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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.

rs757893808

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:54998026-54998042 (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(T)11 / del(T)9 / del(T)7 / del…

del(T)11 / del(T)9 / del(T)7 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)6 / dup(T)7 / dup(T)8 / dup(T)9 / dup(T)10 / dup(T)11 / dup(T)12 / dup(T)16 / dup(T)17

Variation Type
Indel Insertion and Deletion
Frequency
dupTTT=0.07132 (735/10306, 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 Alt HMOZ HTRZ HWEP
Total Global 10306 TTTTTTTTTTTTTTTTT=0.90433 TTTTTT=0.00000, TTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.01485, TTTTTTTTTTTTTTTTTT=0.00116, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.07132, TTTTTTTTTTTTTTTTTTTTTTTT=0.00330, TTTTTTTTTTTTTTTTTTTTT=0.00388, TTTTTTTTTTTTTTTTTTTTTT=0.00116, TTTTTTTTTTTTTTTTTTTTTTT=0.00000 0.890199 0.025214 0.084587 32
European Sub 7850 TTTTTTTTTTTTTTTTT=0.8745 TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0195, TTTTTTTTTTTTTTTTTT=0.0015, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0935, TTTTTTTTTTTTTTTTTTTTTTTT=0.0043, TTTTTTTTTTTTTTTTTTTTT=0.0051, TTTTTTTTTTTTTTTTTTTTTT=0.0015, TTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.85393 0.033604 0.112466 32
African Sub 1768 TTTTTTTTTTTTTTTTT=1.0000 TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 86 TTTTTTTTTTTTTTTTT=1.00 TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 1682 TTTTTTTTTTTTTTTTT=1.0000 TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 68 TTTTTTTTTTTTTTTTT=1.00 TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 52 TTTTTTTTTTTTTTTTT=1.00 TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 16 TTTTTTTTTTTTTTTTT=1.00 TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 68 TTTTTTTTTTTTTTTTT=1.00 TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 258 TTTTTTTTTTTTTTTTT=1.000 TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 56 TTTTTTTTTTTTTTTTT=1.00 TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 238 TTTTTTTTTTTTTTTTT=0.996 TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.004, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 0.991597 0.0 0.008403 0


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
Allele Frequency Aggregator Total Global 10306 (T)17=0.90433 del(T)11=0.00000, del(T)9=0.00000, del(T)7=0.00000, del(T)4=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.01485, dupT=0.00116, dupTT=0.00000, dupTTT=0.07132, dup(T)4=0.00388, dup(T)5=0.00116, dup(T)6=0.00000, dup(T)7=0.00330
Allele Frequency Aggregator European Sub 7850 (T)17=0.8745 del(T)11=0.0000, del(T)9=0.0000, del(T)7=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0195, dupT=0.0015, dupTT=0.0000, dupTTT=0.0935, dup(T)4=0.0051, dup(T)5=0.0015, dup(T)6=0.0000, dup(T)7=0.0043
Allele Frequency Aggregator African Sub 1768 (T)17=1.0000 del(T)11=0.0000, del(T)9=0.0000, del(T)7=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0000, dup(T)5=0.0000, dup(T)6=0.0000, dup(T)7=0.0000
Allele Frequency Aggregator Latin American 2 Sub 258 (T)17=1.000 del(T)11=0.000, del(T)9=0.000, del(T)7=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)6=0.000, dup(T)7=0.000
Allele Frequency Aggregator Other Sub 238 (T)17=0.996 del(T)11=0.000, del(T)9=0.000, del(T)7=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.004, dup(T)4=0.000, dup(T)5=0.000, dup(T)6=0.000, dup(T)7=0.000
Allele Frequency Aggregator Latin American 1 Sub 68 (T)17=1.00 del(T)11=0.00, del(T)9=0.00, del(T)7=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)6=0.00, dup(T)7=0.00
Allele Frequency Aggregator Asian Sub 68 (T)17=1.00 del(T)11=0.00, del(T)9=0.00, del(T)7=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)6=0.00, dup(T)7=0.00
Allele Frequency Aggregator South Asian Sub 56 (T)17=1.00 del(T)11=0.00, del(T)9=0.00, del(T)7=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)6=0.00, dup(T)7=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 19 NC_000019.10:g.54998032_54998042del
GRCh38.p14 chr 19 NC_000019.10:g.54998034_54998042del
GRCh38.p14 chr 19 NC_000019.10:g.54998036_54998042del
GRCh38.p14 chr 19 NC_000019.10:g.54998039_54998042del
GRCh38.p14 chr 19 NC_000019.10:g.54998040_54998042del
GRCh38.p14 chr 19 NC_000019.10:g.54998041_54998042del
GRCh38.p14 chr 19 NC_000019.10:g.54998042del
GRCh38.p14 chr 19 NC_000019.10:g.54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998041_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998040_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998039_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998038_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998037_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998036_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998035_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998034_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998033_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998032_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998031_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998027_54998042dup
GRCh38.p14 chr 19 NC_000019.10:g.54998026_54998042dup
GRCh37.p13 chr 19 NC_000019.9:g.55509400_55509410del
GRCh37.p13 chr 19 NC_000019.9:g.55509402_55509410del
GRCh37.p13 chr 19 NC_000019.9:g.55509404_55509410del
GRCh37.p13 chr 19 NC_000019.9:g.55509407_55509410del
GRCh37.p13 chr 19 NC_000019.9:g.55509408_55509410del
GRCh37.p13 chr 19 NC_000019.9:g.55509409_55509410del
GRCh37.p13 chr 19 NC_000019.9:g.55509410del
GRCh37.p13 chr 19 NC_000019.9:g.55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509409_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509408_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509407_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509406_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509405_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509404_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509403_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509402_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509401_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509400_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509399_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509395_55509410dup
GRCh37.p13 chr 19 NC_000019.9:g.55509394_55509410dup
NLRP2 RefSeqGene NG_052633.1:g.49903_49913del
NLRP2 RefSeqGene NG_052633.1:g.49905_49913del
NLRP2 RefSeqGene NG_052633.1:g.49907_49913del
NLRP2 RefSeqGene NG_052633.1:g.49910_49913del
NLRP2 RefSeqGene NG_052633.1:g.49911_49913del
NLRP2 RefSeqGene NG_052633.1:g.49912_49913del
NLRP2 RefSeqGene NG_052633.1:g.49913del
NLRP2 RefSeqGene NG_052633.1:g.49913dup
NLRP2 RefSeqGene NG_052633.1:g.49912_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49911_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49910_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49909_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49908_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49907_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49906_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49905_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49904_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49903_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49902_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49898_49913dup
NLRP2 RefSeqGene NG_052633.1:g.49897_49913dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710193_710203del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710195_710203del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710197_710203del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710200_710203del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710201_710203del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710202_710203del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710203del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710202_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710201_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710200_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710199_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710198_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710197_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710196_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710195_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710194_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710193_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710192_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710188_710203dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710187_710203dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710192_710202del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710194_710202del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710196_710202del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710199_710202del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710200_710202del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710201_710202del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710202del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710201_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710200_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710199_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710198_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710197_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710196_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710195_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710194_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710193_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710192_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710191_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710187_710202dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710186_710202dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916397_916407del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916399_916407del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916401_916407del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916404_916407del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916405_916407del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916406_916407del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916407del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916406_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916405_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916404_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916403_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916402_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916401_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916400_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916399_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916398_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916397_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916396_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916392_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916391_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980104_980114del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980106_980114del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980108_980114del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980111_980114del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980112_980114del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980113_980114del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980114del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980113_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980112_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980111_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980110_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980109_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980108_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980107_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980106_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980105_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980104_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980103_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980099_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980098_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005555_1005565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005557_1005565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005559_1005565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005562_1005565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005563_1005565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005564_1005565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005565del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005564_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005563_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005562_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005561_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005560_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005559_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005558_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005557_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005556_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005555_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005554_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005550_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005549_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978018_978028del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978020_978028del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978022_978028del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978025_978028del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978026_978028del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978027_978028del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978028del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978027_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978026_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978025_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978024_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978023_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978022_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978021_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978020_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978019_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978018_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978017_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978013_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978012_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643234_643244del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643236_643244del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643238_643244del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643241_643244del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643242_643244del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643243_643244del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643244del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643243_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643242_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643241_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643240_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643239_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643238_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643237_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643236_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643235_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643234_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643233_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643229_643244dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643228_643244dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643233_643243del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643235_643243del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643237_643243del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643240_643243del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643241_643243del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643242_643243del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643243del
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643242_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643241_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643240_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643239_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643238_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643237_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643236_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643235_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643234_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643233_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643232_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643228_643243dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643227_643243dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901430_901440del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901432_901440del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901434_901440del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901437_901440del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901438_901440del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901439_901440del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901440del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901439_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901438_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901437_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901436_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901435_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901434_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901433_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901432_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901431_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901430_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901429_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901425_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901424_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980514_980524del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980516_980524del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980518_980524del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980521_980524del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980522_980524del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980523_980524del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980524del
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980523_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980522_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980521_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980520_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980519_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980518_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980517_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980516_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980515_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980514_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980513_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980509_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980508_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900814_900824del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900816_900824del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900818_900824del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900821_900824del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900822_900824del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900823_900824del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900824del
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900823_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900822_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900821_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900820_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900819_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900818_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900817_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900816_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900815_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900814_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900813_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900809_900824dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900808_900824dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972400_972410del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972402_972410del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972404_972410del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972407_972410del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972408_972410del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972409_972410del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972410del
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972409_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972408_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972407_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972406_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972405_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972404_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972403_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972402_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972401_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972400_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972399_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972395_972410dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972394_972410dup
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.3050+545…

