Name: rs1491551086
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.

rs1491551086

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:54984330-54984331 (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: insG / insGTG / ins(GT)₃TG / ins(G…
insG / insGTG / ins(GT)₃TG / ins(GT)₃TTTTTTTTTTTTTG / insGTGTTG
Variation Type: Insertion
Frequency: insGTG=0.00019 (3/15994, 8.3KJPN)
insG=0.00000 (0/11860, ALFA)
insGTG=0.00000 (0/11860, ALFA) (+ 1 more)
ins(GT)₃TG=0.00000 (0/11860, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NLRP2 : Intron 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	11860	=1.00000	G=0.00000, GTG=0.00000, GTGTGTTG=0.00000	1.0	N/A
European	Sub	7616	=1.0000	G=0.0000, GTG=0.0000, GTGTGTTG=0.0000	1.0	N/A
African	Sub	2816	=1.0000	G=0.0000, GTG=0.0000, GTGTGTTG=0.0000	1.0	N/A
African Others	Sub	108	=1.000	G=0.000, GTG=0.000, GTGTGTTG=0.000	1.0	N/A
African American	Sub	2708	=1.0000	G=0.0000, GTG=0.0000, GTGTGTTG=0.0000	1.0	N/A
Asian	Sub	108	=1.000	G=0.000, GTG=0.000, GTGTGTTG=0.000	1.0	N/A
East Asian	Sub	84	=1.00	G=0.00, GTG=0.00, GTGTGTTG=0.00	1.0	N/A
Other Asian	Sub	24	=1.00	G=0.00, GTG=0.00, GTGTGTTG=0.00	1.0	N/A
Latin American 1	Sub	146	=1.000	G=0.000, GTG=0.000, GTGTGTTG=0.000	1.0	N/A
Latin American 2	Sub	610	=1.000	G=0.000, GTG=0.000, GTGTGTTG=0.000	1.0	N/A
South Asian	Sub	94	=1.00	G=0.00, GTG=0.00, GTGTGTTG=0.00	1.0	N/A
Other	Sub	470	=1.000	G=0.000, GTG=0.000, GTGTGTTG=0.000	1.0	N/A

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
8.3KJPN	JAPANESE	Study-wide	15994	- No frequency provided	insGTG=0.00019
Allele Frequency Aggregator	Total	Global	11860	- No frequency provided	insG=0.00000, insGTG=0.00000, ins(GT)₃TG=0.00000
Allele Frequency Aggregator	European	Sub	7616	- No frequency provided	insG=0.0000, insGTG=0.0000, ins(GT)₃TG=0.0000
Allele Frequency Aggregator	African	Sub	2816	- No frequency provided	insG=0.0000, insGTG=0.0000, ins(GT)₃TG=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	- No frequency provided	insG=0.000, insGTG=0.000, ins(GT)₃TG=0.000
Allele Frequency Aggregator	Other	Sub	470	- No frequency provided	insG=0.000, insGTG=0.000, ins(GT)₃TG=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	- No frequency provided	insG=0.000, insGTG=0.000, ins(GT)₃TG=0.000
Allele Frequency Aggregator	Asian	Sub	108	- No frequency provided	insG=0.000, insGTG=0.000, ins(GT)₃TG=0.000
Allele Frequency Aggregator	South Asian	Sub	94	- No frequency provided	insG=0.00, insGTG=0.00, ins(GT)₃TG=0.00

