ITGA2 (integrin subunit alpha 2) - Rat Genome Database

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Gene: ITGA2 (integrin subunit alpha 2) Homo sapiens
Analyze
Symbol: ITGA2
Name: integrin subunit alpha 2
RGD ID: 1348738
HGNC Page HGNC
Description: Exhibits collagen binding activity involved in cell-matrix adhesion and collagen receptor activity. Involved in several processes, including cell adhesion mediated by integrin; cell surface receptor signaling pathway; and mesodermal cell differentiation. Localizes to cell surface; focal adhesion; and integrin alpha2-beta1 complex. Implicated in several diseases, including Behcet's disease; artery disease (multiple); blood platelet disease (multiple); diabetes mellitus (multiple); and von Willebrand's disease (multiple). Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha 2 subunit of VLA-2 receptor; BDPLT9; BR; CD49 antigen-like family member B; CD49B; collagen receptor; GPIa; HPA-5; human platelet alloantigen system 5; integrin alpha 2; integrin alpha-2; integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor); platelet antigen Br; platelet glycoprotein GPIa; platelet glycoprotein Ia; platelet membrane glycoprotein Ia; very late activation protein 2 receptor, alpha-2 subunit; VLA-2; VLA-2 subunit alpha; VLA2 receptor, alpha-2 subunit; VLAA2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl552,989,340 - 53,094,779 (+)EnsemblGRCh38hg38GRCh38
GRCh38552,989,352 - 53,094,779 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37552,285,182 - 52,390,609 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36552,320,913 - 52,426,366 (+)NCBINCBI36hg18NCBI36
Build 34552,321,013 - 52,423,947NCBI
Celera549,238,739 - 49,344,187 (+)NCBI
Cytogenetic Map5q11.2NCBI
HuRef549,257,212 - 49,362,658 (+)NCBIHuRef
CHM1_1552,287,738 - 52,393,158 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-schisandrin B  (ISO)
(D-Ala(2)-mephe(4)-gly-ol(5))enkephalin  (ISO)
(R)-adrenaline  (EXP)
(R)-mevalonic acid  (EXP,ISO)
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-chloro-7-iodoquinolin-8-ol  (EXP)
8-Br-cAMP  (EXP)
acetylsalicylic acid  (EXP)
ADP  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aripiprazole  (EXP)
aristolochic acid  (EXP)
arsenous acid  (EXP)
atorvastatin calcium  (EXP,ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[k]fluoranthene  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
Calcimycin  (EXP)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (EXP)
clopidogrel  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
diclofenac  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enalapril  (ISO)
Enterolactone  (EXP)
ethanol  (ISO)
genistein  (EXP,ISO)
geranylgeraniol  (EXP,ISO)
glyphosate  (EXP)
histamine  (ISO)
Indeno[1,2,3-cd]pyrene  (EXP)
irinotecan  (EXP)
leflunomide  (EXP)
medroxyprogesterone acetate  (EXP)
methylisothiazolinone  (EXP)
morusin  (EXP)
N-acetyl-L-cysteine  (EXP)
N-Nitrosopyrrolidine  (EXP)
O-methyleugenol  (EXP)
ozone  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP)
paricalcitol  (ISO)
PD 0325901  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenytoin  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
potassium dichromate  (ISO)
pravastatin  (EXP,ISO)
progesterone  (EXP)
prostaglandin E2  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 203580  (EXP)
SB 431542  (EXP)
serotonin  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sulforaphane  (EXP)
sulindac  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetraphene  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (TAS)
blood coagulation  (TAS)
cell adhesion  (IEA,TAS)
cell adhesion mediated by integrin  (IMP)
cell population proliferation  (IEA,ISO)
cell-matrix adhesion  (IMP)
cell-substrate adhesion  (IMP)
cellular response to estradiol stimulus  (IEA,ISO)
cellular response to mechanical stimulus  (IEA,ISO)
cellular response to organic cyclic compound  (ISO)
collagen-activated signaling pathway  (IMP)
detection of mechanical stimulus involved in sensory perception of pain  (IEA,ISO)
establishment of protein localization  (IEA,ISO)
extracellular matrix organization  (TAS)
female pregnancy  (IEA,ISO)
focal adhesion assembly  (IEA,ISO)
hepatocyte differentiation  (IEA,ISO)
hypotonic response  (IEA,ISO)
integrin-mediated signaling pathway  (IEA,IMP)
mammary gland development  (IEA,ISO)
mesodermal cell differentiation  (IEP)
positive regulation of alkaline phosphatase activity  (IEA,ISO)
positive regulation of cell adhesion  (IEA,ISO)
positive regulation of cell projection organization  (IEA,ISO)
positive regulation of collagen binding  (IEA,ISO)
positive regulation of collagen biosynthetic process  (IEA,ISO)
positive regulation of DNA binding  (IEA,ISO)
positive regulation of epithelial cell migration  (IEA,ISO)
positive regulation of inflammatory response  (IEA,ISO)
positive regulation of leukocyte migration  (IEA,ISO)
positive regulation of phagocytosis, engulfment  (IEA,ISO)
positive regulation of positive chemotaxis  (IEA,ISO)
positive regulation of smooth muscle cell migration  (IEA,ISO)
positive regulation of smooth muscle cell proliferation  (IEA,ISO)
positive regulation of smooth muscle contraction  (IEA,ISO)
positive regulation of translation  (IEA,ISO)
positive regulation of transmission of nerve impulse  (IEA,ISO)
response to amine  (IEA,ISO)
response to drug  (IEA,ISO)
response to hypoxia  (IEA,ISO)
response to L-ascorbic acid  (IEA,ISO)
response to muscle activity  (IEA,ISO)
response to organic cyclic compound  (ISO)
response to parathyroid hormone  (IEA,ISO)
skin morphogenesis  (IEA,ISO)
substrate-dependent cell migration  (IMP)
viral entry into host cell  (IEA)
wound healing  (ISO)

Cellular Component

References