NM_001174081.3:c.3050+545_3050+555del

N/A Intron Variant
NLRP2 transcript variant 3 NM_001174082.3:c.2984+545…

NM_001174082.3:c.2984+545_2984+555del

N/A Intron Variant
NLRP2 transcript variant 4 NM_001174083.2:c.2981+545…

NM_001174083.2:c.2981+545_2981+555del

N/A Intron Variant
NLRP2 transcript variant 5 NM_001348003.2:c.3041+545…

NM_001348003.2:c.3041+545_3041+555del

N/A Intron Variant
NLRP2 transcript variant 1 NM_017852.5:c.3050+545_30…

NM_017852.5:c.3050+545_3050+555del

N/A Intron Variant
NLRP2 transcript variant 6 NR_145325.2:n. N/A Intron 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.

Not Reported in ClinVar
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 (T)17= del(T)11 del(T)9 del(T)7 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)6 dup(T)7 dup(T)8 dup(T)9 dup(T)10 dup(T)11 dup(T)12 dup(T)16 dup(T)17
GRCh38.p14 chr 19 NC_000019.10:g.54998026_54998042= NC_000019.10:g.54998032_54998042del NC_000019.10:g.54998034_54998042del NC_000019.10:g.54998036_54998042del NC_000019.10:g.54998039_54998042del NC_000019.10:g.54998040_54998042del NC_000019.10:g.54998041_54998042del NC_000019.10:g.54998042del NC_000019.10:g.54998042dup NC_000019.10:g.54998041_54998042dup NC_000019.10:g.54998040_54998042dup NC_000019.10:g.54998039_54998042dup NC_000019.10:g.54998038_54998042dup NC_000019.10:g.54998037_54998042dup NC_000019.10:g.54998036_54998042dup NC_000019.10:g.54998035_54998042dup NC_000019.10:g.54998034_54998042dup NC_000019.10:g.54998033_54998042dup NC_000019.10:g.54998032_54998042dup NC_000019.10:g.54998031_54998042dup NC_000019.10:g.54998027_54998042dup NC_000019.10:g.54998026_54998042dup
GRCh37.p13 chr 19 NC_000019.9:g.55509394_55509410= NC_000019.9:g.55509400_55509410del NC_000019.9:g.55509402_55509410del NC_000019.9:g.55509404_55509410del NC_000019.9:g.55509407_55509410del NC_000019.9:g.55509408_55509410del NC_000019.9:g.55509409_55509410del NC_000019.9:g.55509410del NC_000019.9:g.55509410dup NC_000019.9:g.55509409_55509410dup NC_000019.9:g.55509408_55509410dup NC_000019.9:g.55509407_55509410dup NC_000019.9:g.55509406_55509410dup NC_000019.9:g.55509405_55509410dup NC_000019.9:g.55509404_55509410dup NC_000019.9:g.55509403_55509410dup NC_000019.9:g.55509402_55509410dup NC_000019.9:g.55509401_55509410dup NC_000019.9:g.55509400_55509410dup NC_000019.9:g.55509399_55509410dup NC_000019.9:g.55509395_55509410dup NC_000019.9:g.55509394_55509410dup
NLRP2 RefSeqGene NG_052633.1:g.49897_49913= NG_052633.1:g.49903_49913del NG_052633.1:g.49905_49913del NG_052633.1:g.49907_49913del NG_052633.1:g.49910_49913del NG_052633.1:g.49911_49913del NG_052633.1:g.49912_49913del NG_052633.1:g.49913del NG_052633.1:g.49913dup NG_052633.1:g.49912_49913dup NG_052633.1:g.49911_49913dup NG_052633.1:g.49910_49913dup NG_052633.1:g.49909_49913dup NG_052633.1:g.49908_49913dup NG_052633.1:g.49907_49913dup NG_052633.1:g.49906_49913dup NG_052633.1:g.49905_49913dup NG_052633.1:g.49904_49913dup NG_052633.1:g.49903_49913dup NG_052633.1:g.49902_49913dup NG_052633.1:g.49898_49913dup NG_052633.1:g.49897_49913dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.710187_710203= NW_003571061.2:g.710193_710203del NW_003571061.2:g.710195_710203del NW_003571061.2:g.710197_710203del NW_003571061.2:g.710200_710203del NW_003571061.2:g.710201_710203del NW_003571061.2:g.710202_710203del NW_003571061.2:g.710203del NW_003571061.2:g.710203dup NW_003571061.2:g.710202_710203dup NW_003571061.2:g.710201_710203dup NW_003571061.2:g.710200_710203dup NW_003571061.2:g.710199_710203dup NW_003571061.2:g.710198_710203dup NW_003571061.2:g.710197_710203dup NW_003571061.2:g.710196_710203dup NW_003571061.2:g.710195_710203dup NW_003571061.2:g.710194_710203dup NW_003571061.2:g.710193_710203dup NW_003571061.2:g.710192_710203dup NW_003571061.2:g.710188_710203dup NW_003571061.2:g.710187_710203dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.710186_710202= NW_003571061.1:g.710192_710202del NW_003571061.1:g.710194_710202del NW_003571061.1:g.710196_710202del NW_003571061.1:g.710199_710202del NW_003571061.1:g.710200_710202del NW_003571061.1:g.710201_710202del NW_003571061.1:g.710202del NW_003571061.1:g.710202dup NW_003571061.1:g.710201_710202dup NW_003571061.1:g.710200_710202dup NW_003571061.1:g.710199_710202dup NW_003571061.1:g.710198_710202dup NW_003571061.1:g.710197_710202dup NW_003571061.1:g.710196_710202dup NW_003571061.1:g.710195_710202dup NW_003571061.1:g.710194_710202dup NW_003571061.1:g.710193_710202dup