Revel Score:
ENST00000340023 (MANE Select)
0.509
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51768776G>A , CM000681.2:g.51768776G>A | GRCh38 |
| NC_000019.9:g.52272029G>A , CM000681.1:g.52272029G>A | GRCh37 |
| NC_000019.8:g.56963841G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594900.2:c.-12+8869C>T (FPR1) | ENSP00000470750.2:n.-12+8869C>T | |
| ENST00000340023.7:c.118G>A (FPR2) MANE Select | ENSP00000340191.4:p.Gly40Arg | |
| ENST00000340023.6:c.118G>A (FPR2) | ENSP00000340191.4:p.Gly40Arg | |
| ENST00000594900.1:c.-12+8869C>T (FPR1) | ENSP00000470750.1:n.-12+8869C>T | |
| ENST00000598776.1:c.118G>A (FPR2) | ENSP00000468897.1:p.Gly40Arg | |
| ENST00000598953.1:c.118G>A (FPR2) | ENSP00000468876.1:p.Gly40Arg | |
| ENST00000599326.1:c.118G>A (FPR2) | ENSP00000469085.1:p.Gly40Arg | |
| ENST00000600258.1:c.118G>A (FPR2) | ENSP00000470373.1:p.Gly40Arg | |
| ENST00000600722.1:c.118G>A (FPR2) | ENSP00000472259.1:p.Gly40Arg | |
| NM_001005738.1:c.118G>A (FPR2) | NP_001005738.1:p.Gly40Arg | |
| NM_001462.3:c.118G>A (FPR2) | NP_001453.1:p.Gly40Arg | |
| XM_006723120.2:c.118G>A (FPR2) | XP_006723183.1:p.Gly40Arg | |
| XM_006723120.3:c.118G>A (FPR2) | XP_006723183.1:p.Gly40Arg | |
| NM_001005738.2:c.118G>A (FPR2) MANE Select | NP_001005738.1:p.Gly40Arg |