Linked Data
ClinVar Variation Id:
252958
dbSNP Id:
rs886037843
gnomAD v2:
17-62492543-G-A
gnomAD v3:
17-64496425-G-A
gnomAD v4:
17-64496425-G-A
PubMed:
PMID:27592148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64496425G>A , CM000679.2:g.64496425G>A | GRCh38 |
| NC_000017.10:g.62492543G>A , CM000679.1:g.62492543G>A | GRCh37 |
| NC_000017.9:g.59923005G>A | NCBI36 |
| NG_013029.1:g.5642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539111.7:c.544C>T (POLG2) MANE Select | ENSP00000442563.2:p.Arg182Trp | |
| ENST00000585104.2:n.515C>T (POLG2) | ||
| ENST00000671755.1:c.515C>T (POLG2) | ||
| ENST00000673460.1:c.515C>T (POLG2) | ||
| ENST00000539111.6:c.544C>T (POLG2) | ENSP00000442563.2:p.Arg182Trp | |
| ENST00000578997.1:c.224+107C>T (POLG2) | ENSP00000464389.1:n.224+107C>T | |
| ENST00000585141.5:n.595C>T (POLG2) | ||
| NM_007215.3:c.544C>T (POLG2) | NP_009146.2:p.Arg182Trp | |
| XM_006721651.2:c.544C>T (POLG2) | XP_006721714.1:p.Arg182Trp | |
| XR_243630.1:n.595C>T (POLG2) | ||
| XR_934357.1:n.595C>T (POLG2) | ||
| XR_934358.1:n.595C>T (POLG2) | ||
| XM_024450708.1:c.*133G>A (MILR1) | XP_024306476.1:n.*133G>A | |
| XR_002957990.1:n.1375G>A (MILR1) | ||
| NM_007215.4:c.544C>T (POLG2) MANE Select | NP_009146.2:p.Arg182Trp |