NW_003571061.1:g.710192_710202dup NW_003571061.1:g.710191_710202dup NW_003571061.1:g.710187_710202dup NW_003571061.1:g.710186_710202dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_T_CTG3_1 NW_003571059.2:g.916391_916407= NW_003571059.2:g.916397_916407del NW_003571059.2:g.916399_916407del NW_003571059.2:g.916401_916407del NW_003571059.2:g.916404_916407del NW_003571059.2:g.916405_916407del NW_003571059.2:g.916406_916407del NW_003571059.2:g.916407del NW_003571059.2:g.916407dup NW_003571059.2:g.916406_916407dup NW_003571059.2:g.916405_916407dup NW_003571059.2:g.916404_916407dup NW_003571059.2:g.916403_916407dup NW_003571059.2:g.916402_916407dup NW_003571059.2:g.916401_916407dup NW_003571059.2:g.916400_916407dup NW_003571059.2:g.916399_916407dup NW_003571059.2:g.916398_916407dup NW_003571059.2:g.916397_916407dup NW_003571059.2:g.916396_916407dup NW_003571059.2:g.916392_916407dup NW_003571059.2:g.916391_916407dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_S_CTG3_1 NW_003571058.2:g.980098_980114= NW_003571058.2:g.980104_980114del NW_003571058.2:g.980106_980114del NW_003571058.2:g.980108_980114del NW_003571058.2:g.980111_980114del NW_003571058.2:g.980112_980114del NW_003571058.2:g.980113_980114del NW_003571058.2:g.980114del NW_003571058.2:g.980114dup NW_003571058.2:g.980113_980114dup NW_003571058.2:g.980112_980114dup NW_003571058.2:g.980111_980114dup NW_003571058.2:g.980110_980114dup NW_003571058.2:g.980109_980114dup NW_003571058.2:g.980108_980114dup NW_003571058.2:g.980107_980114dup NW_003571058.2:g.980106_980114dup NW_003571058.2:g.980105_980114dup NW_003571058.2:g.980104_980114dup NW_003571058.2:g.980103_980114dup NW_003571058.2:g.980099_980114dup NW_003571058.2:g.980098_980114dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_J_CTG3_1 NW_003571057.2:g.1005549_1005565= NW_003571057.2:g.1005555_1005565del NW_003571057.2:g.1005557_1005565del NW_003571057.2:g.1005559_1005565del NW_003571057.2:g.1005562_1005565del NW_003571057.2:g.1005563_1005565del NW_003571057.2:g.1005564_1005565del NW_003571057.2:g.1005565del NW_003571057.2:g.1005565dup NW_003571057.2:g.1005564_1005565dup NW_003571057.2:g.1005563_1005565dup NW_003571057.2:g.1005562_1005565dup NW_003571057.2:g.1005561_1005565dup NW_003571057.2:g.1005560_1005565dup NW_003571057.2:g.1005559_1005565dup NW_003571057.2:g.1005558_1005565dup NW_003571057.2:g.1005557_1005565dup NW_003571057.2:g.1005556_1005565dup NW_003571057.2:g.1005555_1005565dup NW_003571057.2:g.1005554_1005565dup NW_003571057.2:g.1005550_1005565dup NW_003571057.2:g.1005549_1005565dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_LRC_I_CTG3_1 NW_003571056.2:g.978012_978028= NW_003571056.2:g.978018_978028del NW_003571056.2:g.978020_978028del NW_003571056.2:g.978022_978028del NW_003571056.2:g.978025_978028del NW_003571056.2:g.978026_978028del NW_003571056.2:g.978027_978028del NW_003571056.2:g.978028del NW_003571056.2:g.978028dup NW_003571056.2:g.978027_978028dup NW_003571056.2:g.978026_978028dup NW_003571056.2:g.978025_978028dup NW_003571056.2:g.978024_978028dup NW_003571056.2:g.978023_978028dup NW_003571056.2:g.978022_978028dup NW_003571056.2:g.978021_978028dup NW_003571056.2:g.978020_978028dup NW_003571056.2:g.978019_978028dup NW_003571056.2:g.978018_978028dup NW_003571056.2:g.978017_978028dup NW_003571056.2:g.978013_978028dup NW_003571056.2:g.978012_978028dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.643228_643244= NW_003571055.2:g.643234_643244del NW_003571055.2:g.643236_643244del NW_003571055.2:g.643238_643244del NW_003571055.2:g.643241_643244del NW_003571055.2:g.643242_643244del NW_003571055.2:g.643243_643244del NW_003571055.2:g.643244del NW_003571055.2:g.643244dup NW_003571055.2:g.643243_643244dup NW_003571055.2:g.643242_643244dup NW_003571055.2:g.643241_643244dup NW_003571055.2:g.643240_643244dup NW_003571055.2:g.643239_643244dup NW_003571055.2:g.643238_643244dup NW_003571055.2:g.643237_643244dup NW_003571055.2:g.643236_643244dup NW_003571055.2:g.643235_643244dup NW_003571055.2:g.643234_643244dup NW_003571055.2:g.643233_643244dup NW_003571055.2:g.643229_643244dup NW_003571055.2:g.643228_643244dup
