Name: rs34129339
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.

rs34129339

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:55000593-55000610 (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: del(A)₄ / delAAA / delAA / delA / …
del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₄=0.0000 (0/8416, ALFA)
delAAA=0.0000 (0/8416, ALFA)
delAA=0.0000 (0/8416, ALFA) (+ 6 more)
delA=0.0000 (0/8416, ALFA)
dupA=0.0000 (0/8416, ALFA)
dupAA=0.0000 (0/8416, ALFA)
dupAAA=0.0000 (0/8416, ALFA)
delA=0.105 (62/588, NorthernSweden)
delA=0.25 (10/40, GENOME_DK)

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	8416	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	5786	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	1838	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	78	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1760	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	62	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	50	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	12	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	88	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	272	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	66	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	304	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=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
Allele Frequency Aggregator	Total	Global	8416	(A)₁₈=1.0000	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	5786	(A)₁₈=1.0000	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	1838	(A)₁₈=1.0000	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Other	Sub	304	(A)₁₈=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	272	(A)₁₈=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	88	(A)₁₈=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	66	(A)₁₈=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	62	(A)₁₈=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Northern Sweden	ACPOP	Study-wide	588	(A)₁₈=0.895	delA=0.105
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₈=0.75	delA=0.25

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.55000607_55000610del
GRCh38.p14 chr 19	NC_000019.10:g.55000608_55000610del
GRCh38.p14 chr 19	NC_000019.10:g.55000609_55000610del
GRCh38.p14 chr 19	NC_000019.10:g.55000610del
GRCh38.p14 chr 19	NC_000019.10:g.55000610dup
GRCh38.p14 chr 19	NC_000019.10:g.55000609_55000610dup
GRCh38.p14 chr 19	NC_000019.10:g.55000608_55000610dup
GRCh37.p13 chr 19	NC_000019.9:g.55511975_55511978del
GRCh37.p13 chr 19	NC_000019.9:g.55511976_55511978del
GRCh37.p13 chr 19	NC_000019.9:g.55511977_55511978del
GRCh37.p13 chr 19	NC_000019.9:g.55511978del
GRCh37.p13 chr 19	NC_000019.9:g.55511978dup
GRCh37.p13 chr 19	NC_000019.9:g.55511977_55511978dup
GRCh37.p13 chr 19	NC_000019.9:g.55511976_55511978dup
NLRP2 RefSeqGene	NG_052633.1:g.52478_52481del
NLRP2 RefSeqGene	NG_052633.1:g.52479_52481del
NLRP2 RefSeqGene	NG_052633.1:g.52480_52481del
NLRP2 RefSeqGene	NG_052633.1:g.52481del
NLRP2 RefSeqGene	NG_052633.1:g.52481dup
NLRP2 RefSeqGene	NG_052633.1:g.52480_52481dup
NLRP2 RefSeqGene	NG_052633.1:g.52479_52481dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.712768_712771del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.712769_712771del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.712770_712771del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.712771del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.712771dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.712770_712771dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.712769_712771dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.712767_712770del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.712768_712770del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.712769_712770del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.712770del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.712770dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.712769_712770dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.712768_712770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.918972_918975del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.918973_918975del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.918974_918975del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.918975del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