18 XM_011529845.3:c.569= XM_011529845.3:c.569G>C XM_011529845.3:c.569G>A
CHEK2 transcript variant X14 XM_011529845.2:c.569= XM_011529845.2:c.569G>C XM_011529845.2:c.569G>A
CHEK2 transcript variant X12 XM_011529845.1:c.569= XM_011529845.1:c.569G>C XM_011529845.1:c.569G>A
CHEK2 transcript variant X14 XM_006724116.3:c.689= XM_006724116.3:c.689G>C XM_006724116.3:c.689G>A
CHEK2 transcript variant X10 XM_006724116.2:c.689= XM_006724116.2:c.689G>C XM_006724116.2:c.689G>A
CHEK2 transcript variant X4 XM_006724116.1:c.665= XM_006724116.1:c.665G>C XM_006724116.1:c.665G>A
CHEK2 transcript variant X6 XM_024452148.2:c.1262= XM_024452148.2:c.1262G>C XM_024452148.2:c.1262G>A
CHEK2 transcript variant X4 XM_024452148.1:c.1262= XM_024452148.1:c.1262G>C XM_024452148.1:c.1262G>A
CHEK2 transcript variant X9 XM_024452149.2:c.1175= XM_024452149.2:c.1175G>C XM_024452149.2:c.1175G>A
CHEK2 transcript variant X5 XM_024452149.1:c.1175= XM_024452149.1:c.1175G>C XM_024452149.1:c.1175G>A
CHEK2 transcript variant X2 XM_017028560.2:c.1355= XM_017028560.2:c.1355G>C XM_017028560.2:c.1355G>A
CHEK2 transcript variant X2 XM_017028560.1:c.1355= XM_017028560.1:c.1355G>C XM_017028560.1:c.1355G>A
CHEK2 transcript variant X3 XM_047441104.1:c.1325= XM_047441104.1:c.1325G>C XM_047441104.1:c.1325G>A
CHEK2 transcript variant X5 XM_047441105.1:c.1274= XM_047441105.1:c.1274G>C XM_047441105.1:c.1274G>A
CHEK2 transcript variant X7 XM_047441106.1:c.1238= XM_047441106.1:c.1238G>C XM_047441106.1:c.1238G>A
CHEK2 transcript variant X8 XM_047441107.1:c.1190= XM_047441107.1:c.1190G>C XM_047441107.1:c.1190G>A
CHEK2 transcript variant X13 XM_047441108.1:c.665= XM_047441108.1:c.665G>C XM_047441108.1:c.665G>A
serine/threonine-protein kinase Chk2 isoform a NP_009125.1:p.Trp411= NP_009125.1:p.Trp411Ser NP_009125.1:p.Trp411Ter
serine/threonine-protein kinase Chk2 isoform c NP_001005735.1:p.Trp454= NP_001005735.1:p.Trp454Ser NP_001005735.1:p.Trp454Ter
serine/threonine-protein kinase Chk2 isoform d NP_001244316.1:p.Trp190= NP_001244316.1:p.Trp190Ser NP_001244316.1:p.Trp190Ter
serine/threonine-protein kinase Chk2 isoform b NP_665861.1:p.Trp382= NP_665861.1:p.Trp382Ser NP_665861.1:p.Trp382Ter
serine/threonine-protein kinase Chk2 isoform e NP_001336885.1:p.Trp344= NP_001336885.1:p.Trp344Ser NP_001336885.1:p.Trp344Ter
serine/threonine-protein kinase Chk2 isoform X4 XP_011528142.1:p.Trp435= XP_011528142.1:p.Trp435Ser XP_011528142.1:p.Trp435Ter
serine/threonine-protein kinase Chk2 isoform X12 XP_006724177.3:p.Trp251= XP_006724177.3:p.Trp251Ser XP_006724177.3:p.Trp251Ter
serine/threonine-protein kinase Chk2 isoform X1 XP_011528141.1:p.Trp464= XP_011528141.1:p.Trp464Ser XP_011528141.1:p.Trp464Ter
serine/threonine-protein kinase Chk2 isoform X10 XP_011528144.1:p.Trp354= XP_011528144.1:p.Trp354Ser XP_011528144.1:p.Trp354Ter
serine/threonine-protein kinase Chk2 isoform X15 XP_011528147.1:p.Trp190= XP_011528147.1:p.Trp190Ser XP_011528147.1:p.Trp190Ter
serine/threonine-protein kinase Chk2 isoform X14 XP_006724179.2:p.Trp230= XP_006724179.2:p.Trp230Ser XP_006724179.2:p.Trp230Ter
serine/threonine-protein kinase Chk2 isoform X6 XP_024307916.1:p.Trp421= XP_024307916.1:p.Trp421Ser XP_024307916.1:p.Trp421Ter
serine/threonine-protein kinase Chk2 isoform X9 XP_024307917.1:p.Trp392= XP_024307917.1:p.Trp392Ser XP_024307917.1:p.Trp392Ter
serine/threonine-protein kinase Chk2 isoform X2 XP_016884049.1:p.Trp452= XP_016884049.1:p.Trp452Ser XP_016884049.1:p.Trp452Ter
serine/threonine-protein kinase Chk2 isoform X3 XP_047297060.1:p.Trp442= XP_047297060.1:p.Trp442Ser XP_047297060.1:p.Trp442Ter
serine/threonine-protein kinase Chk2 isoform X5 XP_047297061.1:p.Trp425= XP_047297061.1:p.Trp425Ser XP_047297061.1:p.Trp425Ter
serine/threonine-protein kinase Chk2 isoform X7 XP_047297062.1:p.Trp413= XP_047297062.1:p.Trp413Ser XP_047297062.1:p.Trp413Ter
serine/threonine-protein kinase Chk2 isoform X8 XP_047297063.1:p.Trp397= XP_047297063.1:p.Trp397Ser XP_047297063.1:p.Trp397Ter
serine/threonine-protein kinase Chk2 isoform X13 XP_047297064.1:p.Trp222= XP_047297064.1:p.Trp222Ser XP_047297064.1:p.Trp222Ter
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#.

5 SubSNP, 3 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss713616012 Apr 25, 2013 (138)
2 EVA_EXAC ss1694287709 Apr 01, 2015 (144)
3 GNOMAD ss2745049756 Nov 08, 2017 (151)
4 EVA ss3825435090 Apr 27, 2020 (154)
5 EVA ss5936452619 Oct 16, 2022 (156)
6 ExAC NC_000022.10 - 29091725 Oct 12, 2018 (152)
7 gnomAD - Exomes NC_000022.10 - 29091725 Jul 13, 2019 (153)
8 GO Exome Sequencing Project NC_000022.10 - 29091725 Oct 12, 2018 (152)
9 ClinVar RCV000220219.10 Oct 16, 2022 (156)
10 ClinVar RCV000448496.9 Oct 16, 2022 (156)
11 ClinVar RCV000465371.9 Oct 16, 2022 (156)
12 ClinVar RCV002265697.1 Oct 16, 2022 (156)
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
ss5936452619 NC_000022.10:29091724:C:G NC_000022.11:28695736:C:G
5864331, 14379822, 1891931, ss713616012, ss1694287709, ss2745049756, ss3825435090, ss5936452619 NC_000022.10:29091724:C:T NC_000022.11:28695736:C:T (self)
RCV000220219.10, RCV000448496.9, RCV000465371.9, RCV002265697.1 NC_000022.11:28695736:C:T NC_000022.11:28695736: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.

1 citation for rs371418985
PMID Title Author Year Journal
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
Help

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
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.post761+d5e8e07