Linked Data
ClinVar Variation Id:
40247
ClinVar RCV Id:
RCV000033245
dbSNP Id:
rs397514659
PubMed:
PMID:21555342
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64492970G>C , CM000679.2:g.64492970G>C | GRCh38 |
| NC_000017.10:g.62489087G>C , CM000679.1:g.62489087G>C | GRCh37 |
| NC_000017.9:g.59919549G>C | NCBI36 |
| NG_013029.1:g.9098C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539111.7:c.614C>G (POLG2) MANE Select | ENSP00000442563.2:p.Pro205Arg | |
| ENST00000585104.2:n.585C>G (POLG2) | ||
| ENST00000671755.1:c.585C>G (POLG2) | ||
| ENST00000673460.1:c.585C>G (POLG2) | ||
| ENST00000539111.6:c.614C>G (POLG2) | ENSP00000442563.2:p.Pro205Arg | |
| ENST00000578997.1:c.276C>G (POLG2) | ENSP00000464389.1:n.276C>G | |
| ENST00000580893.5:n.52C>G (POLG2) | ||
| ENST00000585141.5:n.665C>G (POLG2) | ||
| NM_007215.3:c.614C>G (POLG2) | NP_009146.2:p.Pro205Arg | |
| XM_006721651.2:c.614C>G (POLG2) | XP_006721714.1:p.Pro205Arg | |
| XR_243630.1:n.665C>G (POLG2) | ||
| XR_934357.1:n.665C>G (POLG2) | ||
| XR_934358.1:n.665C>G (POLG2) | ||
| XM_024450708.1:c.*29-3351G>C (MILR1) | XP_024306476.1:n.*29-3351G>C | |
| XR_002957989.1:n.1270+623G>C (MILR1) | ||
| XR_002957990.1:n.1270+623G>C (MILR1) | ||
| NM_007215.4:c.614C>G (POLG2) MANE Select | NP_009146.2:p.Pro205Arg |