Revel Score:
ENST00000297283 (MANE Select)
0.752
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Exomes Max Group AF
0.00001093 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44065262G>A , CM000669.2:g.44065262G>A | GRCh38 |
| NC_000007.13:g.44104861G>A , CM000669.1:g.44104861G>A | GRCh37 |
| NC_000007.12:g.44071386G>A | NCBI36 |
| NG_013016.1:g.5326C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297283.4:c.268C>T (PGAM2) MANE Select | ENSP00000297283.3:p.Arg90Trp | |
| ENST00000448521.6:c.*4346G>A (DBNL) MANE Select | ENSP00000411701.1:n.*4346G>A | |
| ENST00000297283.3:c.268C>T (PGAM2) | ENSP00000297283.3:p.Arg90Trp | |
| ENST00000432854.5:c.5424G>A (DBNL) | ||
| NM_000290.3:c.268C>T (PGAM2) | NP_000281.2:p.Arg90Trp | |
| XM_011515426.1:c.268C>T (PGAM2) | XP_011513728.1:p.Arg90Trp | |
| NM_000290.4:c.268C>T (PGAM2) MANE Select | NP_000281.2:p.Arg90Trp | |
| NM_001014436.3:c.*4346G>A (DBNL) MANE Select | NP_001014436.1:n.*4346G>A | |
| NM_001122956.2:c.*4346G>A (DBNL) | NP_001116428.1:n.*4346G>A | |
| NM_001284313.2:c.*4346G>A (DBNL) | NP_001271242.1:n.*4346G>A | |
| NM_001362723.2:c.*4346G>A (DBNL) | NP_001349652.1:n.*4346G>A | |
| NM_014063.7:c.*4346G>A (DBNL) | NP_054782.2:n.*4346G>A | |
| NM_001284315.2:c.*4346G>A (DBNL) | NP_001271244.1:n.*4346G>A |