The TGFB2 gene homepage

General information
Gene symbol TGFB2
Gene name transforming growth factor, beta 2
Chromosome 1
Chromosomal band q41
Imprinted Unknown
Genomic reference NG_027721.1
Transcript reference NM_001135599.2, NM_003238.3
Exon/intron information NM_003238.3 exon/intron table
Associated with diseases LDS-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 70
Unique public DNA variants reported 53
Individuals with public variants 81
Hidden variants 28
Date created May 03, 2013
Date last updated February 08, 2021
Version TGFB2:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_003238.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/TGFB2
HGNC 11768
Entrez Gene 7042
PubMed articles TGFB2
OMIM - Gene 190220
OMIM - Diseases LDS-4 (syndrome, Loeys-Dietz, type 4 (LDS_4))
HGMD TGFB2
GeneCards TGFB2
GeneTests TGFB2
Orphanet TGFB2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023842 1 transcript variant 1 NM_001135599.2 NP_001129071.1 69
00021044 1 transcript variant 2 NM_003238.3 NP_003229.1 68


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