.918975dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.918974_918975dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.918973_918975dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.982679_982682del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.982680_982682del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.982681_982682del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.982682del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.982682dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.982681_982682dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.982680_982682dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.1008130_1008133del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.1008131_1008133del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.1008132_1008133del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.1008133del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.1008133dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.1008132_1008133dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.1008131_1008133dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.980593_980596del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.980594_980596del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.980595_980596del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.980596del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.980596dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.980595_980596dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.980594_980596dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.645809_645812del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.645810_645812del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.645811_645812del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.645812del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.645812dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.645811_645812dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.645810_645812dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.645808_645811del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.645809_645811del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.645810_645811del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.645811del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.645811dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.645810_645811dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.645809_645811dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.904005_904008del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.904006_904008del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.904007_904008del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.904008del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.904008dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.904007_904008dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.904006_904008dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.983089_983092del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.983090_983092del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.983091_983092del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.983092del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.983092dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.983091_983092dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.983090_983092dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.903389_903392del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.903390_903392del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.903391_903392del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.903392del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.903392dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.903391_903392dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.903390_903392dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.974975_974978del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.974976_974978del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.974977_974978del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.974978del
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.974978dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.974977_974978dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.974976_974978dup

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.3051-153… NM_001174081.3:c.3051-153_3051-150del	N/A	Intron Variant
NLRP2 transcript variant 3	NM_001174082.3:c.2985-153… NM_001174082.3:c.2985-153_2985-150del	N/A	Intron Variant
NLRP2 transcript variant 4	NM_001174083.2:c.2982-153… NM_001174083.2:c.2982-153_2982-150del	N/A	Intron Variant
NLRP2 transcript variant 5	NM_001348003.2:c.3042-153… NM_001348003.2:c.3042-153_3042-150del	N/A	Intron Variant
NLRP2 transcript variant 1	NM_017852.5:c.3051-153_30… NM_017852.5:c.3051-153_3051-150del	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	(A)₁₈=	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 19	NC_000019.10:g.55000593_55000610=	NC_000019.10:g.55000607_55000610del	NC_000019.10:g.55000608_55000610del	NC_000019.10:g.55000609_55000610del	NC_000019.10:g.55000610del	NC_000019.10:g.55000610dup	NC_000019.10:g.55000609_55000610dup	NC_000019.10:g.55000608_55000610dup
GRCh37.p13 chr 19	NC_000019.9:g.55511961_55511978=	NC_000019.9:g.55511975_55511978del	NC_000019.9:g.55511976_55511978del	NC_000019.9:g.55511977_55511978del	NC_000019.9:g.55511978del	NC_000019.9:g.55511978dup	NC_000019.9:g.55511977_55511978dup	NC_000019.9:g.55511976_55511978dup
NLRP2 RefSeqGene	NG_052633.1:g.52464_52481=	NG_052633.1:g.52478_52481del	NG_052633.1:g.52479_52481del	NG_052633.1:g.52480_52481del	NG_052633.1:g.52481del	NG_052633.1:g.52481dup	NG_052633.1:g.52480_52481dup	NG_052633.1:g.52479_52481dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1	NW_003571061.2:g.712754_712771=	NW_003571061.2:g.712768_712771del	NW_003571061.2:g.712769_712771del	NW_003571061.2:g.712770_712771del	NW_003571061.2:g.712771del	NW_003571061.2:g.712771dup	NW_003571061.2:g.712770_712771dup	NW_003571061.2:g.712769_712771dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1	NW_003571061.1:g.712753_712770=	NW_003571061.1:g.712767_712770del	NW_003571061.1:g.712768_712770del	NW_003571061.1:g.712769_712770del	NW_003571061.1:g.712770del	NW_003571061.1:g.712770dup	NW_003571061.1:g.712769_712770dup	NW_003571061.1:g.712768_712770dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1	NW_003571059.2:g.918958_918975=	NW_003571059.2:g.918972_918975del	NW_003571059.2:g.918973_918975del	NW_003571059.2:g.918974_918975del	NW_003571059.2:g.918975del	NW_003571059.2:g.918975dup	NW_003571059.2:g.918974_918975dup	NW_003571059.2:g.918973_918975dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1	NW_003571058.2:g.982665_982682=	NW_003571058.2:g.982679_982682del	NW_003571058.2:g.982680_982682del	NW_003571058.2:g.982681_982682del	NW_003571058.2:g.982682del	NW_003571058.2:g.982682dup	NW_003571058.2:g.982681_982682dup	NW_003571058.2:g.982680_982682dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1	NW_003571057.2:g.1008116_1008133=	NW_003571057.2:g.1008130_1008133del	NW_003571057.2:g.1008131_1008133del	NW_003571057.2:g.1008132_1008133del	NW_003571057.2:g.1008133del	NW_003571057.2:g.1008133dup	NW_003571057.2:g.1008132_1008133dup	NW_003571057.2:g.1008131_1008133dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1	NW_003571056.2:g.980579_980596=	NW_003571056.2:g.980593_980596del	NW_003571056.2:g.980594_980596del	NW_003571056.2:g.980595_980596del	NW_003571056.2:g.980596del	NW_003571056.2:g.980596dup	NW_003571056.2:g.980595_980596dup	NW_003571056.2:g.980594_980596dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1	NW_003571055.2:g.645795_645812=	NW_003571055.2:g.645809_645812del	NW_003571055.2:g.645810_645812del	NW_003571055.2:g.645811_645812del	NW_003571055.2:g.645812del	NW_003571055.2:g.645812dup	NW_003571055.2:g.645811_645812dup	NW_003571055.2:g.645810_645812dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1	NW_003571055.1:g.645794_645811=	NW_003571055.1:g.645808_645811del	NW_003571055.1:g.645809_645811del	NW_003571055.1:g.645810_645811del	NW_003571055.1:g.645811del	NW_003571055.1:g.645811dup	NW_003571055.1:g.645810_645811dup	NW_003571055.1:g.645809_645811dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1	NW_003571054.1:g.903991_904008=	NW_003571054.1:g.904005_904008del	NW_003571054.1:g.904006_904008del	NW_003571054.1:g.904007_904008del	NW_003571054.1:g.904008del	NW_003571054.1:g.904008dup	NW_003571054.1:g.904007_904008dup	NW_003571054.1:g.904006_904008dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1	NT_187693.1:g.983075_983092=	NT_187693.1:g.983089_983092del	NT_187693.1:g.983090_983092del	