Gene entry
TGFB2
transforming growth factor beta 2
- Chromosome
- 1
- Cytoband
- 1q41
- Variants (rsID)
- 50
TGFB2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q41). Its official name is “transforming growth factor beta 2”. The reference table lists 50 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs10482721Benignsingle nucleotide variantHirschsprung disease, susceptibility to, 1|Cardiovascular phenotype|Loeys-Dietz syndrome 4|Holt-Oram syndrome|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome
- rs10482810Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 4|Cardiovascular phenotype|Holt-Oram syndrome|Ehlers-Danlos syndrome
- rs73110310Benignsingle nucleotide variantLoeys-Dietz syndrome 4
- rs991967Benignsingle nucleotide variantLoeys-Dietz syndrome 4
- rs149533093Conflicting interpretationssingle nucleotide variantLoeys-Dietz syndrome 4|Aortic aneurysm|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome
- rs192335285Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Loeys-Dietz syndrome 4|Ehlers-Danlos syndrome
- rs398122883Conflicting interpretationsDeletionLoeys-Dietz syndrome 4
- rs1106569Likely benignsingle nucleotide variant
- rs376354795Likely benignsingle nucleotide variantLoeys-Dietz syndrome 4
- rs387907278Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 4
- rs398122884PathogenicDeletionLoeys-Dietz syndrome 4
- rs869312903Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 4|Inborn genetic diseases|Aortic aneurysm, familial thoracic, TGFB2 related
Other listed variants
- rs1317681
- rs1342586
- rs1418555
- rs1539399
- rs1890995
- rs2796818
- rs2799083
- rs2799085
- rs3892225
- rs4335431
- rs4846480
- rs6604604
- rs6657275
- rs6662137
- rs6691070
- rs7550232
- rs10482787
- rs10482793
- rs10482822
- rs10482832
- rs10482836
- rs11466382
- rs11466383
- rs12058014
- rs12088579
- rs17047740
- rs17047756
- rs73110352
- rs73110353
- rs74143055
- rs75342095
- rs76933647
- rs77620595
- rs78286557
- rs78331112
- rs114954492
- rs115887817
- rs566076891
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.