The COL1A2 gene homepage

Osteogenesis Imperfecta Variant Database

General information
Gene symbol COL1A2
Gene name collagen type I alpha 2 chain
Chromosome 7
Chromosomal band q21.3
Imprinted Unknown
Genomic reference LRG_2
Transcript reference NM_000089.3
Exon/intron information NM_000089.3 exon/intron table
Associated with diseases EDS, EDSARTH2, EDSCV, OI, OI2, OI3, OI4, osteoporosis
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Gerard Pals, Sonna Stolk, Raymond Dalgleish, and Dimitra Micha
Total number of public variants reported 1640
Unique public DNA variants reported 852
Individuals with public variants 1431
Hidden variants 85
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
This database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)

This database is supported by
The Ehlers-Danlos Society
Date created February 19, 2008
Date last updated May 26, 2023
Version COL1A2:230526

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_000089.3.
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
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 2198
Entrez Gene 1278
PubMed articles COL1A2
OMIM - Gene 120160
OMIM - Diseases EDSARTH2 (Ehlers-Danlos syndrome, arthrochalasia, type 2)
EDSCV (Ehlers-Danlos syndrome, cardiac valvular form)
OI2 (osteogenesis imperfecta, type II (OI2))
OI3 (osteogenesis imperfecta, type III (OI3))
OI4 (osteogenesis imperfecta, type IV (OI4))
GeneCards COL1A2
GeneTests COL1A2
Orphanet COL1A2

Active transcripts




NCBI ID     

NCBI Protein ID     

00005456 7 collagen, type I, alpha 2 NM_000089.3 NP_000080.2 1640

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2008-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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