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.643227_643243= NW_003571055.1:g.643233_643243del NW_003571055.1:g.643235_643243del NW_003571055.1:g.643237_643243del NW_003571055.1:g.643240_643243del NW_003571055.1:g.643241_643243del NW_003571055.1:g.643242_643243del NW_003571055.1:g.643243del NW_003571055.1:g.643243dup NW_003571055.1:g.643242_643243dup NW_003571055.1:g.643241_643243dup NW_003571055.1:g.643240_643243dup NW_003571055.1:g.643239_643243dup NW_003571055.1:g.643238_643243dup NW_003571055.1:g.643237_643243dup NW_003571055.1:g.643236_643243dup NW_003571055.1:g.643235_643243dup NW_003571055.1:g.643234_643243dup NW_003571055.1:g.643233_643243dup NW_003571055.1:g.643232_643243dup NW_003571055.1:g.643228_643243dup NW_003571055.1:g.643227_643243dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX1_CTG3_1 NW_003571054.1:g.901424_901440= NW_003571054.1:g.901430_901440del NW_003571054.1:g.901432_901440del NW_003571054.1:g.901434_901440del NW_003571054.1:g.901437_901440del NW_003571054.1:g.901438_901440del NW_003571054.1:g.901439_901440del NW_003571054.1:g.901440del NW_003571054.1:g.901440dup NW_003571054.1:g.901439_901440dup NW_003571054.1:g.901438_901440dup NW_003571054.1:g.901437_901440dup NW_003571054.1:g.901436_901440dup NW_003571054.1:g.901435_901440dup NW_003571054.1:g.901434_901440dup NW_003571054.1:g.901433_901440dup NW_003571054.1:g.901432_901440dup NW_003571054.1:g.901431_901440dup NW_003571054.1:g.901430_901440dup NW_003571054.1:g.901429_901440dup NW_003571054.1:g.901425_901440dup NW_003571054.1:g.901424_901440dup
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.980508_980524= NT_187693.1:g.980514_980524del NT_187693.1:g.980516_980524del NT_187693.1:g.980518_980524del NT_187693.1:g.980521_980524del NT_187693.1:g.980522_980524del NT_187693.1:g.980523_980524del NT_187693.1:g.980524del NT_187693.1:g.980524dup NT_187693.1:g.980523_980524dup NT_187693.1:g.980522_980524dup NT_187693.1:g.980521_980524dup NT_187693.1:g.980520_980524dup NT_187693.1:g.980519_980524dup NT_187693.1:g.980518_980524dup NT_187693.1:g.980517_980524dup NT_187693.1:g.980516_980524dup NT_187693.1:g.980515_980524dup NT_187693.1:g.980514_980524dup NT_187693.1:g.980513_980524dup NT_187693.1:g.980509_980524dup NT_187693.1:g.980508_980524dup
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.900808_900824= NW_003571060.1:g.900814_900824del NW_003571060.1:g.900816_900824del NW_003571060.1:g.900818_900824del NW_003571060.1:g.900821_900824del NW_003571060.1:g.900822_900824del NW_003571060.1:g.900823_900824del NW_003571060.1:g.900824del NW_003571060.1:g.900824dup NW_003571060.1:g.900823_900824dup NW_003571060.1:g.900822_900824dup NW_003571060.1:g.900821_900824dup NW_003571060.1:g.900820_900824dup NW_003571060.1:g.900819_900824dup NW_003571060.1:g.900818_900824dup NW_003571060.1:g.900817_900824dup NW_003571060.1:g.900816_900824dup NW_003571060.1:g.900815_900824dup NW_003571060.1:g.900814_900824dup NW_003571060.1:g.900813_900824dup NW_003571060.1:g.900809_900824dup NW_003571060.1:g.900808_900824dup
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.972394_972410= NW_004166865.1:g.972400_972410del NW_004166865.1:g.972402_972410del NW_004166865.1:g.972404_972410del NW_004166865.1:g.972407_972410del NW_004166865.1:g.972408_972410del NW_004166865.1:g.972409_972410del NW_004166865.1:g.972410del NW_004166865.1:g.972410dup NW_004166865.1:g.972409_972410dup NW_004166865.1:g.972408_972410dup NW_004166865.1:g.972407_972410dup NW_004166865.1:g.972406_972410dup NW_004166865.1:g.972405_972410dup NW_004166865.1:g.972404_972410dup NW_004166865.1:g.972403_972410dup NW_004166865.1:g.972402_972410dup NW_004166865.1:g.972401_972410dup NW_004166865.1:g.972400_972410dup NW_004166865.1:g.972399_972410dup NW_004166865.1:g.972395_972410dup NW_004166865.1:g.972394_972410dup
NLRP2 transcript variant 2 NM_001174081.1:c.3050+539= NM_001174081.1:c.3050+545_3050+555del NM_001174081.1:c.3050+547_3050+555del NM_001174081.1:c.3050+549_3050+555del NM_001174081.1:c.3050+552_3050+555del NM_001174081.1:c.3050+553_3050+555del NM_001174081.1:c.3050+554_3050+555del NM_001174081.1:c.3050+555del NM_001174081.1:c.3050+555dup NM_001174081.1:c.3050+554_3050+555dup NM_001174081.1:c.3050+553_3050+555dup NM_001174081.1:c.3050+552_3050+555dup NM_001174081.1:c.3050+551_3050+555dup NM_001174081.1:c.3050+550_3050+555dup NM_001174081.1:c.3050+549_3050+555dup NM_001174081.1:c.3050+548_3050+555dup NM_001174081.1:c.3050+547_3050+555dup NM_001174081.1:c.3050+546_3050+555dup NM_001174081.1:c.3050+545_3050+555dup NM_001174081.1:c.3050+544_3050+555dup NM_001174081.1:c.3050+540_3050+555dup NM_001174081.1:c.3050+539_3050+555dup