References - curated
1. Antoniades C, etal., J Am Coll Cardiol. 2006 May 16;47(10):1959-66. Epub 2006 Apr 27.
2. Anvari A, etal., Thromb Res. 2000 May 15;98(4):281-6.
3. Arsene S, etal., Thromb Res. 2011 Sep;128(3):293-5. doi: 10.1016/j.thromres.2011.05.009. Epub 2011 Jun 1.
4. Azmy R, etal., Appl Clin Genet. 2012 Jul 24;5:55-65. doi: 10.2147/TACG.S31979. Print 2012.
5. Ballesteros F, etal., Audiol Neurootol. 2012;17(6):400-8. doi: 10.1159/000341989. Epub 2012 Aug 30.
6. Carlsson LE, etal., Eur J Haematol. 2002 Jun;68(6):341-4.
7. Cathcart HM, etal., Invest Ophthalmol Vis Sci. 2009 May;50(5):2269-75. doi: 10.1167/iovs.08-2874.
8. Cole VJ, etal., J Thromb Haemost. 2003 May;1(5):963-70.
9. D'Andrea G and Margaglione M, Haematologica. 2003 Dec;88(12):1378-82.
10. Dodson PM, etal., Eye (Lond). 2003 Aug;17(6):772-7.
11. Eibl N, etal., Eur J Clin Invest. 2004 Mar;34(3):205-9.
12. GOA_HUMAN data from the GO Consortium
13. Goyal R, etal., Placenta. 2010 Jul;31(7):568-75. Epub 2010 Jun 8.
14. Huang Y, etal., Diabetes. 2008 Sep;57(9):2360-70. Epub 2008 Jun 20.
15. Jin DK, etal., J Am Soc Nephrol. 1996 Dec;7(12):2636-45.
16. Kostidou E, etal., Clin Biochem. 2007 Jun;40(9-10):671-9. Epub 2007 Mar 28.
17. Kunicki TJ, etal., Blood. 2004 Oct 15;104(8):2359-67. Epub 2004 Jun 29.
18. Kunicki TJ, etal., J Thromb Haemost. 2006 Jan;4(1):137-47.
19. Laine O, etal., Thromb Res. 2012 May;129(5):611-5. doi: 10.1016/j.thromres.2011.11.007. Epub 2011 Nov 30.
20. Lan F, etal., J Immunol. 2001 Aug 15;167(4):2087-96.
21. Li H, etal., Mol Vis. 2008 Sep 15;14:1698-704.
22. Lin Y, etal., Reproduction. 2009 Jun;137(6):943-55. Epub 2009 Mar 25.
23. Lu JX, etal., Balkan Med J. 2014 Mar;31(1):55-9. doi: 10.5152/balkanmedj.2013.7993. Epub 2014 Mar 1.
24. Lundberg S, etal., Inflamm Bowel Dis. 2006 Mar;12(3):172-7.
25. Maeno T, etal., Diabetes. 2002 May;51(5):1523-8.
26. OMIM Disease Annotation Pipeline
27. Park S, etal., Yonsei Med J. 2004 Jun 30;45(3):428-34.
28. Pereira J, etal., Thromb Haemost. 2003 Dec;90(6):1135-40.
29. Pipeline to import KEGG annotations from KEGG into RGD
30. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
31. Podciechowski L, etal., Neuro Endocrinol Lett. 2005 Dec;26(6):789-94.
32. Polat G, etal., Haematologia (Budap). 2002;32(2):121-8.
33. Reiner AP, etal., Thromb Haemost. 2003 Jan;89(1):142-8.
34. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. RGD automated import pipeline for gene-chemical interactions
36. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
37. Ridger VC, etal., J Immunol. 2001 Mar 1;166(5):3484-90.
38. Rudack C, etal., Thromb Haemost. 2006 Mar;95(3):454-61.
39. Santoso S, etal., Blood. 1999 Apr 15;93(8):2449-53.
40. Siljander PR, etal., Blood. 2004 Feb 15;103(4):1333-41. Epub 2003 Oct 16.
41. Sperr WR, etal., Thromb Res. 1998 May 1;90(3):117-23.
42. Takada Y, etal., Genome Biol. 2007;8(5):215.
43. Wang W, etal., Reprod Biomed Online. 2009 Jan;18(1):95-103.
44. Weger M, etal., Ophthalmology. 2005 Nov;112(11):1910-5. Epub 2005 Sep 12.
45. Zhao Y, etal., Chin Med Sci J. 2004 Mar;19(1):13-8.
Additional References at PubMed
PMID:1690718   PMID:1693624   PMID:1763388   PMID:2156854   PMID:2545729   PMID:2933589   PMID:3546305   PMID:7503723   PMID:7545357   PMID:7639691   PMID:7861330   PMID:7901236  
PMID:7916494   PMID:7994488   PMID:8276836   PMID:8387021   PMID:8889548   PMID:9198193   PMID:9211352   PMID:9223755   PMID:9281592   PMID:9353312   PMID:9391074   PMID:9402003  
PMID:9461325   PMID:9509387   PMID:9632739   PMID:9645947   PMID:9676575   PMID:9688542   PMID:9731077   PMID:9746778   PMID:9789327   PMID:9812906   PMID:9813091   PMID:10094488  
PMID:10201960   PMID:10339462   PMID:10381815   PMID:10397731   PMID:10465258   PMID:10666376   PMID:10737800   PMID:10741407   PMID:10744142   PMID:10778855   PMID:10918561   PMID:10942362  
PMID:10944199   PMID:11030148   PMID:11169447   PMID:11238113   PMID:11246537   PMID:11307375   PMID:11323022   PMID:11359774   PMID:11359786   PMID:11395045   PMID:11472360   PMID:11518510  
PMID:11555674   PMID:11568114   PMID:11572092   PMID:11698306   PMID:11728949   PMID:11775028   PMID:11776052   PMID:11809527   PMID:11812069   PMID:11835340   PMID:11856343   PMID:11877061  
PMID:11958806   PMID:12038776   PMID:12042322   PMID:12070018   PMID:12071877   PMID:12073410   PMID:12082590   PMID:12082592   PMID:12181354   PMID:12208476   PMID:12372459   PMID:12392763  
PMID:12477932   PMID:12482545   PMID:12486862   PMID:12499711   PMID:12529399   PMID:12544734   PMID:12615788   PMID:12657625   PMID:12681287   PMID:12690916   PMID:12717361   PMID:12724616  
PMID:12788934   PMID:12791669   PMID:12871600   PMID:12915563   PMID:13679375   PMID:14556196   PMID:14671618   PMID:14679206   PMID:14681217   PMID:14701832   PMID:14746139   PMID:15132990  
PMID:15146197   PMID:15147720   PMID:15174051   PMID:15205592   PMID:15240572   PMID:15265786   PMID:15292257   PMID:15304053   PMID:15342556   PMID:15350465   PMID:15355503   PMID:15355504  
PMID:15514009   PMID:15522237   PMID:15546585   PMID:15630502   PMID:15647274   PMID:15699160   PMID:15730528   PMID:15777792   PMID:15847651   PMID:15892865   PMID:15947241   PMID:15978109  
PMID:15978110   PMID:16043429   PMID:16055706   PMID:16113793   PMID:16140647   PMID:16214444   PMID:16263699   PMID:16304451   PMID:16317580   PMID:16341674   PMID:16344560   PMID:16357324  
PMID:16390868   PMID:16421008   PMID:16513317   PMID:16573563   PMID:16622460   PMID:16634766   PMID:16732726   PMID:16754661   PMID:16754960   PMID:16762342   PMID:16820192   PMID:16828471  
PMID:16875034   PMID:16882656   PMID:16905953   PMID:16908762   PMID:16972245   PMID:17003923   PMID:17023078   PMID:17036337   PMID:17070428   PMID:17092301   PMID:17127487   PMID:17157856  
PMID:17160992   PMID:17164499   PMID:17170699   PMID:17179151   PMID:17184645   PMID:17196570   PMID:17264949   PMID:17312461   PMID:17331499   PMID:17346829   PMID:17408410   PMID:17495265  
PMID:17498594   PMID:17534386   PMID:17538005   PMID:17598123   PMID:17630485   PMID:17638891   PMID:17669516   PMID:17728329   PMID:17855352   PMID:17890945   PMID:18026855   PMID:18057877  
PMID:18231737   PMID:18362184   PMID:18413316   PMID:18417478   PMID:18448666   PMID:18491034   PMID:18502778   PMID:18513389   PMID:18523483   PMID:18554474   PMID:18587047   PMID:18608122  
PMID:18613064   PMID:18638089   PMID:18787945   PMID:18820259   PMID:18826391   PMID:18830231   PMID:18836731   PMID:18936436   PMID:18974842   PMID:18983487   PMID:18990704   PMID:19008959  
PMID:19082798   PMID:19110485   PMID:19131662   PMID:19132198   PMID:19202951   PMID:19204726   PMID:19235843   PMID:19263529   PMID:19336370   PMID:19350519   PMID:19388931   PMID:19395705  
PMID:19411307   PMID:19420105   PMID:19422573   PMID:19451223   PMID:19479237   PMID:19500323   PMID:19530321   PMID:19549780   PMID:19559392   PMID:19570064   PMID:19578796   PMID:19581412  
PMID:19587357   PMID:19622836   PMID:19635510   PMID:19700757   PMID:19702628   PMID:19724904   PMID:19729601   PMID:19740098   PMID:19778317   PMID:19789264   PMID:19789387   PMID:19827952  
PMID:19913121   PMID:19927126   PMID:19933311   PMID:19948007   PMID:19995941   PMID:20048261   PMID:20063990   PMID:20076847   PMID:20149160   PMID:20178602   PMID:20201926   PMID:20204402  
PMID:20336352   PMID:20351310   PMID:20436081   PMID:20453000   PMID:20485444   PMID:20492470   PMID:20532885   PMID:20536507   PMID:20563599   PMID:20598296   PMID:20628086   PMID:20667040  
PMID:20691446   PMID:20806289   PMID:20939067   PMID:21034162   PMID:21126803   PMID:21134100   PMID:21135504   PMID:21193198   PMID:21262375   PMID:21310825   PMID:21370991   PMID:21423176  
PMID:21474814   PMID:21508388   PMID:21558389   PMID:21596751   PMID:21645227   PMID:21647271   PMID:21652699   PMID:21658756   PMID:21672359   PMID:21734795   PMID:21743959   PMID:21765051  
PMID:21787362   PMID:21796158   PMID:21850018   PMID:21947080   PMID:22015659   PMID:22049795   PMID:22133774   PMID:22160595   PMID:22298882   PMID:22304920   PMID:22354032   PMID:22418441  
PMID:22457358   PMID:22590584   PMID:22634764   PMID:22939629   PMID:23070086   PMID:23116973   PMID:23132859   PMID:23154389   PMID:23161041   PMID:23204528   PMID:23242739   PMID:23249684  
PMID:23284937   PMID:23368983   PMID:23382103   PMID:23418787   PMID:23469002   PMID:23638215   PMID:23658023   PMID:23922814   PMID:23951036   PMID:24244022   PMID:24289209   PMID:24397542  
PMID:24466284   PMID:24501414   PMID:24581850   PMID:24595049   PMID:24616281   PMID:24823363   PMID:24837519   PMID:24850451   PMID:24880062   PMID:24927181   PMID:24958723   PMID:24959655  
PMID:24979111   PMID:25046655   PMID:25137483   PMID:25200184   PMID:25203434   PMID:25336636   PMID:25549357   PMID:25643034   PMID:25658015   PMID:25808196   PMID:25966234   PMID:26051322  
PMID:26134877   PMID:26152212   PMID:26186194   PMID:26258411   PMID:26304618   PMID:26408663   PMID:26496610   PMID:26514956   PMID:26556301   PMID:26618866   PMID:26700675   PMID:26758421  
PMID:26779610   PMID:26850110   PMID:26927558   PMID:27009236   PMID:27011248   PMID:27019315   PMID:27221710   PMID:27337956   PMID:27405521   PMID:27881421   PMID:28004990   PMID:28119367  
PMID:28358707   PMID:28388872   PMID:28514442   PMID:28669815   PMID:28692057   PMID:28775156   PMID:28948649   PMID:29121049   PMID:29180619   PMID:29208186   PMID:29236307   PMID:29461866  