NT_187693.1:g.983091_983092del	NT_187693.1:g.983092del	NT_187693.1:g.983092dup	NT_187693.1:g.983091_983092dup	NT_187693.1:g.983090_983092dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1	NW_003571060.1:g.903375_903392=	NW_003571060.1:g.903389_903392del	NW_003571060.1:g.903390_903392del	NW_003571060.1:g.903391_903392del	NW_003571060.1:g.903392del	NW_003571060.1:g.903392dup	NW_003571060.1:g.903391_903392dup	NW_003571060.1:g.903390_903392dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH	NW_004166865.1:g.974961_974978=	NW_004166865.1:g.974975_974978del	NW_004166865.1:g.974976_974978del	NW_004166865.1:g.974977_974978del	NW_004166865.1:g.974978del	NW_004166865.1:g.974978dup	NW_004166865.1:g.974977_974978dup	NW_004166865.1:g.974976_974978dup
NLRP2 transcript variant 2	NM_001174081.1:c.3051-167=	NM_001174081.1:c.3051-153_3051-150del	NM_001174081.1:c.3051-152_3051-150del	NM_001174081.1:c.3051-151_3051-150del	NM_001174081.1:c.3051-150del	NM_001174081.1:c.3051-150dup	NM_001174081.1:c.3051-151_3051-150dup	NM_001174081.1:c.3051-152_3051-150dup
NLRP2 transcript variant 2	NM_001174081.3:c.3051-167=	NM_001174081.3:c.3051-153_3051-150del	NM_001174081.3:c.3051-152_3051-150del	NM_001174081.3:c.3051-151_3051-150del	NM_001174081.3:c.3051-150del	NM_001174081.3:c.3051-150dup	NM_001174081.3:c.3051-151_3051-150dup	NM_001174081.3:c.3051-152_3051-150dup
NLRP2 transcript variant 3	NM_001174082.1:c.2985-167=	NM_001174082.1:c.2985-153_2985-150del	NM_001174082.1:c.2985-152_2985-150del	NM_001174082.1:c.2985-151_2985-150del	NM_001174082.1:c.2985-150del	NM_001174082.1:c.2985-150dup	NM_001174082.1:c.2985-151_2985-150dup	NM_001174082.1:c.2985-152_2985-150dup
NLRP2 transcript variant 3	NM_001174082.3:c.2985-167=	NM_001174082.3:c.2985-153_2985-150del	NM_001174082.3:c.2985-152_2985-150del	NM_001174082.3:c.2985-151_2985-150del	NM_001174082.3:c.2985-150del	NM_001174082.3:c.2985-150dup	NM_001174082.3:c.2985-151_2985-150dup	NM_001174082.3:c.2985-152_2985-150dup
NLRP2 transcript variant 4	NM_001174083.1:c.2982-167=	NM_001174083.1:c.2982-153_2982-150del	NM_001174083.1:c.2982-152_2982-150del	NM_001174083.1:c.2982-151_2982-150del	NM_001174083.1:c.2982-150del	NM_001174083.1:c.2982-150dup	NM_001174083.1:c.2982-151_2982-150dup	NM_001174083.1:c.2982-152_2982-150dup
NLRP2 transcript variant 4	NM_001174083.2:c.2982-167=	NM_001174083.2:c.2982-153_2982-150del	NM_001174083.2:c.2982-152_2982-150del	NM_001174083.2:c.2982-151_2982-150del	NM_001174083.2:c.2982-150del	NM_001174083.2:c.2982-150dup	NM_001174083.2:c.2982-151_2982-150dup	NM_001174083.2:c.2982-152_2982-150dup
NLRP2 transcript variant 5	NM_001348003.2:c.3042-167=	NM_001348003.2:c.3042-153_3042-150del	NM_001348003.2:c.3042-152_3042-150del	NM_001348003.2:c.3042-151_3042-150del	NM_001348003.2:c.3042-150del	NM_001348003.2:c.3042-150dup	NM_001348003.2:c.3042-151_3042-150dup	NM_001348003.2:c.3042-152_3042-150dup
NLRP2 transcript variant 1	NM_017852.3:c.3051-167=	NM_017852.3:c.3051-153_3051-150del	NM_017852.3:c.3051-152_3051-150del	NM_017852.3:c.3051-151_3051-150del	NM_017852.3:c.3051-150del	NM_017852.3:c.3051-150dup	NM_017852.3:c.3051-151_3051-150dup	NM_017852.3:c.3051-152_3051-150dup
NLRP2 transcript variant 1	NM_017852.5:c.3051-167=	NM_017852.5:c.3051-153_3051-150del	NM_017852.5:c.3051-152_3051-150del	NM_017852.5:c.3051-151_3051-150del	NM_017852.5:c.3051-150del	NM_017852.5:c.3051-150dup	NM_017852.5:c.3051-151_3051-150dup	NM_017852.5:c.3051-152_3051-150dup
NLRP2 transcript variant X1	XM_005259050.1:c.3042-167=	XM_005259050.1:c.3042-153_3042-150del	XM_005259050.1:c.3042-152_3042-150del	XM_005259050.1:c.3042-151_3042-150del	XM_005259050.1:c.3042-150del	XM_005259050.1:c.3042-150dup	XM_005259050.1:c.3042-151_3042-150dup	XM_005259050.1:c.3042-152_3042-150dup
NLRP2 transcript variant X2	XM_005277121.1:c.3042-167=	XM_005277121.1:c.3042-153_3042-150del	XM_005277121.1:c.3042-152_3042-150del	XM_005277121.1:c.3042-151_3042-150del	XM_005277121.1:c.3042-150del	XM_005277121.1:c.3042-150dup	XM_005277121.1:c.3042-151_3042-150dup	XM_005277121.1:c.3042-152_3042-150dup
NLRP2 transcript variant X9	XM_005278284.1:c.3042-167=	XM_005278284.1:c.3042-153_3042-150del	XM_005278284.1:c.3042-152_3042-150del	XM_005278284.1:c.3042-151_3042-150del	XM_005278284.1:c.3042-150del	XM_005278284.1:c.3042-150dup	XM_005278284.1:c.3042-151_3042-150dup	XM_005278284.1:c.3042-152_3042-150dup

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#.