NLRP2 transcript variant 2 NM_001174081.3:c.3050+539= NM_001174081.3:c.3050+545_3050+555del NM_001174081.3:c.3050+547_3050+555del NM_001174081.3:c.3050+549_3050+555del NM_001174081.3:c.3050+552_3050+555del NM_001174081.3:c.3050+553_3050+555del NM_001174081.3:c.3050+554_3050+555del NM_001174081.3:c.3050+555del NM_001174081.3:c.3050+555dup NM_001174081.3:c.3050+554_3050+555dup NM_001174081.3:c.3050+553_3050+555dup NM_001174081.3:c.3050+552_3050+555dup NM_001174081.3:c.3050+551_3050+555dup NM_001174081.3:c.3050+550_3050+555dup NM_001174081.3:c.3050+549_3050+555dup NM_001174081.3:c.3050+548_3050+555dup NM_001174081.3:c.3050+547_3050+555dup NM_001174081.3:c.3050+546_3050+555dup NM_001174081.3:c.3050+545_3050+555dup NM_001174081.3:c.3050+544_3050+555dup NM_001174081.3:c.3050+540_3050+555dup NM_001174081.3:c.3050+539_3050+555dup
NLRP2 transcript variant 3 NM_001174082.1:c.2984+539= NM_001174082.1:c.2984+545_2984+555del NM_001174082.1:c.2984+547_2984+555del NM_001174082.1:c.2984+549_2984+555del NM_001174082.1:c.2984+552_2984+555del NM_001174082.1:c.2984+553_2984+555del NM_001174082.1:c.2984+554_2984+555del NM_001174082.1:c.2984+555del NM_001174082.1:c.2984+555dup NM_001174082.1:c.2984+554_2984+555dup NM_001174082.1:c.2984+553_2984+555dup NM_001174082.1:c.2984+552_2984+555dup NM_001174082.1:c.2984+551_2984+555dup NM_001174082.1:c.2984+550_2984+555dup NM_001174082.1:c.2984+549_2984+555dup NM_001174082.1:c.2984+548_2984+555dup NM_001174082.1:c.2984+547_2984+555dup NM_001174082.1:c.2984+546_2984+555dup NM_001174082.1:c.2984+545_2984+555dup NM_001174082.1:c.2984+544_2984+555dup NM_001174082.1:c.2984+540_2984+555dup NM_001174082.1:c.2984+539_2984+555dup
NLRP2 transcript variant 3 NM_001174082.3:c.2984+539= NM_001174082.3:c.2984+545_2984+555del NM_001174082.3:c.2984+547_2984+555del NM_001174082.3:c.2984+549_2984+555del NM_001174082.3:c.2984+552_2984+555del NM_001174082.3:c.2984+553_2984+555del NM_001174082.3:c.2984+554_2984+555del NM_001174082.3:c.2984+555del NM_001174082.3:c.2984+555dup NM_001174082.3:c.2984+554_2984+555dup NM_001174082.3:c.2984+553_2984+555dup NM_001174082.3:c.2984+552_2984+555dup NM_001174082.3:c.2984+551_2984+555dup NM_001174082.3:c.2984+550_2984+555dup NM_001174082.3:c.2984+549_2984+555dup NM_001174082.3:c.2984+548_2984+555dup NM_001174082.3:c.2984+547_2984+555dup NM_001174082.3:c.2984+546_2984+555dup NM_001174082.3:c.2984+545_2984+555dup NM_001174082.3:c.2984+544_2984+555dup NM_001174082.3:c.2984+540_2984+555dup NM_001174082.3:c.2984+539_2984+555dup
NLRP2 transcript variant 4 NM_001174083.1:c.2981+539= NM_001174083.1:c.2981+545_2981+555del NM_001174083.1:c.2981+547_2981+555del NM_001174083.1:c.2981+549_2981+555del NM_001174083.1:c.2981+552_2981+555del NM_001174083.1:c.2981+553_2981+555del NM_001174083.1:c.2981+554_2981+555del NM_001174083.1:c.2981+555del NM_001174083.1:c.2981+555dup NM_001174083.1:c.2981+554_2981+555dup NM_001174083.1:c.2981+553_2981+555dup NM_001174083.1:c.2981+552_2981+555dup NM_001174083.1:c.2981+551_2981+555dup NM_001174083.1:c.2981+550_2981+555dup NM_001174083.1:c.2981+549_2981+555dup NM_001174083.1:c.2981+548_2981+555dup NM_001174083.1:c.2981+547_2981+555dup NM_001174083.1:c.2981+546_2981+555dup NM_001174083.1:c.2981+545_2981+555dup NM_001174083.1:c.2981+544_2981+555dup NM_001174083.1:c.2981+540_2981+555dup NM_001174083.1:c.2981+539_2981+555dup
NLRP2 transcript variant 4 NM_001174083.2:c.2981+539= NM_001174083.2:c.2981+545_2981+555del NM_001174083.2:c.2981+547_2981+555del NM_001174083.2:c.2981+549_2981+555del NM_001174083.2:c.2981+552_2981+555del NM_001174083.2:c.2981+553_2981+555del NM_001174083.2:c.2981+554_2981+555del NM_001174083.2:c.2981+555del NM_001174083.2:c.2981+555dup NM_001174083.2:c.2981+554_2981+555dup NM_001174083.2:c.2981+553_2981+555dup NM_001174083.2:c.2981+552_2981+555dup NM_001174083.2:c.2981+551_2981+555dup NM_001174083.2:c.2981+550_2981+555dup NM_001174083.2:c.2981+549_2981+555dup NM_001174083.2:c.2981+548_2981+555dup NM_001174083.2:c.2981+547_2981+555dup NM_001174083.2:c.2981+546_2981+555dup NM_001174083.2:c.2981+545_2981+555dup NM_001174083.2:c.2981+544_2981+555dup NM_001174083.2:c.2981+540_2981+555dup NM_001174083.2:c.2981+539_2981+555dup
NLRP2 transcript variant 5 NM_001348003.2:c.3041+539= NM_001348003.2:c.3041+545_3041+555del NM_001348003.2:c.3041+547_3041+555del NM_001348003.2:c.3041+549_3041+555del NM_001348003.2:c.3041+552_3041+555del NM_001348003.2:c.3041+553_3041+555del NM_001348003.2:c.3041+554_3041+555del NM_001348003.2:c.3041+555del NM_001348003.2:c.3041+555dup NM_001348003.2:c.3041+554_3041+555dup NM_001348003.2:c.3041+553_3041+555dup NM_001348003.2:c.3041+552_3041+555dup NM_001348003.2:c.3041+551_3041+555dup NM_001348003.2:c.3041+550_3041+555dup NM_001348003.2:c.3041+549_3041+555dup NM_001348003.2:c.3041+548_3041+555dup NM_001348003.2:c.3041+547_3041+555dup NM_001348003.2:c.3041+546_3041+555dup NM_001348003.2:c.3041+545_3041+555dup NM_001348003.2:c.3041+544_3041+555dup NM_001348003.2:c.3041+540_3041+555dup NM_001348003.2:c.3041+539_3041+555dup