PMID:29507755   PMID:29540503   PMID:29567387   PMID:29568061   PMID:29761640   PMID:30132837   PMID:30515639   PMID:30545930   PMID:30639242   PMID:30798327   PMID:31056421   PMID:31102273  
PMID:31184100   PMID:31541017   PMID:31641961   PMID:31818309   PMID:31980649   PMID:32202508   PMID:32433445   PMID:32437034  


Genomics

Comparative Map Data
ITGA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl552,989,340 - 53,094,779 (+)EnsemblGRCh38hg38GRCh38
GRCh38552,989,352 - 53,094,779 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37552,285,182 - 52,390,609 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36552,320,913 - 52,426,366 (+)NCBINCBI36hg18NCBI36
Build 34552,321,013 - 52,423,947NCBI
Celera549,238,739 - 49,344,187 (+)NCBI
Cytogenetic Map5q11.2NCBI
HuRef549,257,212 - 49,362,658 (+)NCBIHuRef
CHM1_1552,287,738 - 52,393,158 (+)NCBICHM1_1
Itga2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913114,969,617 - 115,068,636 (-)NCBIGRCm39mm39
GRCm39 Ensembl13114,969,617 - 115,068,636 (-)Ensembl
GRCm3813114,833,081 - 114,932,100 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13114,833,081 - 114,932,100 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713115,626,120 - 115,722,249 (-)NCBIGRCm37mm9NCBIm37
MGSCv3613115,956,790 - 116,052,919 (-)NCBImm8
Celera13119,179,611 - 119,279,864 (-)NCBICelera
Cytogenetic Map13D2.2NCBI
cM Map1364.61NCBI
Itga2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2246,520,345 - 46,621,487 (-)NCBI
Rnor_6.0 Ensembl247,000,323 - 47,096,961 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0246,996,904 - 47,097,011 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0271,536,102 - 71,636,203 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4246,967,681 - 47,080,909 (-)NCBIRGSC3.4rn4RGSC3.4
Celera242,276,508 - 42,376,910 (-)NCBICelera
Cytogenetic Map2q14NCBI
Itga2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544614,309,349 - 14,422,170 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544614,309,516 - 14,421,991 (-)NCBIChiLan1.0ChiLan1.0
ITGA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1562,554,387 - 62,659,641 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl562,555,370 - 62,659,720 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0560,935,452 - 61,040,726 (-)NCBIMhudiblu_PPA_v0panPan3
ITGA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1462,170,137 - 62,268,962 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl462,170,452 - 62,268,983 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha461,941,741 - 62,043,869 (-)NCBI
ROS_Cfam_1.0462,664,801 - 62,766,959 (-)NCBI
UMICH_Zoey_3.1462,440,055 - 62,542,152 (-)NCBI
UNSW_CanFamBas_1.0462,564,620 - 62,666,770 (-)NCBI
UU_Cfam_GSD_1.0463,091,317 - 63,193,515 (-)NCBI
Itga2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213205,383,765 - 205,481,351 (-)NCBI
SpeTri2.0NW_00493648014,320,292 - 14,417,828 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1632,336,292 - 32,437,103 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11632,336,240 - 32,440,311 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21634,164,830 - 34,262,490 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ITGA2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1449,280,289 - 49,382,101 (+)NCBI
ChlSab1.1 Ensembl449,317,648 - 49,380,051 (+)Ensembl
Vero_WHO_p1.0NW_0236660821,745,561 - 1,848,173 (-)NCBI
Itga2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247596,281,698 - 6,376,702 (-)NCBI

Position Markers
D5S623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,285,623 - 52,285,700UniSTSGRCh37
GRCh37552,285,557 - 52,285,703UniSTSGRCh37
GRCh37552,285,603 - 52,285,700UniSTSGRCh37
Build 36552,321,314 - 52,321,460RGDNCBI36
Celera549,239,186 - 49,239,291UniSTS
Celera549,239,140 - 49,239,294RGD
Celera549,239,206 - 49,239,291UniSTS
Cytogenetic Map5q11.2UniSTS
HuRef549,257,659 - 49,257,762UniSTS
HuRef549,257,613 - 49,257,765UniSTS
HuRef549,257,679 - 49,257,762UniSTS
Marshfield Genetic Map560.92RGD
Genethon Genetic Map561.1UniSTS
TNG Radiation Hybrid Map523770.0UniSTS
deCODE Assembly Map568.58UniSTS
Stanford-G3 RH Map51945.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
GeneMap99-G3 RH Map51940.0UniSTS
SGC32937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,388,305 - 52,388,454UniSTSGRCh37
Build 36552,424,062 - 52,424,211RGDNCBI36
Celera549,341,883 - 49,342,032RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,360,354 - 49,360,503UniSTS
TNG Radiation Hybrid Map523728.0UniSTS
GeneMap99-GB4 RH Map5287.5UniSTS
Whitehead-RH Map5182.8UniSTS
SHGC-14947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,336,614 - 52,336,719UniSTSGRCh37
Build 36552,372,371 - 52,372,476RGDNCBI36
Celera549,290,191 - 49,290,296RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,308,661 - 49,308,766UniSTS
TNG Radiation Hybrid Map523750.0UniSTS
Stanford-G3 RH Map51931.0UniSTS
RH75317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,297,362 - 52,297,583UniSTSGRCh37
Build 36552,333,119 - 52,333,340RGDNCBI36
Celera549,250,951 - 49,251,172RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,269,419 - 49,269,640UniSTS
RH66001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,390,202 - 52,390,384UniSTSGRCh37
Build 36552,425,959 - 52,426,141RGDNCBI36
Celera549,343,780 - 49,343,962RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,362,251 - 49,362,433UniSTS
SHGC-142139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,290,423 - 52,290,750UniSTSGRCh37
Build 36552,326,180 - 52,326,507RGDNCBI36
Celera549,244,012 - 49,244,339RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,262,478 - 49,262,805UniSTS
TNG Radiation Hybrid Map523776.0UniSTS
D5S2427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,387,725 - 52,387,829UniSTSGRCh37
Build 36552,423,482 - 52,423,586RGDNCBI36
Celera549,341,303 - 49,341,407RGD
Cytogenetic Map5q11.2UniSTS
HuRef549,359,774 - 49,359,878UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S2773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,285,192 - 52,285,370UniSTSGRCh37
Build 36552,320,949 - 52,321,127RGDNCBI36
Celera549,238,775 - 49,238,953RGD
HuRef549,257,248 - 49,257,426UniSTS
D11S2612  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq13.2-q21.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
D5S623  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2UniSTS
TNG Radiation Hybrid Map523770.0UniSTS
D5S623  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2UniSTS
Marshfield Genetic Map560.92UniSTS
Genethon Genetic Map561.1UniSTS
deCODE Assembly Map568.58UniSTS
Whitehead-YAC Contig Map5 UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR31hsa-miR-31-5pOncomiRDBexternal_infoNANA21875932

Predicted Target Of
Summary Value
Count of predictions:4894
Count of miRNA genes:1213
Interacting mature miRNAs:1557
Transcripts:ENST00000296585, ENST00000503810, ENST00000509814, ENST00000509960, ENST00000510722, ENST00000513685
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 260 14 253 167 63 43 1101 29 245 199 340 704 137 3 611 1
Low 2174 1881 1238 229 618 195 2543 1194 3186 217 962 886 36 1 1148 1489 3 1
Below cutoff 3 1065 231 224 1097 224 713 971 300 3 155 19 2 53 688 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF512556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU126174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE048389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF355124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG288116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG494837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG771368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM828183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM979113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP280760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP381403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA442768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK904145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN272390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA343078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA545055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN377425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN377426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT359366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L24121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296585   ⟹   ENSP00000296585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl552,989,352 - 53,094,779 (+)Ensembl
RefSeq Acc Id: ENST00000503810   ⟹   ENSP00000426489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl552,989,340 - 53,090,834 (+)Ensembl
RefSeq Acc Id: ENST00000509814   ⟹   ENSP00000424397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl552,989,440 - 53,090,653 (+)Ensembl
RefSeq Acc Id: ENST00000509960   ⟹   ENSP00000424642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl552,989,440 - 53,090,657 (+)Ensembl
RefSeq Acc Id: ENST00000510722   ⟹   ENSP00000422145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl552,989,440 - 53,090,657 (+)Ensembl
RefSeq Acc Id: ENST00000513685   ⟹   ENSP00000422095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl552,989,440 - 53,090,646 (+)Ensembl
