{{Rsnum
|rsid = 3021119
|Gene = PCK2
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Chromosome=14
|position=24098289
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NRL,PCK2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=3021119
|allele=C
|frequency=1
|uid=1103649011137
|type=homozygous_SNP
|hugo=PCK2
|ensembl gene=ENSG00000100889
|ensembl transcript=ENST00000216780
|sift=TOLERATED
|disease=Defects in PCK2 are the cause of phosphoenolpyruvate carboxykinase deficiency (MIM:261650). This defect leads to hypoglycemia.
}}

{{GET Evidence
|gene=PCK2
|aa_change=Gln121Pro
|aa_change_short=Q121P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3021119
|overall_frequency_n=128
|overall_frequency_d=128
|overall_frequency=1
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=112
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=4
|autoscore=2
|n_web_uneval=1
}}
{{on chip | 23andMe v3}}