NLRP2 transcript variant 1 NM_017852.3:c.3050+539= NM_017852.3:c.3050+545_3050+555del NM_017852.3:c.3050+547_3050+555del NM_017852.3:c.3050+549_3050+555del NM_017852.3:c.3050+552_3050+555del NM_017852.3:c.3050+553_3050+555del NM_017852.3:c.3050+554_3050+555del NM_017852.3:c.3050+555del NM_017852.3:c.3050+555dup NM_017852.3:c.3050+554_3050+555dup NM_017852.3:c.3050+553_3050+555dup NM_017852.3:c.3050+552_3050+555dup NM_017852.3:c.3050+551_3050+555dup NM_017852.3:c.3050+550_3050+555dup NM_017852.3:c.3050+549_3050+555dup NM_017852.3:c.3050+548_3050+555dup NM_017852.3:c.3050+547_3050+555dup NM_017852.3:c.3050+546_3050+555dup NM_017852.3:c.3050+545_3050+555dup NM_017852.3:c.3050+544_3050+555dup NM_017852.3:c.3050+540_3050+555dup NM_017852.3:c.3050+539_3050+555dup
NLRP2 transcript variant 1 NM_017852.5:c.3050+539= NM_017852.5:c.3050+545_3050+555del NM_017852.5:c.3050+547_3050+555del NM_017852.5:c.3050+549_3050+555del NM_017852.5:c.3050+552_3050+555del NM_017852.5:c.3050+553_3050+555del NM_017852.5:c.3050+554_3050+555del NM_017852.5:c.3050+555del NM_017852.5:c.3050+555dup NM_017852.5:c.3050+554_3050+555dup NM_017852.5:c.3050+553_3050+555dup NM_017852.5:c.3050+552_3050+555dup NM_017852.5:c.3050+551_3050+555dup NM_017852.5:c.3050+550_3050+555dup NM_017852.5:c.3050+549_3050+555dup NM_017852.5:c.3050+548_3050+555dup NM_017852.5:c.3050+547_3050+555dup NM_017852.5:c.3050+546_3050+555dup NM_017852.5:c.3050+545_3050+555dup NM_017852.5:c.3050+544_3050+555dup NM_017852.5:c.3050+540_3050+555dup NM_017852.5:c.3050+539_3050+555dup
NLRP2 transcript variant X1 XM_005259050.1:c.3041+539= XM_005259050.1:c.3041+545_3041+555del XM_005259050.1:c.3041+547_3041+555del XM_005259050.1:c.3041+549_3041+555del XM_005259050.1:c.3041+552_3041+555del XM_005259050.1:c.3041+553_3041+555del XM_005259050.1:c.3041+554_3041+555del XM_005259050.1:c.3041+555del XM_005259050.1:c.3041+555dup XM_005259050.1:c.3041+554_3041+555dup XM_005259050.1:c.3041+553_3041+555dup XM_005259050.1:c.3041+552_3041+555dup XM_005259050.1:c.3041+551_3041+555dup XM_005259050.1:c.3041+550_3041+555dup XM_005259050.1:c.3041+549_3041+555dup XM_005259050.1:c.3041+548_3041+555dup XM_005259050.1:c.3041+547_3041+555dup XM_005259050.1:c.3041+546_3041+555dup XM_005259050.1:c.3041+545_3041+555dup XM_005259050.1:c.3041+544_3041+555dup XM_005259050.1:c.3041+540_3041+555dup XM_005259050.1:c.3041+539_3041+555dup
NLRP2 transcript variant X2 XM_005277121.1:c.3041+539= XM_005277121.1:c.3041+545_3041+555del XM_005277121.1:c.3041+547_3041+555del XM_005277121.1:c.3041+549_3041+555del XM_005277121.1:c.3041+552_3041+555del XM_005277121.1:c.3041+553_3041+555del XM_005277121.1:c.3041+554_3041+555del XM_005277121.1:c.3041+555del XM_005277121.1:c.3041+555dup XM_005277121.1:c.3041+554_3041+555dup XM_005277121.1:c.3041+553_3041+555dup XM_005277121.1:c.3041+552_3041+555dup XM_005277121.1:c.3041+551_3041+555dup XM_005277121.1:c.3041+550_3041+555dup XM_005277121.1:c.3041+549_3041+555dup XM_005277121.1:c.3041+548_3041+555dup XM_005277121.1:c.3041+547_3041+555dup XM_005277121.1:c.3041+546_3041+555dup XM_005277121.1:c.3041+545_3041+555dup XM_005277121.1:c.3041+544_3041+555dup XM_005277121.1:c.3041+540_3041+555dup XM_005277121.1:c.3041+539_3041+555dup
NLRP2 transcript variant X9 XM_005278284.1:c.3041+539= XM_005278284.1:c.3041+545_3041+555del XM_005278284.1:c.3041+547_3041+555del XM_005278284.1:c.3041+549_3041+555del XM_005278284.1:c.3041+552_3041+555del XM_005278284.1:c.3041+553_3041+555del XM_005278284.1:c.3041+554_3041+555del XM_005278284.1:c.3041+555del XM_005278284.1:c.3041+555dup XM_005278284.1:c.3041+554_3041+555dup XM_005278284.1:c.3041+553_3041+555dup XM_005278284.1:c.3041+552_3041+555dup XM_005278284.1:c.3041+551_3041+555dup XM_005278284.1:c.3041+550_3041+555dup XM_005278284.1:c.3041+549_3041+555dup XM_005278284.1:c.3041+548_3041+555dup XM_005278284.1:c.3041+547_3041+555dup XM_005278284.1:c.3041+546_3041+555dup XM_005278284.1:c.3041+545_3041+555dup XM_005278284.1:c.3041+544_3041+555dup XM_005278284.1:c.3041+540_3041+555dup XM_005278284.1:c.3041+539_3041+555dup
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#.

