{{Rsnum
|rsid=2228063
|Gene=CA2
|Chromosome=8
|position=85480760
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.02847
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CA2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 77.6 | 21.8 | 0.7
| ASW | 73.2 | 26.8 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 80.0 | 19.1 | 0.9
| MEX | 98.3 | 1.7 | 0.0
| MKK | 97.4 | 2.6 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
| id = 259730
| variant = 0001
| desc    = CARBONIC ANHYDRASE II VARIANT
| rsnum   = 2228063
}}

{{omim
|id=611492
|rsnum=2228063
|variant=0001
}}

{{ClinVar
|rsid=2228063
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=86392989
|CHROM=8
|GMAF=0.0284
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x050360000000150517110100
|GENEINFO=CA2:760
|GENE_NAME=CA2
|GENE_ID=760
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.86392989A>G
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9715; 0.02847
|CLNACC=RCV000000961.1
|CLNDBN=CARBONIC ANHYDRASE II VARIANT
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=611492.0001
|COMMON=1
|Disease=CARBONIC ANHYDRASE II VARIANT
}}

{{GET Evidence
|gene=CA2
|aa_change=Asn252Asp
|aa_change_short=N252D
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2228063
|overall_frequency_n=323
|overall_frequency_d=10758
|overall_frequency=0.0300242
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|nblosum100=-1
|autoscore=4
|webscore=N
|n_web_uneval=4
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Illumina Human 1M}}