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 19	NC_000019.10:g.54984330_54984331insG
GRCh38.p14 chr 19	NC_000019.10:g.54984330_54984331insGTG
GRCh38.p14 chr 19	NC_000019.10:g.54984330_54984331insGTGTGTTG
GRCh38.p14 chr 19	NC_000019.10:g.54984330_54984331insGTGTGTTTTTTTTTTTTTTG
GRCh38.p14 chr 19	NC_000019.10:g.54984330_54984331insGTGTTG
GRCh37.p13 chr 19	NC_000019.9:g.55495698_55495699insG
GRCh37.p13 chr 19	NC_000019.9:g.55495698_55495699insGTG
GRCh37.p13 chr 19	NC_000019.9:g.55495698_55495699insGTGTGTTG
GRCh37.p13 chr 19	NC_000019.9:g.55495698_55495699insGTGTGTTTTTTTTTTTTTTG
GRCh37.p13 chr 19	NC_000019.9:g.55495698_55495699insGTGTTG
NLRP2 RefSeqGene	NG_052633.1:g.36201_36202insG
NLRP2 RefSeqGene	NG_052633.1:g.36201_36202insGTG
NLRP2 RefSeqGene	NG_052633.1:g.36201_36202insGTGTGTTG
NLRP2 RefSeqGene	NG_052633.1:g.36201_36202insGTGTGTTTTTTTTTTTTTTG
NLRP2 RefSeqGene	NG_052633.1:g.36201_36202insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.696491_696492insG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.696491_696492insGTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.696491_696492insGTGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.696491_696492insGTGTGTTTTTTTTTTTTTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.696491_696492insGTGTTG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.696490_696491insG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.696490_696491insGTG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.696490_696491insGTGTGTTG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.696490_696491insGTGTGTTTTTTTTTTTTTTG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.696490_696491insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.902695_902696insG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.902695_902696insGTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.902695_902696insGTGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.902695_902696insGTGTGTTTTTTTTTTTTTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.902695_902696insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.966402_966403insG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.966402_966403insGTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.966402_966403insGTGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.966402_966403insGTGTGTTTTTTTTTTTTTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.966402_966403insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.991853_991854insG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.991853_991854insGTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.991853_991854insGTGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.991853_991854insGTGTGTTTTTTTTTTTTTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.991853_991854insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.964316_964317insG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.964316_964317insGTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.964316_964317insGTGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.964316_964317insGTGTGTTTTTTTTTTTTTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.964316_964317insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.629532_629533insG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.629532_629533insGTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.629532_629533insGTGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.629532_629533insGTGTGTTTTTTTTTTTTTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.629532_629533insGTGTTG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.629531_629532insG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.629531_629532insGTG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.629531_629532insGTGTGTTG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.629531_629532insGTGTGTTTTTTTTTTTTTTG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.629531_629532insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.887728_887729insG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.887728_887729insGTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.887728_887729insGTGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.887728_887729insGTGTGTTTTTTTTTTTTTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.887728_887729insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.966812_966813insG
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.966812_966813insGTG
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.966812_966813insGTGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.966812_966813insGTGTGTTTTTTTTTTTTTTG
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.966812_966813insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.887104_887105insG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.887104_887105insGTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.887104_887105insGTGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.887104_887105insGTGTGTTTTTTTTTTTTTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.887104_887105insGTGTTG
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.958698_958699insG
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.958698_958699insGTG
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.958698_958699insGTGTGTTG
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.958698_958699insGTGTGTTTTTTTTTTTTTTG
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.958698_958699insGTGTTG

Gene: NLRP2, NLR family pyrin domain containing 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NLRP2 transcript variant 2	NM_001174081.3:c.2030+602… NM_001174081.3:c.2030+602_2030+603insG	N/A	Intron Variant
NLRP2 transcript variant 3	NM_001174082.3:c.1964+602… NM_001174082.3:c.1964+602_1964+603insG	N/A	Intron Variant
NLRP2 transcript variant 4	NM_001174083.2:c.1961+602… NM_001174083.2:c.1961+602_1961+603insG	N/A	Intron Variant
NLRP2 transcript variant 5	NM_001348003.2:c.2021+602… NM_001348003.2:c.2021+602_2021+603insG	N/A	Intron Variant
NLRP2 transcript variant 1	NM_017852.5:c.2030+602_20… NM_017852.5:c.2030+602_2030+603insG	N/A	Intron Variant
NLRP2 transcript variant 6	NR_145325.2:n.	N/A	Intron 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.