54 SubSNP, 31 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCMHGSC_JDW ss103619100 Mar 15, 2016 (147)
2 PJP ss294967980 Oct 12, 2018 (152)
3 SSMP ss664454184 Apr 01, 2015 (144)
4 SWEGEN ss3017691229 Nov 08, 2017 (151)
5 EVA_DECODE ss3703020064 Jul 13, 2019 (153)
6 EVA_DECODE ss3703020065 Jul 13, 2019 (153)
7 EVA_DECODE ss3703020066 Jul 13, 2019 (153)
8 EVA_DECODE ss3703020067 Jul 13, 2019 (153)
9 EVA_DECODE ss3703020068 Jul 13, 2019 (153)
10 PACBIO ss3788567992 Jul 13, 2019 (153)
11 PACBIO ss3793472460 Jul 13, 2019 (153)
12 PACBIO ss3793472461 Jul 13, 2019 (153)
13 PACBIO ss3798359543 Jul 13, 2019 (153)
14 PACBIO ss3798359544 Jul 13, 2019 (153)
15 EVA ss3835528711 Apr 27, 2020 (154)
16 GNOMAD ss4333312585 Apr 27, 2021 (155)
17 GNOMAD ss4333312586 Apr 27, 2021 (155)
18 GNOMAD ss4333312587 Apr 27, 2021 (155)
19 GNOMAD ss4333312589 Apr 27, 2021 (155)
20 GNOMAD ss4333312590 Apr 27, 2021 (155)
21 GNOMAD ss4333312591 Apr 27, 2021 (155)
22 GNOMAD ss4333312592 Apr 27, 2021 (155)
23 GNOMAD ss4333312593 Apr 27, 2021 (155)
24 GNOMAD ss4333312594 Apr 27, 2021 (155)
25 GNOMAD ss4333312595 Apr 27, 2021 (155)
26 GNOMAD ss4333312596 Apr 27, 2021 (155)
27 GNOMAD ss4333312597 Apr 27, 2021 (155)
28 GNOMAD ss4333312598 Apr 27, 2021 (155)
29 GNOMAD ss4333312599 Apr 27, 2021 (155)
30 GNOMAD ss4333312601 Apr 27, 2021 (155)
31 GNOMAD ss4333312602 Apr 27, 2021 (155)
32 GNOMAD ss4333312603 Apr 27, 2021 (155)
33 GNOMAD ss4333312604 Apr 27, 2021 (155)
34 GNOMAD ss4333312605 Apr 27, 2021 (155)
35 TOMMO_GENOMICS ss5228359425 Apr 27, 2021 (155)
36 TOMMO_GENOMICS ss5228359426 Apr 27, 2021 (155)
37 TOMMO_GENOMICS ss5228359427 Apr 27, 2021 (155)
38 TOMMO_GENOMICS ss5228359428 Apr 27, 2021 (155)
39 TOMMO_GENOMICS ss5228359429 Apr 27, 2021 (155)
40 TOMMO_GENOMICS ss5228359430 Apr 27, 2021 (155)
41 1000G_HIGH_COVERAGE ss5307710636 Oct 16, 2022 (156)
42 HUGCELL_USP ss5500151946 Oct 16, 2022 (156)
43 HUGCELL_USP ss5500151947 Oct 16, 2022 (156)
44 HUGCELL_USP ss5500151948 Oct 16, 2022 (156)
45 HUGCELL_USP ss5500151949 Oct 16, 2022 (156)
46 HUGCELL_USP ss5500151951 Oct 16, 2022 (156)
47 TOMMO_GENOMICS ss5787200519 Oct 16, 2022 (156)
48 TOMMO_GENOMICS ss5787200520 Oct 16, 2022 (156)
49 TOMMO_GENOMICS ss5787200521 Oct 16, 2022 (156)
50 TOMMO_GENOMICS ss5787200523 Oct 16, 2022 (156)
51 TOMMO_GENOMICS ss5787200524 Oct 16, 2022 (156)
52 EVA ss5840726931 Oct 16, 2022 (156)
53 EVA ss5840726932 Oct 16, 2022 (156)
54 EVA ss5852339711 Oct 16, 2022 (156)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543521238 (NC_000019.10:54998025::T 628/116776)
Row 543521239 (NC_000019.10:54998025::TT 683/116782)
Row 543521240 (NC_000019.10:54998025::TTT 27763/116450)...

