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Gene

COL1A2

collagen type I alpha 2 chain

Summary

Cytogenetic location
7q21.3
Coordinates
Chromosome 7: 94,394,895–94,431,227 (GRCh38)
Exons
52 exons across 36.3 kb
Protein
1,366 amino acids
Previous symbols
OI4
MANE Select transcript
ENST00000297268.11NM_000089.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Ehlers-Danlos Syndrome

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

How COL1A2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 7, with a bracket where COL1A2 sits. COL1A2 and 6 genes near it on chromosome 7, from 93,913,061 to 94,913,060.Chromosome 77q21.3p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.394 Mb94.2 Mb94.4 Mb94.6 Mb94.8 MbGNG11: 93,921,443–93,928,610, forward strandGNG11BET1: 93,962,762–94,004,383, reverse strandBET1COL1A2: 94,394,895–94,431,227, forward strandCOL1A2CASD1: 94,509,219–94,576,851, forward strandCASD1SGCE: 94,524,204–94,656,572, reverse strandSGCEPEG10: 94,656,325–94,669,695, forward strandPEG10PPP1R9A: 94,907,202–95,296,415, forward strandPPP1R9ADiagram of COL1A2: 52 exons on the forward strand of chromosome 7Exon 5: 2 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 8: 8 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 12: 9 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 15: 6 known disease-causing sitesExon 16: 11 known disease-causing sitesExon 17: 19 known disease-causing sitesExon 18: 9 known disease-causing sitesExon 19: 16 known disease-causing sitesExon 20: 5 known disease-causing sitesExon 21: 12 known disease-causing sitesExon 22: 7 known disease-causing sitesExon 23: 9 known disease-causing sitesExon 24: 4 known disease-causing sitesExon 25: 14 known disease-causing sitesExon 26: 12 known disease-causing sitesExon 27: 6 known disease-causing sitesExon 28: 4 known disease-causing sitesExon 29: 8 known disease-causing sitesExon 30: 2 known disease-causing sitesExon 31: 16 known disease-causing sitesExon 32: 10 known disease-causing sitesExon 33: 8 known disease-causing sitesExon 34: 6 known disease-causing sitesExon 35: 6 known disease-causing sitesExon 36: 6 known disease-causing sitesExon 37: 17 known disease-causing sitesExon 38: 14 known disease-causing sitesExon 39: 8 known disease-causing sitesExon 40: 19 known disease-causing sitesExon 41: 8 known disease-causing sitesExon 42: 14 known disease-causing sitesExon 43: 5 known disease-causing sitesExon 44: 10 known disease-causing sitesExon 45: 9 known disease-causing sitesExon 46: 8 known disease-causing sitesExon 47: 8 known disease-causing sitesExon 48: 9 known disease-causing sitesExon 49: 18 known disease-causing sitesExon 50: 4 known disease-causing sitesExon 51: 6 known disease-causing sitesExon 52: 4 known disease-causing sitesExon 1: 94,394,895–94,395,101, 207 basesExon 2: 94,397,748–94,397,758, 11 basesExon 3: 94,398,382–94,398,396, 15 basesExon 4: 94,399,049–94,399,084, 36 basesExon 5: 94,400,196–94,400,288, 93 basesExon 6: 94,401,567–94,401,620, 54 basesExon 7: 94,404,556–94,404,600, 45 basesExon 8: 94,404,693–94,404,746, 54 basesExon 9: 94,404,839–94,404,892, 54 basesExon 10: 94,405,199–94,405,252, 54 basesExon 11: 94,405,673–94,405,726, 54 basesExon 12: 94,406,250–94,406,303, 54 basesExon 13: 94,407,847–94,407,891, 45 basesExon 14: 94,408,183–94,408,236, 54 basesExon 15: 94,408,336–94,408,380, 45 basesExon 16: 94,408,770–94,408,823, 54 basesExon 17: 94,409,322–94,409,420, 99 basesExon 18: 94,409,564–94,409,608, 45 basesExon 19: 94,409,723–94,409,821, 99 basesExon 20: 94,410,242–94,410,295, 54 basesExon 21: 94,410,420–94,410,527, 108 basesExon 22: 94,410,889–94,410,942, 54 basesExon 23: 94,411,056–94,411,154, 99 basesExon 24: 94,412,068–94,412,121, 54 basesExon 25: 94,412,584–94,412,682, 99 basesExon 26: 94,413,083–94,413,136, 54 basesExon 27: 94,413,690–94,413,743, 54 basesExon 28: 94,413,894–94,413,947, 54 basesExon 29: 94,414,222–94,414,275, 54 basesExon 30: 94,415,226–94,415,270, 45 basesExon 31: 94,416,405–94,416,503, 99 basesExon 32: 94,417,724–94,417,831, 108 basesExon 33: 94,418,499–94,418,552, 54 basesExon 34: 94,419,498–94,419,551, 54 basesExon 35: 94,420,233–94,420,286, 54 basesExon 36: 94,420,391–94,420,444, 54 basesExon 37: 94,420,541–94,420,648, 108 basesExon 38: 94,421,009–94,421,062, 54 basesExon 39: 94,421,899–94,421,952, 54 basesExon 40: 94,422,957–94,423,118, 162 basesExon 41: 94,424,336–94,424,443, 108 basesExon 42: 94,425,117–94,425,224, 108 basesExon 43: 94,425,610–94,425,663, 54 basesExon 44: 94,425,750–94,425,857, 108 basesExon 45: 94,425,998–94,426,051, 54 basesExon 46: 94,426,423–94,426,530, 108 basesExon 47: 94,427,008–94,427,061, 54 basesExon 48: 94,427,188–94,427,295, 108 basesExon 49: 94,427,627–94,427,885, 259 basesExon 50: 94,428,293–94,428,477, 185 basesExon 51: 94,429,188–94,429,430, 243 basesExon 52: 94,430,247–94,431,227, 981 bases15101520253035404550525′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.1 kb of the gene's 36.3 kb; 4,101 of those bases code for the protein.

How a genome test reads COL1A2

474

positions in COL1A2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 36.3 kb of COL1A2, introns included, not only the 5.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). COL1A2 gene: collagen type I alpha 2 chain. Retrieved 17 October 2026, from https://dantelabs.com/genes/col1a2

Vancouver

Dante Labs. COL1A2 gene: collagen type I alpha 2 chain [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col1a2

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