Not Reported in ClinVar

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	=	insG	insGTG	ins(GT)₃TG	ins(GT)₃TTTTTTTTTTTTTG	insGTGTTG
GRCh38.p14 chr 19	NC_000019.10:g.54984330_54984331=	NC_000019.10:g.54984330_54984331insG	NC_000019.10:g.54984330_54984331insGTG	NC_000019.10:g.54984330_54984331insGTGTGTTG	NC_000019.10:g.54984330_54984331insGTGTGTTTTTTTTTTTTTTG	NC_000019.10:g.54984330_54984331insGTGTTG
GRCh37.p13 chr 19	NC_000019.9:g.55495698_55495699=	NC_000019.9:g.55495698_55495699insG	NC_000019.9:g.55495698_55495699insGTG	NC_000019.9:g.55495698_55495699insGTGTGTTG	NC_000019.9:g.55495698_55495699insGTGTGTTTTTTTTTTTTTTG	NC_000019.9:g.55495698_55495699insGTGTTG
NLRP2 RefSeqGene	NG_052633.1:g.36201_36202=	NG_052633.1:g.36201_36202insG	NG_052633.1:g.36201_36202insGTG	NG_052633.1:g.36201_36202insGTGTGTTG	NG_052633.1:g.36201_36202insGTGTGTTTTTTTTTTTTTTG	NG_052633.1:g.36201_36202insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.696491_696492=	NW_003571061.2:g.696491_696492insG	NW_003571061.2:g.696491_696492insGTG	NW_003571061.2:g.696491_696492insGTGTGTTG	NW_003571061.2:g.696491_696492insGTGTGTTTTTTTTTTTTTTG	NW_003571061.2:g.696491_696492insGTGTTG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.696490_696491=	NW_003571061.1:g.696490_696491insG	NW_003571061.1:g.696490_696491insGTG	NW_003571061.1:g.696490_696491insGTGTGTTG	NW_003571061.1:g.696490_696491insGTGTGTTTTTTTTTTTTTTG	NW_003571061.1:g.696490_696491insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.902695_902696=	NW_003571059.2:g.902695_902696insG	NW_003571059.2:g.902695_902696insGTG	NW_003571059.2:g.902695_902696insGTGTGTTG	NW_003571059.2:g.902695_902696insGTGTGTTTTTTTTTTTTTTG	NW_003571059.2:g.902695_902696insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.966402_966403=	NW_003571058.2:g.966402_966403insG	NW_003571058.2:g.966402_966403insGTG	NW_003571058.2:g.966402_966403insGTGTGTTG	NW_003571058.2:g.966402_966403insGTGTGTTTTTTTTTTTTTTG	NW_003571058.2:g.966402_966403insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.991853_991854=	NW_003571057.2:g.991853_991854insG	NW_003571057.2:g.991853_991854insGTG	NW_003571057.2:g.991853_991854insGTGTGTTG	NW_003571057.2:g.991853_991854insGTGTGTTTTTTTTTTTTTTG	NW_003571057.2:g.991853_991854insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.964316_964317=	NW_003571056.2:g.964316_964317insG	NW_003571056.2:g.964316_964317insGTG	NW_003571056.2:g.964316_964317insGTGTGTTG	NW_003571056.2:g.964316_964317insGTGTGTTTTTTTTTTTTTTG	NW_003571056.2:g.964316_964317insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.629532_629533=	NW_003571055.2:g.629532_629533insG	NW_003571055.2:g.629532_629533insGTG	NW_003571055.2:g.629532_629533insGTGTGTTG	NW_003571055.2:g.629532_629533insGTGTGTTTTTTTTTTTTTTG	NW_003571055.2:g.629532_629533insGTGTTG
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.629531_629532=	NW_003571055.1:g.629531_629532insG	NW_003571055.1:g.629531_629532insGTG	NW_003571055.1:g.629531_629532insGTGTGTTG	NW_003571055.1:g.629531_629532insGTGTGTTTTTTTTTTTTTTG	NW_003571055.1:g.629531_629532insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.887728_887729=	NW_003571054.1:g.887728_887729insG	NW_003571054.1:g.887728_887729insGTG	NW_003571054.1:g.887728_887729insGTGTGTTG	NW_003571054.1:g.887728_887729insGTGTGTTTTTTTTTTTTTTG	NW_003571054.1:g.887728_887729insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.966812_966813=	NT_187693.1:g.966812_966813insG	NT_187693.1:g.966812_966813insGTG	NT_187693.1:g.966812_966813insGTGTGTTG	NT_187693.1:g.966812_966813insGTGTGTTTTTTTTTTTTTTG	NT_187693.1:g.966812_966813insGTGTTG
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.887104_887105=	NW_003571060.1:g.887104_887105insG	NW_003571060.1:g.887104_887105insGTG	NW_003571060.1:g.887104_887105insGTGTGTTG	NW_003571060.1:g.887104_887105insGTGTGTTTTTTTTTTTTTTG	NW_003571060.1:g.887104_887105insGTGTTG