- Apr 27, 2021 (155)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 86328732 (NC_000019.9:55509393::TTT 2701/16534)
Row 86328733 (NC_000019.9:55509393::TTTT 142/16534)
Row 86328734 (NC_000019.9:55509393:T: 358/16534)...

- Apr 27, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 86328732 (NC_000019.9:55509393::TTT 2701/16534)
Row 86328733 (NC_000019.9:55509393::TTTT 142/16534)
Row 86328734 (NC_000019.9:55509393:T: 358/16534)...

- Apr 27, 2021 (155)
76 8.3KJPN

Submission ignored due to conflicting rows:
Row 86328732 (NC_000019.9:55509393::TTT 2701/16534)
Row 86328733 (NC_000019.9:55509393::TTTT 142/16534)
Row 86328734 (NC_000019.9:55509393:T: 358/16534)...

- Apr 27, 2021 (155)
77 8.3KJPN

Submission ignored due to conflicting rows:
Row 86328732 (NC_000019.9:55509393::TTT 2701/16534)
Row 86328733 (NC_000019.9:55509393::TTTT 142/16534)
Row 86328734 (NC_000019.9:55509393:T: 358/16534)...

- Apr 27, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 86328732 (NC_000019.9:55509393::TTT 2701/16534)
Row 86328733 (NC_000019.9:55509393::TTTT 142/16534)
Row 86328734 (NC_000019.9:55509393:T: 358/16534)...

- Apr 27, 2021 (155)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 86328732 (NC_000019.9:55509393::TTT 2701/16534)
Row 86328733 (NC_000019.9:55509393::TTTT 142/16534)
Row 86328734 (NC_000019.9:55509393:T: 358/16534)...

- Apr 27, 2021 (155)
80 14KJPN

Submission ignored due to conflicting rows:
Row 121037623 (NC_000019.10:54998025::TTT 4016/25780)
Row 121037624 (NC_000019.10:54998025:T: 519/25780)
Row 121037625 (NC_000019.10:54998025::TTTT 200/25780)...

- Oct 16, 2022 (156)
81 14KJPN

Submission ignored due to conflicting rows:
Row 121037623 (NC_000019.10:54998025::TTT 4016/25780)
Row 121037624 (NC_000019.10:54998025:T: 519/25780)
Row 121037625 (NC_000019.10:54998025::TTTT 200/25780)...

- Oct 16, 2022 (156)
82 14KJPN

Submission ignored due to conflicting rows:
Row 121037623 (NC_000019.10:54998025::TTT 4016/25780)
Row 121037624 (NC_000019.10:54998025:T: 519/25780)
Row 121037625 (NC_000019.10:54998025::TTTT 200/25780)...

- Oct 16, 2022 (156)
83 14KJPN

Submission ignored due to conflicting rows:
Row 121037623 (NC_000019.10:54998025::TTT 4016/25780)
Row 121037624 (NC_000019.10:54998025:T: 519/25780)
Row 121037625 (NC_000019.10:54998025::TTTT 200/25780)...

- Oct 16, 2022 (156)
84 14KJPN

Submission ignored due to conflicting rows:
Row 121037623 (NC_000019.10:54998025::TTT 4016/25780)
Row 121037624 (NC_000019.10:54998025:T: 519/25780)
Row 121037625 (NC_000019.10:54998025::TTTT 200/25780)...

- Oct 16, 2022 (156)
85 ALFA NC_000019.10 - 54998026 Apr 27, 2021 (155)
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
ss4333312605 NC_000019.10:54998025:TTTTTTTTTTT: NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTT

(self)
ss4333312604 NC_000019.10:54998025:TTTTTTTTT: NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4333312603 NC_000019.10:54998025:TTT: NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4333312602 NC_000019.10:54998025:TT: NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss3017691229, ss3835528711, ss5228359427 NC_000019.9:55509393:T: NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3703020064, ss4333312601, ss5307710636, ss5500151946, ss5787200520, ss5852339711 NC_000019.10:54998025:T: NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss103619100 NT_011109.16:27777626:T: NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss5228359428 NC_000019.9:55509393::T NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4333312585, ss5500151949, ss5787200523 NC_000019.10:54998025::T NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3703020065 NC_000019.10:54998026::T NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3793472460, ss3798359543, ss5228359429 NC_000019.9:55509393::TT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4333312586, ss5500151951, ss5787200524 NC_000019.10:54998025::TT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3703020066 NC_000019.10:54998026::TT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss103619100 NT_011109.16:27777626:T:TTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss294967980 NC_000019.8:60201206::TTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss664454184, ss3788567992, ss3793472461, ss3798359544, ss5228359425, ss5840726931 NC_000019.9:55509393::TTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4333312587, ss5500151947, ss5787200519 NC_000019.10:54998025::TTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3703020067 NC_000019.10:54998026::TTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss5228359426, ss5840726932 NC_000019.9:55509393::TTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312589, ss5500151948, ss5787200521 NC_000019.10:54998025::TTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss3703020068 NC_000019.10:54998026::TTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312590 NC_000019.10:54998025::TTTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312591 NC_000019.10:54998025::TTTTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5228359430 NC_000019.9:55509393::TTTTTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312592 NC_000019.10:54998025::TTTTTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
4740048228 NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312593 NC_000019.10:54998025::TTTTTTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312594 NC_000019.10:54998025::TTTTTTTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312595 NC_000019.10:54998025::TTTTTTTTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312596 NC_000019.10:54998025::TTTTTTTTTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312597 NC_000019.10:54998025::TTTTTTTTTTTT NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312598 NC_000019.10:54998025::TTTTTTTTTTT…

NC_000019.10:54998025::TTTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333312599 NC_000019.10:54998025::TTTTTTTTTTT…

NC_000019.10:54998025::TTTTTTTTTTTTTTTTT

NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3296443979 NC_000019.10:54998025:TTTT: NC_000019.10:54998025:TTTTTTTTTTTT…

NC_000019.10:54998025:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

Help

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

No publications for rs757893808

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.post820+afb47a3d