RefSeq Acc Id: NM_002203   ⟹   NP_002194
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38552,989,352 - 53,094,779 (+)NCBI
GRCh37552,285,156 - 52,390,609 (+)ENTREZGENE
Build 36552,320,913 - 52,426,366 (+)NCBI Archive
HuRef549,257,212 - 49,362,658 (+)ENTREZGENE
CHM1_1552,287,738 - 52,393,158 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073103
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38552,989,352 - 53,094,779 (+)NCBI
GRCh37552,285,156 - 52,390,609 (+)NCBI
HuRef549,257,212 - 49,362,658 (+)NCBI
CHM1_1552,287,738 - 52,393,158 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073104
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38552,989,352 - 53,094,779 (+)NCBI
GRCh37552,285,156 - 52,390,609 (+)NCBI
HuRef549,257,212 - 49,362,658 (+)NCBI
CHM1_1552,287,738 - 52,393,158 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073105
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38552,989,352 - 53,094,779 (+)NCBI
GRCh37552,285,156 - 52,390,609 (+)NCBI
HuRef549,257,212 - 49,362,658 (+)NCBI
CHM1_1552,287,738 - 52,393,158 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073106
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38552,989,352 - 53,094,779 (+)NCBI
GRCh37552,285,156 - 52,390,609 (+)NCBI
HuRef549,257,212 - 49,362,658 (+)NCBI
CHM1_1552,287,738 - 52,393,158 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073107
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38552,989,352 - 53,094,779 (+)NCBI
GRCh37552,285,156 - 52,390,609 (+)NCBI
HuRef549,257,212 - 49,362,658 (+)NCBI
CHM1_1552,287,738 - 52,393,158 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002194   ⟸   NM_002203
- Peptide Label: precursor
- UniProtKB: P17301 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000426489   ⟸   ENST00000503810
RefSeq Acc Id: ENSP00000296585   ⟸   ENST00000296585
RefSeq Acc Id: ENSP00000424642   ⟸   ENST00000509960
RefSeq Acc Id: ENSP00000424397   ⟸   ENST00000509814
RefSeq Acc Id: ENSP00000422145   ⟸   ENST00000510722
RefSeq Acc Id: ENSP00000422095   ⟸   ENST00000513685
Protein Domains
Integrin_alpha2   VWFA

Promoters
RGD ID:6803281
Promoter ID:HG_KWN:50104
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_002203
Position:
Human AssemblyChrPosition (strand)Source
Build 36552,320,636 - 52,321,136 (+)MPROMDB
RGD ID:6849556
Promoter ID:EP47002
Type:single initiation site
Name:HS_ITGA2
Description:alpha-2 integrin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:epithelial cells, fibroblasts
Experiment Methods:Nuclease protection; Sequencing of a full-length cDNA; Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 36552,320,927 - 52,320,987EPD
RGD ID:6869582
Promoter ID:EPDNEW_H7956
Type:initiation region
Name:ITGA2_1
Description:integrin subunit alpha 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7957  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38552,989,353 - 52,989,413EPDNEW
RGD ID:6869584
Promoter ID:EPDNEW_H7957
Type:initiation region
Name:ITGA2_2
Description:integrin subunit alpha 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7956  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38552,989,477 - 52,989,537EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002203.3(ITGA2):c.1943+364C>T single nucleotide variant Lung cancer [RCV000096059] Chr5:53066341 [GRCh38]
Chr5:52362171 [GRCh37]
Chr5:5q11.2
uncertain significance
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1
pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|See cases [RCV000051838] Chr5:50288355..56717370 [GRCh38]
Chr5:49584189..56013197 [GRCh37]
Chr5:49619946..56048954 [NCBI36]
Chr5:5q11.1-11.2
pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 copy number loss See cases [RCV000053451] Chr5:50462100..55862985 [GRCh38]
Chr5:49757934..55158813 [GRCh37]
Chr5:49793691..55194570 [NCBI36]
Chr5:5q11.1-11.2
pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 copy number gain See cases [RCV000138021] Chr5:45566861..56506493 [GRCh38]
Chr5:45566963..55802320 [GRCh37]
Chr5:45602720..55838077 [NCBI36]
Chr5:5p12-q11.2
uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
NM_002203.4(ITGA2):c.759C>T (p.Phe253=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000264523] Chr5:53051539 [GRCh38]
Chr5:52347369 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*1322T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000262655] Chr5:53091921 [GRCh38]
Chr5:52387751 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.825G>A (p.Thr275=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000268212] Chr5:53055583 [GRCh38]
Chr5:52351413 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.-13G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000279267] Chr5:52989456 [GRCh38]
Chr5:52285286 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.2718G>A (p.Ala906=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000280572]|not provided [RCV000956283] Chr5:53075114 [GRCh38]
Chr5:52370944 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.993A>G (p.Ala331=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000281281] Chr5:53056046 [GRCh38]
Chr5:52351876 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*4028A>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000275450] Chr5:53094627 [GRCh38]
Chr5:52390457 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.3379A>C (p.Lys1127Gln) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000271507]|not provided [RCV000961614] Chr5:53089976 [GRCh38]
Chr5:52385806 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*1671G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000268632] Chr5:53092270 [GRCh38]
Chr5:52388100 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.2377G>A (p.Gly793Arg) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000272876] Chr5:53072643 [GRCh38]
Chr5:52368473 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.2099T>C (p.Ile700Thr) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000267357] Chr5:53070124 [GRCh38]
Chr5:52365954 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*35A>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000277395] Chr5:53090634 [GRCh38]
Chr5:52386464 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*3996G>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV000315117] Chr5:53094595 [GRCh38]
Chr5:52390425 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_002203.4(ITGA2):c.2484G>A (p.Thr828=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000333884] Chr5:53073172 [GRCh38]
Chr5:52369002 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.1638C>T (p.Pro546=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000301417]|not provided [RCV000980030] Chr5:53064947 [GRCh38]
Chr5:52360777 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.849C>T (p.Asp283=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000316451] Chr5:53055607 [GRCh38]
Chr5:52351437 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*1641C>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000354027] Chr5:53092240 [GRCh38]
Chr5:52388070 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.2483C>T (p.Thr828Met) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000269427] Chr5:53073171 [GRCh38]
Chr5:52369001 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*3414A>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000286047] Chr5:53094013 [GRCh38]
Chr5:52389843 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_002203.4(ITGA2):c.2241C>T (p.Pro747=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000303731]|not provided [RCV000904121] Chr5:53071943 [GRCh38]
Chr5:52367773 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.*1749T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000323656] Chr5:53092348 [GRCh38]
Chr5:52388178 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.3252C>T (p.Phe1084=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000302029] Chr5:53083447 [GRCh38]
Chr5:52379277 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.2780A>G (p.Asn927Ser) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000335586]|not provided [RCV000887931] Chr5:53075259 [GRCh38]
Chr5:52371089 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.11A>G (p.Glu4Gly) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000337125] Chr5:52989479 [GRCh38]
Chr5:52285309 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.1602+3A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000401675] Chr5:53062932 [GRCh38]
Chr5:52358762 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.3021T>G (p.Thr1007=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000305172] Chr5:53080603 [GRCh38]
Chr5:52376433 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.955G>A (p.Ala319Thr) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000373389]|not provided [RCV000950679] Chr5:53056008 [GRCh38]
Chr5:52351838 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*3409A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000373667] Chr5:53094008 [GRCh38]
Chr5:52389838 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*208G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000318640] Chr5:53090807 [GRCh38]
Chr5:52386637 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.1789C>T (p.Arg597Cys) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000337750] Chr5:53065098 [GRCh38]