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.958698_958699=	NW_004166865.1:g.958698_958699insG	NW_004166865.1:g.958698_958699insGTG	NW_004166865.1:g.958698_958699insGTGTGTTG	NW_004166865.1:g.958698_958699insGTGTGTTTTTTTTTTTTTTG	NW_004166865.1:g.958698_958699insGTGTTG
NLRP2 transcript variant 2	NM_001174081.1:c.2030+603=	NM_001174081.1:c.2030+602_2030+603insG	NM_001174081.1:c.2030+602_2030+603insGTG	NM_001174081.1:c.2030+602_2030+603insGTGTGTTG	NM_001174081.1:c.2030+602_2030+603insGTGTGTTTTTTTTTTTTTTG	NM_001174081.1:c.2030+602_2030+603insGTGTTG
NLRP2 transcript variant 2	NM_001174081.3:c.2030+603=	NM_001174081.3:c.2030+602_2030+603insG	NM_001174081.3:c.2030+602_2030+603insGTG	NM_001174081.3:c.2030+602_2030+603insGTGTGTTG	NM_001174081.3:c.2030+602_2030+603insGTGTGTTTTTTTTTTTTTTG	NM_001174081.3:c.2030+602_2030+603insGTGTTG
NLRP2 transcript variant 3	NM_001174082.1:c.1964+603=	NM_001174082.1:c.1964+602_1964+603insG	NM_001174082.1:c.1964+602_1964+603insGTG	NM_001174082.1:c.1964+602_1964+603insGTGTGTTG	NM_001174082.1:c.1964+602_1964+603insGTGTGTTTTTTTTTTTTTTG	NM_001174082.1:c.1964+602_1964+603insGTGTTG
NLRP2 transcript variant 3	NM_001174082.3:c.1964+603=	NM_001174082.3:c.1964+602_1964+603insG	NM_001174082.3:c.1964+602_1964+603insGTG	NM_001174082.3:c.1964+602_1964+603insGTGTGTTG	NM_001174082.3:c.1964+602_1964+603insGTGTGTTTTTTTTTTTTTTG	NM_001174082.3:c.1964+602_1964+603insGTGTTG
NLRP2 transcript variant 4	NM_001174083.1:c.1961+603=	NM_001174083.1:c.1961+602_1961+603insG	NM_001174083.1:c.1961+602_1961+603insGTG	NM_001174083.1:c.1961+602_1961+603insGTGTGTTG	NM_001174083.1:c.1961+602_1961+603insGTGTGTTTTTTTTTTTTTTG	NM_001174083.1:c.1961+602_1961+603insGTGTTG
NLRP2 transcript variant 4	NM_001174083.2:c.1961+603=	NM_001174083.2:c.1961+602_1961+603insG	NM_001174083.2:c.1961+602_1961+603insGTG	NM_001174083.2:c.1961+602_1961+603insGTGTGTTG	NM_001174083.2:c.1961+602_1961+603insGTGTGTTTTTTTTTTTTTTG	NM_001174083.2:c.1961+602_1961+603insGTGTTG
NLRP2 transcript variant 5	NM_001348003.2:c.2021+603=	NM_001348003.2:c.2021+602_2021+603insG	NM_001348003.2:c.2021+602_2021+603insGTG	NM_001348003.2:c.2021+602_2021+603insGTGTGTTG	NM_001348003.2:c.2021+602_2021+603insGTGTGTTTTTTTTTTTTTTG	NM_001348003.2:c.2021+602_2021+603insGTGTTG
NLRP2 transcript variant 1	NM_017852.3:c.2030+603=	NM_017852.3:c.2030+602_2030+603insG	NM_017852.3:c.2030+602_2030+603insGTG	NM_017852.3:c.2030+602_2030+603insGTGTGTTG	NM_017852.3:c.2030+602_2030+603insGTGTGTTTTTTTTTTTTTTG	NM_017852.3:c.2030+602_2030+603insGTGTTG
NLRP2 transcript variant 1	NM_017852.5:c.2030+603=	NM_017852.5:c.2030+602_2030+603insG	NM_017852.5:c.2030+602_2030+603insGTG	NM_017852.5:c.2030+602_2030+603insGTGTGTTG	NM_017852.5:c.2030+602_2030+603insGTGTGTTTTTTTTTTTTTTG	NM_017852.5:c.2030+602_2030+603insGTGTTG
NLRP2 transcript variant X1	XM_005259050.1:c.2021+603=	XM_005259050.1:c.2021+602_2021+603insG	XM_005259050.1:c.2021+602_2021+603insGTG	XM_005259050.1:c.2021+602_2021+603insGTGTGTTG	XM_005259050.1:c.2021+602_2021+603insGTGTGTTTTTTTTTTTTTTG	XM_005259050.1:c.2021+602_2021+603insGTGTTG
NLRP2 transcript variant X2	XM_005277121.1:c.2021+603=	XM_005277121.1:c.2021+602_2021+603insG	XM_005277121.1:c.2021+602_2021+603insGTG	XM_005277121.1:c.2021+602_2021+603insGTGTGTTG	XM_005277121.1:c.2021+602_2021+603insGTGTGTTTTTTTTTTTTTTG	XM_005277121.1:c.2021+602_2021+603insGTGTTG
NLRP2 transcript variant X9	XM_005278284.1:c.2021+603=	XM_005278284.1:c.2021+602_2021+603insG	XM_005278284.1:c.2021+602_2021+603insGTG	XM_005278284.1:c.2021+602_2021+603insGTGTGTTG	XM_005278284.1:c.2021+602_2021+603insGTGTGTTTTTTTTTTTTTTG	XM_005278284.1:c.2021+602_2021+603insGTGTTG

