{{Rsnum
|rsid=2070739
|Gene=COL2A1
|Chromosome=12
|position=47974193
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1956
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=COL2A1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 1.8 | 16.8 | 81.4
| HCB | 16.2 | 51.5 | 32.4
| JPT | 21.2 | 48.7 | 30.1
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 5.3 | 94.7
| CHB | 16.2 | 51.5 | 32.4
| CHD | 15.6 | 42.2 | 42.2
| GIH | 4.0 | 12.9 | 83.2
| LWK | 0.0 | 0.0 | 0.0
| MEX | 13.8 | 53.4 | 32.8
| MKK | 0.0 | 3.8 | 96.2
| TSI | 0.0 | 16.7 | 83.3
| HapMapRevision=28
}}{{Venter SNP
|rsid=2070739
|allele=T
|frequency=0.083
|uid=1103649434880
|type=heterozygous_SNP
|hugo=COL2A1
|ensembl gene=ENSG00000139219
|ensembl transcript=ENST00000337299
|sift=AFFECT FUNCTION
|disease=Of special interest are three different variants that replace arginine codons at positions 206, 650 and 920 in the triple-helical domain with codons for cysteine, an amino acid not normally found in the triple-helical domain of type II collagen from any species. They are of special interest, because they are the only amino acid substitutions in the triple-helical domain that replaces a Y-position amino acid and cause a disease phenotype. Also, they are recurrent in that they have been found in more than one unrelated individual.
}}

{{PMID Auto
|PMID=17697348
|Title=Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
|OA=1
}}

{{PMID Auto
|PMID=18523590
|Title=Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.
|OA=1
}}

{{PMID Auto
|PMID=19430638
|Title=Host genetic and epigenetic factors in toxoplasmosis.
|OA=1
}}

{{GET Evidence
|gene=COL2A1
|aa_change=Gly1405Ser
|aa_change_short=G1405S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2070739
|overall_frequency_n=740
|overall_frequency_d=10758
|overall_frequency=0.068786
|n_genomes=13
|n_genomes_annotated=0
|n_haplomes=14
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}