Chr5:52360928 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_002203.4(ITGA2):c.*4042G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000357250] Chr5:53094641 [GRCh38]
Chr5:52390471 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.2376C>T (p.Asp792=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000358207] Chr5:53072642 [GRCh38]
Chr5:52368472 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*2151A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000402381] Chr5:53092750 [GRCh38]
Chr5:52388580 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.2678T>C (p.Ile893Thr) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000375221]|not provided [RCV000898108] Chr5:53075074 [GRCh38]
Chr5:52370904 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*1947T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000289317] Chr5:53092546 [GRCh38]
Chr5:52388376 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2723G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000338269] Chr5:53093322 [GRCh38]
Chr5:52389152 [GRCh37]
Chr5:5q11.2
benign|uncertain significance
NM_002203.4(ITGA2):c.2429A>G (p.Gln810Arg) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000327832] Chr5:53072695 [GRCh38]
Chr5:52368525 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*3599_*3600insTATATAAACAACTTTGTAGGACTAT insertion Platelet-type bleeding disorder 9 [RCV000377188] Chr5:53094196..53094197 [GRCh38]
Chr5:52390026..52390027 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2521A>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000320360] Chr5:53093120 [GRCh38]
Chr5:52388950 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.789T>C (p.Ala263=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000360617] Chr5:53055547 [GRCh38]
Chr5:52351377 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.2434C>A (p.Gln812Lys) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000382459] Chr5:53073122 [GRCh38]
Chr5:52368952 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_002203.4(ITGA2):c.*1921G>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV000383700] Chr5:53092520 [GRCh38]
Chr5:52388350 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.1189G>A (p.Gly397Ser) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000289940] Chr5:53059889 [GRCh38]
Chr5:52355719 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_002203.4(ITGA2):c.780-11A>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV000322047] Chr5:53055527 [GRCh38]
Chr5:52351357 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.3154A>T (p.Thr1052Ser) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000407606]|not provided [RCV000898545] Chr5:53083349 [GRCh38]
Chr5:52379179 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.1807-6T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000407562]|not provided [RCV000949913] Chr5:53065835 [GRCh38]
Chr5:52361665 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.1594A>C (p.Ile532Leu) single nucleotide variant Fetal and neonatal alloimmune thrombocytopenia [RCV001258314]|Platelet-type bleeding disorder 9 [RCV000380765] Chr5:53062921 [GRCh38]
Chr5:52358751 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.185+10T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000401294] Chr5:53026878 [GRCh38]
Chr5:52322708 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3889A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000306856] Chr5:53094488 [GRCh38]
Chr5:52390318 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*29G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000362413] Chr5:53090628 [GRCh38]
Chr5:52386458 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.630+10A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000362482] Chr5:53048780 [GRCh38]
Chr5:52344610 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.1108G>A (p.Gly370Arg) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000386245] Chr5:53058036 [GRCh38]
Chr5:52353866 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3310T>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000386551] Chr5:53093909 [GRCh38]
Chr5:52389739 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*2716C>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000292601] Chr5:53093315 [GRCh38]
Chr5:52389145 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.227G>A (p.Arg76Gln) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000292703]|not provided [RCV000958088] Chr5:53042153 [GRCh38]
Chr5:52337983 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.3518T>C (p.Ile1173Thr) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000307975] Chr5:53090571 [GRCh38]
Chr5:52386401 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.3(ITGA2):c.-124G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000323846] Chr5:52989345 [GRCh38]
Chr5:52285175 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*462A>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000324583] Chr5:53091061 [GRCh38]
Chr5:52386891 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.2568G>A (p.Leu856=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000294171] Chr5:53073256 [GRCh38]
Chr5:52369086 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*3028G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000308867] Chr5:53093627 [GRCh38]
Chr5:52389457 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.1312+12T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000344873] Chr5:53060024 [GRCh38]
Chr5:52355854 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.2503A>G (p.Ser835Gly) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000388488] Chr5:53073191 [GRCh38]
Chr5:52369021 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_002203.4(ITGA2):c.*3358G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000261663] Chr5:53093957 [GRCh38]
Chr5:52389787 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_002203.4(ITGA2):c.636G>T (p.Gly212=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000309269] Chr5:53051416 [GRCh38]
Chr5:52347246 [GRCh37]
Chr5:5q11.2
benign|uncertain significance
NM_002203.4(ITGA2):c.*2075A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000295289] Chr5:53092674 [GRCh38]
Chr5:52388504 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.517A>G (p.Ile173Val) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000391672] Chr5:53048657 [GRCh38]
Chr5:52344487 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.633G>A (p.Val211=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000391667] Chr5:53051413 [GRCh38]
Chr5:52347243 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*2883_*2893dup duplication Platelet-type bleeding disorder 9 [RCV000279805] Chr5:53093481..53093482 [GRCh38]
Chr5:52389311..52389312 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.1600G>A (p.Glu534Lys) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000295674] Chr5:53062927 [GRCh38]
Chr5:52358757 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*1199C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV000310987] Chr5:53091798 [GRCh38]
Chr5:52387628 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*1825T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000329069] Chr5:53092424 [GRCh38]
Chr5:52388254 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.2674A>C (p.Thr892Pro) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000348555]|not provided [RCV000961613] Chr5:53075070 [GRCh38]
Chr5:52370900 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*613C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV000390384] Chr5:53091212 [GRCh38]
Chr5:52387042 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_002203.4(ITGA2):c.327G>A (p.Met109Ile) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000349935]|not provided [RCV000953506] Chr5:53045032 [GRCh38]
Chr5:52340862 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*2198T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000299450] Chr5:53092797 [GRCh38]
Chr5:52388627 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*1356C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV000317851] Chr5:53091955 [GRCh38]
Chr5:52387785 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3048G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000365836] Chr5:53093647 [GRCh38]
Chr5:52389477 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.3324T>C (p.Tyr1108=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000366041] Chr5:53087017 [GRCh38]
Chr5:52382847 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.756A>C (p.Thr252=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000366240]|not provided [RCV000958539] Chr5:53051536 [GRCh38]
Chr5:52347366 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.1958C>A (p.Ala653Asp) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000297737] Chr5:53067132 [GRCh38]
Chr5:52362962 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3599_*3600insTTATAAACAACTTTGTAGGACTAT insertion Platelet-type bleeding disorder 9 [RCV000285078] Chr5:53094196..53094197 [GRCh38]
Chr5:52390026..52390027 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*95dup duplication Platelet-type bleeding disorder 9 [RCV000263412] Chr5:53090686..53090687 [GRCh38]
Chr5:52386516..52386517 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.*3237A>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000276893] Chr5:53093836 [GRCh38]
Chr5:52389666 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2608A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000277171] Chr5:53093207 [GRCh38]
Chr5:52389037 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*430G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000278715] Chr5:53091029 [GRCh38]
Chr5:52386859 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3113G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000268904] Chr5:53093712 [GRCh38]
Chr5:52389542 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*859T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000314509] Chr5:53091458 [GRCh38]
Chr5:52387288 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.614G>T (p.Gly205Val) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000314751] Chr5:53048754 [GRCh38]
Chr5:52344584 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3308_*3310del deletion Platelet-type bleeding disorder 9 [RCV000329592] Chr5:53093905..53093907 [GRCh38]
Chr5:52389735..52389737 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.2069A>G (p.Gln690Arg) single nucleotide variant Platelet-type bleeding disorder 9 [RCV000361882] Chr5:53067243 [GRCh38]
Chr5:52363073 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.2826-12A>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV000398950] Chr5:53078760 [GRCh38]
Chr5:52374590 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*850_*854del deletion Platelet-type bleeding disorder 9 [RCV000399271] Chr5:53091445..53091449 [GRCh38]
Chr5:52387275..52387279 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3164G>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000305044]|Platelet-type bleeding disorder 9 [RCV000369301] Chr5:53093763 [GRCh38]
Chr5:52389593 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*3918G>C single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000309804]|Platelet-type bleeding disorder 9 [RCV000345341] Chr5:53094517 [GRCh38]
Chr5:52390347 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*3820T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000400644] Chr5:53094419 [GRCh38]
Chr5:52390249 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3385_*3386insGAAA insertion Combined molybdoflavoprotein enzyme deficiency [RCV000359678]|Platelet-type bleeding disorder 9 [RCV000316630] Chr5:53093981..53093982 [GRCh38]
Chr5:52389811..52389812 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*4098C>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000325010]|Platelet-type bleeding disorder 9 [RCV000317047] Chr5:53094697 [GRCh38]
Chr5:52390527 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*2039_*2041del deletion Platelet-type bleeding disorder 9 [RCV000401880] Chr5:53092625..53092627 [GRCh38]
Chr5:52388455..52388457 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2429C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV000305267] Chr5:53093028 [GRCh38]
Chr5:52388858 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*60G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000332392] Chr5:53090659 [GRCh38]
Chr5:52386489 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2653T>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000332513] Chr5:53093252 [GRCh38]
Chr5:52389082 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2529_*2532del deletion Platelet-type bleeding disorder 9 [RCV000365646] Chr5:53093125..53093128 [GRCh38]
Chr5:52388955..52388958 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*1252G>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000326815]|Platelet-type bleeding disorder 9 [RCV000357473] Chr5:53091851 [GRCh38]
Chr5:52387681 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*2574C>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000338791]|Platelet-type bleeding disorder 9 [RCV000381194] Chr5:53093173 [GRCh38]
Chr5:52389003 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*2999A>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000353775]|Platelet-type bleeding disorder 9 [RCV000340853] Chr5:53093598 [GRCh38]
Chr5:52389428 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*1818_*1819insTTGGC insertion Platelet-type bleeding disorder 9 [RCV000283776] Chr5:53092416..53092417 [GRCh38]
Chr5:52388246..52388247 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.*2921G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000334984] Chr5:53093520 [GRCh38]
Chr5:52389350 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2089G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000350249] Chr5:53092688 [GRCh38]
Chr5:52388518 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*4006_*4010del deletion Platelet-type bleeding disorder 9 [RCV000367484] Chr5:53094601..53094605 [GRCh38]
Chr5:52390431..52390435 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.*760_*761insTTAT insertion Combined molybdoflavoprotein enzyme deficiency [RCV000384979]|Platelet-type bleeding disorder 9 [RCV000344956] Chr5:53091357..53091358 [GRCh38]
Chr5:52387187..52387188 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*483del deletion Platelet-type bleeding disorder 9 [RCV000284734] Chr5:53091079 [GRCh38]
Chr5:52386909 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.1096+11dup duplication Platelet-type bleeding disorder 9 [RCV000320005] Chr5:53056159..53056160 [GRCh38]
Chr5:52351989..52351990 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.1602+15dup duplication Platelet-type bleeding disorder 9 [RCV000350631] Chr5:53062931..53062932 [GRCh38]
Chr5:52358761..52358762 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*60G>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV000386879] Chr5:53090659 [GRCh38]
Chr5:52386489 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2674G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000386977] Chr5:53093273 [GRCh38]
Chr5:52389103 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3164del deletion Platelet-type bleeding disorder 9 [RCV000307586] Chr5:53093762 [GRCh38]
Chr5:52389592 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2392G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000407113] Chr5:53092991 [GRCh38]
Chr5:52388821 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*4045_*4047AGT[1] microsatellite Combined molybdoflavoprotein enzyme deficiency [RCV000269902]|Platelet-type bleeding disorder 9 [RCV000259422] Chr5:53094643..53094645 [GRCh38]
Chr5:52390473..52390475 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*3986A>C single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000364446]|Platelet-type bleeding disorder 9 [RCV000399204] Chr5:53094585 [GRCh38]
Chr5:52390415 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.-99G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000371467] Chr5:52989370 [GRCh38]
Chr5:52285200 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3763_*3764del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000265034]|Platelet-type bleeding disorder 9 [RCV000346928] Chr5:53094361..53094362 [GRCh38]
Chr5:52390191..52390192 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*2505_*2508CAAA[3] microsatellite Combined molybdoflavoprotein enzyme deficiency [RCV000351146]|Platelet-type bleeding disorder 9 [RCV000265110] Chr5:53093104..53093107 [GRCh38]
Chr5:52388934..52388937 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*1764del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000381440]|Platelet-type bleeding disorder 9 [RCV000378294] Chr5:53092357 [GRCh38]
Chr5:52388187 [GRCh37]
Chr5:5q11.2
likely benign
NM_004531.5(MOCS2):c.*44A>C single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000381148]|Molybdenum cofactor deficiency, complementation group B [RCV001154473]|Platelet-type bleeding disorder 9 [RCV000386161] Chr5:53098558 [GRCh38]
Chr5:52394388 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_002203.4(ITGA2):c.*2268dup duplication Platelet-type bleeding disorder 9 [RCV000354291] Chr5:53092864..53092865 [GRCh38]
Chr5:52388694..52388695 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*475_*477del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000266621]|Platelet-type bleeding disorder 9 [RCV000379096] Chr5:53091072..53091074 [GRCh38]
Chr5:52386902..52386904 [GRCh37]
Chr5:5q11.2
benign
NM_004531.5(MOCS2):c.*413del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000267699]|Platelet-type bleeding disorder 9 [RCV000388960] Chr5:53098189 [GRCh38]
Chr5:52394019 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*2939C>T single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000405467]|Platelet-type bleeding disorder 9 [RCV000399600] Chr5:53093538 [GRCh38]
Chr5:52389368 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*236del deletion Platelet-type bleeding disorder 9 [RCV000373185] Chr5:53090831 [GRCh38]
Chr5:52386661 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.*1044_*1045dup duplication Platelet-type bleeding disorder 9 [RCV000392474] Chr5:53091641..53091642 [GRCh38]
Chr5:52387471..52387472 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2570C>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000391037]|Platelet-type bleeding disorder 9 [RCV000271435] Chr5:53093169 [GRCh38]
Chr5:52388999 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.*3026A>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000404027]|Platelet-type bleeding disorder 9 [RCV000407771] Chr5:53093625 [GRCh38]
Chr5:52389455 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*609T>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000339777] Chr5:53091208 [GRCh38]
Chr5:52387038 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2782C>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV000374403] Chr5:53093381 [GRCh38]
Chr5:52389211 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_004531.5(MOCS2):c.*321A>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000377223]|Molybdenum cofactor deficiency, complementation group B [RCV001154470]|Platelet-type bleeding disorder 9 [RCV000276645] Chr5:53098281 [GRCh38]
Chr5:52394111 [GRCh37]
Chr5:5q11.2
benign|likely benign|uncertain significance
NM_002203.4(ITGA2):c.*4045_*4051del deletion Platelet-type bleeding disorder 9 [RCV000300121] Chr5:53094640..53094646 [GRCh38]
Chr5:52390470..52390476 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.3110del (p.Phe1037fs) deletion Platelet-type bleeding disorder 9 [RCV000341254] Chr5:53081660 [GRCh38]
Chr5:52377490 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_004531.5(MOCS2):c.*171G>C single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000289879]|Molybdenum cofactor deficiency, complementation group B [RCV001154471]|Platelet-type bleeding disorder 9 [RCV000331679] Chr5:53098431 [GRCh38]
Chr5:52394261 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_002203.4(ITGA2):c.*721A>C single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000321716]|Platelet-type bleeding disorder 9 [RCV000290003] Chr5:53091320 [GRCh38]
Chr5:52387150 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*894C>T single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000290658]|Platelet-type bleeding disorder 9 [RCV000369221] Chr5:53091493 [GRCh38]
Chr5:52387323 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*3594_*3597delinsTTTATAAACAACTTTGTAGGACT indel Platelet-type bleeding disorder 9 [RCV000343318] Chr5:53094193..53094196 [GRCh38]
Chr5:52390023..52390026 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2450G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV000359889] Chr5:53093049 [GRCh38]
Chr5:52388879 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2570C>T single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000292838]|Platelet-type bleeding disorder 9 [RCV000326543] Chr5:53093169 [GRCh38]
Chr5:52388999 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_002203.4(ITGA2):c.*2041del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000296281]|Platelet-type bleeding disorder 9 [RCV000344263] Chr5:53092625 [GRCh38]
Chr5:52388455 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*2940G>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000298934]|Platelet-type bleeding disorder 9 [RCV000304662] Chr5:53093539 [GRCh38]
Chr5:52389369 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*722T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152765] Chr5:53091321 [GRCh38]
Chr5:52387151 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*803G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152766] Chr5:53091402 [GRCh38]
Chr5:52387232 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.-35C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152458] Chr5:52989434 [GRCh38]
Chr5:52285264 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.1141G>A (p.Val381Met) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152546] Chr5:53058069 [GRCh38]
Chr5:52353899 [GRCh37]
Chr5:5q11.2
benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5q11.2(chr5:50824656-53452371)x1 copy number loss See cases [RCV000511681] Chr5:50824656..53452371 [GRCh37]
Chr5:5q11.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002203.4(ITGA2):c.1302T>C (p.Ser434=) single nucleotide variant not provided [RCV000898544] Chr5:53060002 [GRCh38]
Chr5:52355832 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.2583A>G (p.Thr861=) single nucleotide variant not provided [RCV000914389] Chr5:53074396 [GRCh38]
Chr5:52370226 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.268G>A (p.Ala90Thr) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001153730]|not provided [RCV000903946] Chr5:53042194 [GRCh38]
Chr5:52338024 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.1944-7C>A single nucleotide variant not provided [RCV000914952] Chr5:53067111 [GRCh38]
Chr5:52362941 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.*3166G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001151199] Chr5:53093765 [GRCh38]
Chr5:52389595 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3331A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001151200] Chr5:53093930 [GRCh38]
Chr5:52389760 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.*3398T>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001151201] Chr5:53093997 [GRCh38]
Chr5:52389827 [GRCh37]
Chr5:5q11.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_002203.4(ITGA2):c.2914A>T (p.Ile972Phe) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152659] Chr5:53078860 [GRCh38]
Chr5:52374690 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.3003C>A (p.Asn1001Lys) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152660] Chr5:53080585 [GRCh38]
Chr5:52376415 [GRCh37]
Chr5:5q11.2
benign
NM_004531.5(MOCS2):c.*2582A>C single nucleotide variant Molybdenum cofactor deficiency, complementation group B [RCV001151318]|Platelet-type bleeding disorder 9 [RCV001156773] Chr5:53096020 [GRCh38]
Chr5:52391850 [GRCh37]
Chr5:5q11.2
benign
GRCh37/hg19 5q11.2(chr5:52053923-52680028)x3 copy number gain not provided [RCV000847276] Chr5:52053923..52680028 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.2236-62T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV000987524] Chr5:53071876 [GRCh38]
Chr5:52367706 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.3034G>A (p.Asp1012Asn) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001153939] Chr5:53080616 [GRCh38]
Chr5:52376446 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*3404T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154269] Chr5:53094003 [GRCh38]
Chr5:52389833 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_004531.5(MOCS2):c.*1913G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group B [RCV001154365]|Platelet-type bleeding disorder 9 [RCV001154364] Chr5:53096689 [GRCh38]
Chr5:52392519 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_004531.5(MOCS2):c.*1872C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group B [RCV001154367]|Platelet-type bleeding disorder 9 [RCV001154366] Chr5:53096730 [GRCh38]
Chr5:52392560 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*2690G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154999] Chr5:53093289 [GRCh38]
Chr5:52389119 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*465T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001158243] Chr5:53091064 [GRCh38]
Chr5:52386894 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*483G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001158244] Chr5:53091082 [GRCh38]
Chr5:52386912 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*1300C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154037] Chr5:53091899 [GRCh38]
Chr5:52387729 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*67G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154794] Chr5:53090666 [GRCh38]
Chr5:52386496 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*1635A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154883] Chr5:53092234 [GRCh38]
Chr5:52388064 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*1897A>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154884] Chr5:53092496 [GRCh38]
Chr5:52388326 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.1441G>A (p.Ala481Thr) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152549] Chr5:53061029 [GRCh38]
Chr5:52356859 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.2742-4A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152657] Chr5:53075217 [GRCh38]
Chr5:52371047 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.602G>A (p.Gly201Asp) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001156345] Chr5:53048742 [GRCh38]
Chr5:52344572 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.2235G>T (p.Gln745His) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001156464] Chr5:53070260 [GRCh38]
Chr5:52366090 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*1980T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001156556] Chr5:53092579 [GRCh38]
Chr5:52388409 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2009C>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001156557] Chr5:53092608 [GRCh38]
Chr5:52388438 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*1915G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154885] Chr5:53092514 [GRCh38]
Chr5:52388344 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*2051A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001156558] Chr5:53092650 [GRCh38]
Chr5:52388480 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2064C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV001156559] Chr5:53092663 [GRCh38]