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#.

7 SubSNP, 6 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_DECODE	ss3703019698	Jul 13, 2019 (153)
2	GNOMAD	ss4333309927	Apr 27, 2021 (155)
3	GNOMAD	ss4333309928	Apr 27, 2021 (155)
4	GNOMAD	ss4333309929	Apr 27, 2021 (155)
5	GNOMAD	ss4333309930	Apr 27, 2021 (155)
6	TOMMO_GENOMICS	ss5228358673	Apr 27, 2021 (155)
7	HUGCELL_USP	ss5500151355	Oct 16, 2022 (156)
8	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543516902 (NC_000019.10:54984330::G 176/12286) Row 543516903 (NC_000019.10:54984330::GTG 53/12302) Row 543516904 (NC_000019.10:54984330::GTGTGTTTTTTTTTTTTTTG 2/12302)...	-	Apr 27, 2021 (155)
9	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543516902 (NC_000019.10:54984330::G 176/12286) Row 543516903 (NC_000019.10:54984330::GTG 53/12302) Row 543516904 (NC_000019.10:54984330::GTGTGTTTTTTTTTTTTTTG 2/12302)...	-	Apr 27, 2021 (155)
10	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543516902 (NC_000019.10:54984330::G 176/12286) Row 543516903 (NC_000019.10:54984330::GTG 53/12302) Row 543516904 (NC_000019.10:54984330::GTGTGTTTTTTTTTTTTTTG 2/12302)...	-	Apr 27, 2021 (155)
11	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543516902 (NC_000019.10:54984330::G 176/12286) Row 543516903 (NC_000019.10:54984330::GTG 53/12302) Row 543516904 (NC_000019.10:54984330::GTGTGTTTTTTTTTTTTTTG 2/12302)...	-	Apr 27, 2021 (155)
12	8.3KJPN	NC_000019.9 - 55495699	Apr 27, 2021 (155)
13	ALFA	NC_000019.10 - 54984331	Apr 27, 2021 (155)

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
7139383511, ss3703019698, ss4333309927, ss5500151355	NC_000019.10:54984330::G	NC_000019.10:54984330::G	(self)
86327980, ss5228358673	NC_000019.9:55495698::GTG	NC_000019.10:54984330::GTG	(self)
7139383511, ss4333309928	NC_000019.10:54984330::GTG	NC_000019.10:54984330::GTG	(self)
7139383511	NC_000019.10:54984330::GTGTGTTG	NC_000019.10:54984330::GTGTGTTG	(self)
ss4333309929	NC_000019.10:54984330::GTGTGTTTTTT… NC_000019.10:54984330::GTGTGTTTTTTTTTTTTTTG	NC_000019.10:54984330::GTGTGTTTTTT… NC_000019.10:54984330::GTGTGTTTTTTTTTTTTTTG	(self)
ss4333309930	NC_000019.10:54984330::GTGTTG	NC_000019.10:54984330::GTGTTG	(self)

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

No publications for rs1491551086

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491551086