Linked Data
ClinVar Variation Id:
215034
ClinVar RCV Id:
RCV000676624
dbSNP Id:
rs139282177
ExAC:
17:62489111 A / G
gnomAD v2:
17-62489111-A-G
gnomAD v3:
17-64492994-A-G
gnomAD v4:
17-64492994-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64492994A>G , CM000679.2:g.64492994A>G | GRCh38 |
| NC_000017.10:g.62489111A>G , CM000679.1:g.62489111A>G | GRCh37 |
| NC_000017.9:g.59919573A>G | NCBI36 |
| NG_013029.1:g.9074T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539111.7:c.590T>C (POLG2) MANE Select | ENSP00000442563.2:p.Leu197Pro | |
| ENST00000585104.2:n.561T>C (POLG2) | ||
| ENST00000671755.1:c.561T>C (POLG2) | ||
| ENST00000673460.1:c.561T>C (POLG2) | ||
| ENST00000539111.6:c.590T>C (POLG2) | ENSP00000442563.2:p.Leu197Pro | |
| ENST00000578997.1:c.252T>C (POLG2) | ENSP00000464389.1:n.252T>C | |
| ENST00000580893.5:n.28T>C (POLG2) | ||
| ENST00000585141.5:n.641T>C (POLG2) | ||
| NM_007215.3:c.590T>C (POLG2) | NP_009146.2:p.Leu197Pro | |
| XM_006721651.2:c.590T>C (POLG2) | XP_006721714.1:p.Leu197Pro | |
| XR_243630.1:n.641T>C (POLG2) | ||
| XR_934357.1:n.641T>C (POLG2) | ||
| XR_934358.1:n.641T>C (POLG2) | ||
| XM_024450708.1:c.*29-3327A>G (MILR1) | XP_024306476.1:n.*29-3327A>G | |
| XR_002957989.1:n.1270+647A>G (MILR1) | ||
| XR_002957990.1:n.1270+647A>G (MILR1) | ||
| NM_007215.4:c.590T>C (POLG2) MANE Select | NP_009146.2:p.Leu197Pro |