View TGFBR2 gene homepage

General information
Gene symbol TGFBR2
Gene name transforming growth factor, beta receptor II (70/80kDa)
Chromosome 3
Chromosomal band p22
Imprinted Unknown
Genomic reference NG_007490.1
Transcript reference NM_001024847.2, NM_003242.5
Associated with diseases LDS2
Citation reference(s) -
Curators (3) Bart Loeys, Bart Loeys and Giada Tortora
Total number of public variants reported 251
Unique public DNA variants reported 122
Individuals with public variants 250
Hidden variants 0
Date created February 19, 2014
Date last updated April 16, 2018
Version TGFBR2:180416

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 11773
Entrez Gene 7048
PubMed articles TGFBR2
OMIM - Gene 190182
OMIM - Diseases LDS2 (Loeys-Dietz syndrome, type 2)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000004 3 transcript variant 2 NM_003242.5 NP_003233.4 243
00000003 3 transcript variant 1 NM_001024847.2 NP_001020018.1 15

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