COSMIC:
COSN6644038 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46119049 (NFE)
Genomes Max Group AF
0.45283605 (NFE)
Exomes Max Group AF
0.46147218 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11276073C>G , CM000678.2:g.11276073C>G | GRCh38 |
| NC_000016.9:g.11369930C>G , CM000678.1:g.11369930C>G | GRCh37 |
| NC_000016.8:g.11277431C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241808.9:c.271+27G>C (PRM2) MANE Select | ENSP00000241808.5:n.271+27G>C | |
| ENST00000649869.1:n.152+26295C>G (RMI2) | ||
| ENST00000241808.8:c.271+27G>C (PRM2) | ENSP00000241808.4:n.271+27G>C | |
| ENST00000435245.2:c.271+27G>C (PRM2) | ENSP00000403681.2:n.271+27G>C | |
| ENST00000572173.1:c.-515-19143C>G (RMI2) | ENSP00000461206.1:n.-515-19143C>G | |
| ENST00000573910.1:n.160+26295C>G (RMI2) | ||
| NM_001286356.1:c.271+27G>C (PRM2) | NP_001273285.1:n.271+27G>C | |
| NM_001286357.1:c.227+71G>C (PRM2) | NP_001273286.1:n.227+71G>C | |
| NM_001286358.1:c.271+27G>C (PRM2) | NP_001273287.1:n.271+27G>C | |
| NM_001286359.1:c.298G>C (PRM2) | NP_001273288.1:p.Ala100Pro | |
| NM_002762.3:c.271+27G>C (PRM2) | NP_002753.2:n.271+27G>C | |
| NR_104428.1:n.381+27G>C (PRM2) | ||
| XR_933070.1:n.733+26295C>G | ||
| XR_933070.3:n.876+26295C>G | ||
| NM_001286356.2:c.271+27G>C (PRM2) | NP_001273285.1:n.271+27G>C | |
| NM_001286357.2:c.227+71G>C (PRM2) | NP_001273286.1:n.227+71G>C | |
| NM_001286358.2:c.271+27G>C (PRM2) | NP_001273287.1:n.271+27G>C | |
| NM_001286359.2:c.298G>C (PRM2) | NP_001273288.1:p.Ala100Pro | |
| NM_002762.4:c.271+27G>C (PRM2) MANE Select | NP_002753.2:n.271+27G>C | |
| NR_104428.2:n.381+27G>C (PRM2) |