Assay Details
Target Gene Details
Entrez Gene ID: | 55655 |
Gene Name: | NLR family pyrin domain containing 2 |
Gene Aliases: |
CLR19.9, NALP2, NBS1, PAN1, PYPAF2 |
Location: |
Chr.19:54965284-55001142 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NLRP2 | NM_001174081.1 | 6 | 1106 | NP_001167552.1 |
NM_001174082.1 | 5 | 1071 | NP_001167553.1 | |
NM_001174083.1 | 7 | 1068 | NP_001167554.1 | |
NM_017852.3 | 6 | 1137 | NP_060322.1 | |
AB209300.1 | 5 | 989 | BAD92537.1 | |
AF298547.1 | 5 | 988 | AAG15253.1 | |
AF310106.1 | 6 | 1082 | AAG30289.1 | |
AF464764.1 | 6 | 1037 | AAL69962.1 | |
AK000517.1 | 6 | 1082 | BAA91223.1 | |
AK025952.1 | 6 | 1046 | BAB15293.1 | |
AK223253.1 | 6 | 1046 | BAD96973.1 | |
AK223269.1 | 6 | 1046 | BAD96989.1 | |
AK292681.1 | 6 | 1065 | ||
AK302989.1 | 7 | 1037 | ||
BC001039.2 | 5 | 1017 | AAH01039.1 | |
BC003592.1 | 6 | 1061 | AAH03592.1 | |
BC039269.1 | 6 | 1106 | AAH39269.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3644827 | Chr.19:54976334 - 55017364 on Build GRCh38 | Loss | GP6 NLRP2 |
esv2667609 | Chr.19:54472514 - 55094226 on Build GRCh38 | Deletion | LOC102724300 KIR3DX1 GP6 NLRP7 KIR2DS4 NCR1 LAIR2 LOC101928804 LILRA2 NLRP2 LILRB4 LILRA1 PPP1R12C FCAR KIR2DL4 LILRB1 KIR2DL1 CDC42EP5 KIR3DL1 LILRP2 RDH13 EPS8L1 KIR2DL3 KIR3DL2 MIR8061 KIR3DL3 |
dgv3679n100 | Chr.19:54944244 - 55017462 on Build GRCh38 | Loss | GP6 NLRP7 NLRP2 |
nsv580341 | Chr.19:54973805 - 55048372 on Build GRCh38 | Loss | GP6 RDH13 NLRP2 |
nsv1062047 | Chr.19:54921092 - 55041328 on Build GRCh38 | Gain | GP6 NLRP7 NCR1 RDH13 NLRP2 |
esv3583572 | Chr.19:54937457 - 54998307 on Build GRCh38 | Loss | NLRP7 NCR1 NLRP2 |
esv2659880 | Chr.19:54976502 - 55017273 on Build GRCh38 | Deletion | GP6 NLRP2 |
nsv833880 | Chr.19:54889952 - 55067343 on Build GRCh38 | Loss | GP6 NLRP7 NCR1 RDH13 FCAR NLRP2 |
esv2718872 | Chr.19:54472594 - 55094247 on Build GRCh38 | Deletion | LOC102724300 KIR3DX1 GP6 NLRP7 KIR2DS4 NCR1 LAIR2 LOC101928804 LILRA2 NLRP2 LILRB4 LILRA1 PPP1R12C FCAR KIR2DL4 LILRB1 KIR2DL1 CDC42EP5 KIR3DL1 LILRP2 RDH13 EPS8L1 KIR2DL3 KIR3DL2 MIR8061 KIR3DL3 |
esv3893250 | Chr.19:54906374 - 55000768 on Build GRCh38 | Loss | NLRP7 NCR1 NLRP2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |