ClinVar

t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)

Genes:

• ALK:ALK receptor tyrosine kinase [Gene - OMIM - HGNC]
• CEBPZ:CCAAT enhancer binding protein zeta [Gene - OMIM - HGNC]
• CDC42EP3:CDC42 effector protein 3 [Gene - OMIM - HGNC]
• DHX57:DExH-box helicase 57 [Gene - HGNC]
• EHD3:EH domain containing 3 [Gene - OMIM - HGNC]
• EML4:EMAP like 4 [Gene - OMIM - HGNC]
• GPATCH11:G-patch domain containing 11 [Gene - HGNC]
• HEATR5B:HEAT repeat containing 5B [Gene - OMIM - HGNC]
• LBH:LBH regulator of WNT signaling pathway [Gene - OMIM - HGNC]
• MORN2:MORN repeat containing 2 [Gene - HGNC]
• NDUFAF7:NADH:ubiquinone oxidoreductase complex assembly factor 7 [Gene - OMIM - HGNC]
• NLRC4:NLR family CARD domain containing 4 [Gene - OMIM - HGNC]
• RASGRP3:RAS guanyl releasing protein 3 [Gene - OMIM - HGNC]
• ARHGEF33:Rho guanine nucleotide exchange factor 33 [Gene - HGNC]
• SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
• SOS1-IT1:SOS1 intronic transcript 1 [Gene - HGNC]
• THUMPD2:THUMP domain containing 2 [Gene - OMIM - HGNC]
• YIPF4:Yip1 domain family member 4 [Gene - OMIM - HGNC]
• ATL2:atlastin GTPase 2 [Gene - OMIM - HGNC]
• BIRC6:baculoviral IAP repeat containing 6 [Gene - OMIM - HGNC]
• CAPN13:calpain 13 [Gene - OMIM - HGNC]
• CAPN14:calpain 14 [Gene - OMIM - HGNC]
• CDKL4:cyclin dependent kinase like 4 [Gene - HGNC]
• CRIM1:cysteine rich transmembrane BMP regulator 1 [Gene - OMIM - HGNC]
• CYP1B1:cytochrome P450 family 1 subfamily B member 1 [Gene - OMIM - HGNC]
• DPY30:dpy-30 histone methyltransferase complex regulatory subunit [Gene - OMIM - HGNC]
• EIF2AK2:eukaryotic translation initiation factor 2 alpha kinase 2 [Gene - OMIM - HGNC]
• FAM98A:family with sequence similarity 98 member A [Gene - HGNC]
• FEZ2:fasciculation and elongation protein zeta 2 [Gene - OMIM - HGNC]
• GALM:galactose mutarotase [Gene - OMIM - HGNC]
• GEMIN6:gem nuclear organelle associated protein 6 [Gene - OMIM - HGNC]
• QPCT:glutaminyl-peptide cyclotransferase [Gene - OMIM - HGNC]
• HNRNPLL:heterogeneous nuclear ribonucleoprotein L like [Gene - OMIM - HGNC]
• LTBP1:latent transforming growth factor beta binding protein 1 [Gene - OMIM - HGNC]
• LINC02898:long intergenic non-protein coding RNA 2898 [Gene - HGNC]
• LCLAT1:lysocardiolipin acyltransferase 1 [Gene - OMIM - HGNC]
• MEMO1:mediator of cell motility 1 [Gene - OMIM - HGNC]
• MAP4K3:mitogen-activated protein kinase kinase kinase kinase 3 [Gene - OMIM - HGNC]
• GALNT14:polypeptide N-acetylgalactosaminyltransferase 14 [Gene - OMIM - HGNC]
• PRKD3:protein kinase D3 [Gene - OMIM - HGNC]
• PKDCC:protein kinase domain containing, cytoplasmic [Gene - OMIM - HGNC]
• RMDN2:regulator of microtubule dynamics 2 [Gene - OMIM - HGNC]
• SRSF7:serine and arginine rich splicing factor 7 [Gene - OMIM - HGNC]
• SLC30A6:solute carrier family 30 member 6 [Gene - OMIM - HGNC]
• SLC8A1:solute carrier family 8 member A1 [Gene - OMIM - HGNC]
• SPAST:spastin [Gene - OMIM - HGNC]
• SRD5A2:steroid 5 alpha-reductase 2 [Gene - OMIM - HGNC]
• STRN:striatin [Gene - OMIM - HGNC]
• SULT6B1:sulfotransferase family 6B member 1 [Gene - OMIM - HGNC]
• TTC27:tetratricopeptide repeat domain 27 [Gene - HGNC]
• TMEM178A:transmembrane protein 178A [Gene - HGNC]
• VIT:vitrin [Gene - OMIM - HGNC]
• XDH:xanthine dehydrogenase [Gene - OMIM - HGNC]
• YPEL5:yippee like 5 [Gene - OMIM - HGNC]

Variant type:

Inversion

Cytogenetic location:

2p23.2-21

Genomic location:

Chr2: 29446394 - 42552694 (on Assembly GRCh37)

Preferred name:

t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)

HGVS:

NC_000002.11:g.29446394_42552694inv

This HGVS expression did not pass validation

Functional consequence:

protein fusion [Variation Ontology: 0228]