Chr5:52388493 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*1957G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001156555] Chr5:53092556 [GRCh38]
Chr5:52388386 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.2571+15C>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001158126] Chr5:53073274 [GRCh38]
Chr5:52369104 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.871A>T (p.Met291Leu) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001158024] Chr5:53055629 [GRCh38]
Chr5:52351459 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.2485C>G (p.Leu829Val) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001158125] Chr5:53073173 [GRCh38]
Chr5:52369003 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.-89T>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152457] Chr5:52989380 [GRCh38]
Chr5:52285210 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.1372C>T (p.Arg458Trp) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152548] Chr5:53060960 [GRCh38]
Chr5:52356790 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.171T>A (p.Asn57Lys) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001153729] Chr5:53026854 [GRCh38]
Chr5:52322684 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*4083G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001155110] Chr5:53094682 [GRCh38]
Chr5:52390512 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.502+12A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001153731] Chr5:53048489 [GRCh38]
Chr5:52344319 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*1346C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154038] Chr5:53091945 [GRCh38]
Chr5:52387775 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*1365G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154039] Chr5:53091964 [GRCh38]
Chr5:52387794 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*1449T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154040] Chr5:53092048 [GRCh38]
Chr5:52387878 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.573A>G (p.Val191=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001153732] Chr5:53048713 [GRCh38]
Chr5:52344543 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*2648A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154158] Chr5:53093247 [GRCh38]
Chr5:52389077 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3455A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154270] Chr5:53094054 [GRCh38]
Chr5:52389884 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3813G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group B [RCV001154274]|Platelet-type bleeding disorder 9 [RCV001154273] Chr5:53094412 [GRCh38]
Chr5:52390242 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.1524G>A (p.Val508=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152550] Chr5:53062851 [GRCh38]
Chr5:52358681 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.2730C>T (p.Phe910=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152656] Chr5:53075126 [GRCh38]
Chr5:52370956 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.2796C>G (p.Leu932=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152658] Chr5:53075275 [GRCh38]
Chr5:52371105 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.2608T>C (p.Ser870Pro) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001158127] Chr5:53074421 [GRCh38]
Chr5:52370251 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.*661T>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001158245] Chr5:53091260 [GRCh38]
Chr5:52387090 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*682A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001158246] Chr5:53091281 [GRCh38]
Chr5:52387111 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*707G>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001158247] Chr5:53091306 [GRCh38]
Chr5:52387136 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.2427dup (p.Gln810fs) duplication See cases [RCV001197587] Chr5:53072692..53072693 [GRCh38]
Chr5:52368522..52368523 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.123C>T (p.Ser41=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152459] Chr5:53026806 [GRCh38]
Chr5:52322636 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.1176T>C (p.Asp392=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152547] Chr5:53059876 [GRCh38]
Chr5:52355706 [GRCh37]
Chr5:5q11.2
likely benign
NM_002203.4(ITGA2):c.*2682T>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154998] Chr5:53093281 [GRCh38]
Chr5:52389111 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_004531.5(MOCS2):c.*2045G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group B [RCV001151325]|Platelet-type bleeding disorder 9 [RCV001151324] Chr5:53096557 [GRCh38]
Chr5:52392387 [GRCh37]
Chr5:5q11.2
benign|uncertain significance
NM_004531.5(MOCS2):c.*2158C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group B [RCV001151323]|Platelet-type bleeding disorder 9 [RCV001151322] Chr5:53096444 [GRCh38]
Chr5:52392274 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*3724T>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154272] Chr5:53094323 [GRCh38]
Chr5:52390153 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.996C>T (p.Ile332=) single nucleotide variant Platelet-type bleeding disorder 9 [RCV001158025] Chr5:53056049 [GRCh38]
Chr5:52351879 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*2367G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152877] Chr5:53092966 [GRCh38]
Chr5:52388796 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*3597A>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154271] Chr5:53094196 [GRCh38]
Chr5:52390026 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*298A>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154795] Chr5:53090897 [GRCh38]
Chr5:52386727 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_002203.4(ITGA2):c.*422C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154796] Chr5:53091021 [GRCh38]
Chr5:52386851 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_004531.5(MOCS2):c.*2415C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group B [RCV001151320]|Platelet-type bleeding disorder 9 [RCV001151319] Chr5:53096187 [GRCh38]
Chr5:52392017 [GRCh37]
Chr5:5q11.2
benign
NM_002203.4(ITGA2):c.*2414G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001152878] Chr5:53093013 [GRCh38]
Chr5:52388843 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_004531.5(MOCS2):c.*2032G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group B [RCV001154362]|Platelet-type bleeding disorder 9 [RCV001154361] Chr5:53096570 [GRCh38]
Chr5:52392400 [GRCh37]
Chr5:5q11.2
benign
GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1 copy number loss not provided [RCV001258850] Chr5:49430268..53182665 [GRCh37]
Chr5:5q11.1-11.2
pathogenic
NM_002203.4(ITGA2):c.2429+2T>G single nucleotide variant Platelet-type bleeding disorder 9 [RCV001334019] Chr5:53072697 [GRCh38]
Chr5:52368527 [GRCh37]
Chr5:5q11.2
pathogenic
NM_002203.4(ITGA2):c.2418del (p.Pro807fs) deletion Platelet-type bleeding disorder 9 [RCV001334018] Chr5:53072684 [GRCh38]
Chr5:52368514 [GRCh37]
Chr5:5q11.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6137 AgrOrtholog
COSMIC ITGA2 COSMIC
Ensembl Genes ENSG00000164171 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000296585 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422095 UniProtKB/TrEMBL
  ENSP00000422145 UniProtKB/TrEMBL
  ENSP00000424397 UniProtKB/TrEMBL
  ENSP00000424642 UniProtKB/TrEMBL
  ENSP00000426489 UniProtKB/TrEMBL
Ensembl Transcript ENST00000296585 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000503810 UniProtKB/TrEMBL
  ENST00000509814 UniProtKB/TrEMBL
  ENST00000509960 UniProtKB/TrEMBL
  ENST00000510722 UniProtKB/TrEMBL
  ENST00000513685 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164171 GTEx
HGNC ID HGNC:6137 ENTREZGENE
Human Proteome Map ITGA2 Human Proteome Map
InterPro FG-GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Int_alpha_beta-p UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha_C_CS UniProtKB/Swiss-Prot
  Integrin_alpha_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3673 UniProtKB/Swiss-Prot
NCBI Gene 3673 ENTREZGENE
OMIM 192974 OMIM
  614200 OMIM
Pfam FG-GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ITGA2 RGD, PharmGKB
PRINTS INTEGRINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FG_GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTEGRIN_ALPHA UniProtKB/Swiss-Prot
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Int_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF69179 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0X8AZ85_HUMAN UniProtKB/TrEMBL
  D6R9H3_HUMAN UniProtKB/TrEMBL
  D6RG08_HUMAN UniProtKB/TrEMBL
  E7EMF1_HUMAN UniProtKB/TrEMBL
  E7ESP4_HUMAN UniProtKB/TrEMBL
  E9PB77_HUMAN UniProtKB/TrEMBL
  F1C627_HUMAN UniProtKB/TrEMBL
  F1C628_HUMAN UniProtKB/TrEMBL
  F1C629_HUMAN UniProtKB/TrEMBL
  G3LGR5_HUMAN UniProtKB/TrEMBL
  ITA2_HUMAN UniProtKB/Swiss-Prot
  L0R6I3_HUMAN UniProtKB/TrEMBL
  P17301 ENTREZGENE
  Q71V33_HUMAN UniProtKB/TrEMBL
  Q9NNZ2_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q14595 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 ITGA2  integrin subunit alpha 2    integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)  Symbol and/or name change 5135510 APPROVED