40 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40996324	Mar 13, 2006 (126)
2	HGSV	ss81724259	Apr 25, 2013 (138)
3	EVA_GENOME_DK	ss1575316144	Apr 01, 2015 (144)
4	MCHAISSO	ss3064770763	Nov 08, 2017 (151)
5	EVA_DECODE	ss3703020159	Jul 13, 2019 (153)
6	EVA_DECODE	ss3703020160	Jul 13, 2019 (153)
7	EVA_DECODE	ss3703020161	Jul 13, 2019 (153)
8	EVA_DECODE	ss3703020162	Jul 13, 2019 (153)
9	ACPOP	ss3743150792	Jul 13, 2019 (153)
10	PACBIO	ss3788568022	Jul 13, 2019 (153)
11	PACBIO	ss3793472487	Jul 13, 2019 (153)
12	PACBIO	ss3798359570	Jul 13, 2019 (153)
13	PACBIO	ss3798359571	Jul 13, 2019 (153)
14	EVA	ss3835528734	Apr 27, 2020 (154)
15	FSA-LAB	ss3984164378	Apr 27, 2021 (155)
16	GNOMAD	ss4333313295	Apr 27, 2021 (155)
17	GNOMAD	ss4333313296	Apr 27, 2021 (155)
18	GNOMAD	ss4333313297	Apr 27, 2021 (155)
19	GNOMAD	ss4333313298	Apr 27, 2021 (155)
20	GNOMAD	ss4333313299	Apr 27, 2021 (155)
21	GNOMAD	ss4333313300	Apr 27, 2021 (155)
22	GNOMAD	ss4333313301	Apr 27, 2021 (155)
23	TOMMO_GENOMICS	ss5228359666	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5228359667	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5228359668	Apr 27, 2021 (155)
26	EVA	ss5237249911	Apr 27, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5307710831	Oct 16, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5307710832	Oct 16, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5307710833	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5307710835	Oct 16, 2022 (156)
31	HUGCELL_USP	ss5500152069	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5500152070	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5500152072	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5500152073	Oct 16, 2022 (156)
35	EVA	ss5624095145	Oct 16, 2022 (156)
36	EVA	ss5624095146	Oct 16, 2022 (156)
37	TOMMO_GENOMICS	ss5787200852	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5787200854	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5787200855	Oct 16, 2022 (156)
40	EVA	ss5981067825	Oct 16, 2022 (156)
41	The Danish reference pan genome	NC_000019.9 - 55511961	Apr 27, 2020 (154)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543522375 (NC_000019.10:55000592::A 2038/110130) Row 543522376 (NC_000019.10:55000592::AA 943/110130) Row 543522377 (NC_000019.10:55000592::AAA 1/110140)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543522375 (NC_000019.10:55000592::A 2038/110130) Row 543522376 (NC_000019.10:55000592::AA 943/110130) Row 543522377 (NC_000019.10:55000592::AAA 1/110140)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543522375 (NC_000019.10:55000592::A 2038/110130) Row 543522376 (NC_000019.10:55000592::AA 943/110130) Row 543522377 (NC_000019.10:55000592::AAA 1/110140)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543522375 (NC_000019.10:55000592::A 2038/110130) Row 543522376 (NC_000019.10:55000592::AA 943/110130) Row 543522377 (NC_000019.10:55000592::AAA 1/110140)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543522375 (NC_000019.10:55000592::A 2038/110130) Row 543522376 (NC_000019.10:55000592::AA 943/110130) Row 543522377 (NC_000019.10:55000592::AAA 1/110140)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543522375 (NC_000019.10:55000592::A 2038/110130) Row 543522376 (NC_000019.10:55000592::AA 943/110130) Row 543522377 (NC_000019.10:55000592::AAA 1/110140)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 543522375 (NC_000019.10:55000592::A 2038/110130) Row 543522376 (NC_000019.10:55000592::AA 943/110130) Row 543522377 (NC_000019.10:55000592::AAA 1/110140)...	-	Apr 27, 2021 (155)
49	Northern Sweden	NC_000019.9 - 55511961	Jul 13, 2019 (153)
50	8.3KJPN Submission ignored due to conflicting rows: Row 86328973 (NC_000019.9:55511960:A: 3414/16730) Row 86328974 (NC_000019.9:55511960:AA: 9/16730) Row 86328975 (NC_000019.9:55511960::A 39/16730)	-	Apr 27, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 86328973 (NC_000019.9:55511960:A: 3414/16730) Row 86328974 (NC_000019.9:55511960:AA: 9/16730) Row 86328975 (NC_000019.9:55511960::A 39/16730)	-	Apr 27, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 86328973 (NC_000019.9:55511960:A: 3414/16730) Row 86328974 (NC_000019.9:55511960:AA: 9/16730) Row 86328975 (NC_000019.9:55511960::A 39/16730)	-	Apr 27, 2021 (155)
53	14KJPN Submission ignored due to conflicting rows: Row 121037956 (NC_000019.10:55000592:A: 5838/28256) Row 121037958 (NC_000019.10:55000592:AA: 14/28256) Row 121037959 (NC_000019.10:55000592::A 72/28256)	-	Oct 16, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 121037956 (NC_000019.10:55000592:A: 5838/28256) Row 121037958 (NC_000019.10:55000592:AA: 14/28256) Row 121037959 (NC_000019.10:55000592::A 72/28256)	-	Oct 16, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 121037956 (NC_000019.10:55000592:A: 5838/28256) Row 121037958 (NC_000019.10:55000592:AA: 14/28256) Row 121037959 (NC_000019.10:55000592::A 72/28256)	-	Oct 16, 2022 (156)
56	ALFA	NC_000019.10 - 55000593	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
ss4333313301	NC_000019.10:55000592:AAAA:	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
519182460	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3703020162, ss4333313300	NC_000019.10:55000592:AAA:	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
519182460	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3798359570, ss3984164378, ss5228359667, ss5624095145	NC_000019.9:55511960:AA:	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4333313299, ss5307710835, ss5500152070, ss5787200854	NC_000019.10:55000592:AA:	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
519182460	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3703020161	NC_000019.10:55000593:AA:	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
642159, 16435657, ss1575316144, ss3743150792, ss3788568022, ss3793472487, ss3798359571, ss3835528734, ss5228359666, ss5624095146, ss5981067825	NC_000019.9:55511960:A:	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3064770763, ss4333313298, ss5237249911, ss5307710831, ss5500152069, ss5787200852	NC_000019.10:55000592:A:	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
519182460	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3703020160	NC_000019.10:55000594:A:	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss40996324	NT_011109.16:27780178:A:	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5228359668	NC_000019.9:55511960::A	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4333313295, ss5307710833, ss5500152072, ss5787200855	NC_000019.10:55000592::A	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
519182460	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3703020159	NC_000019.10:55000595::A	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4333313296, ss5307710832, ss5500152073	NC_000019.10:55000592::AA	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
519182460	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss81724259	NT_011109.16:27780196::AA	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4333313297	NC_000019.10:55000592::AAA	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
519182460	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000019.10:55000592:AAAAAAAAAAAA… NC_000019.10:55000592:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(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 rs34129339

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs34129339