Revel Score:
ENST00000332884 (MANE Select)
0.134
ENST00000424249
0.134
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00240964 (AMR)
Genomes Max Group AF
0.00169055 (AMR)
Exomes Max Group AF
0.00253521 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107931951C>T , CM000666.2:g.107931951C>T | GRCh38 |
| NC_000004.11:g.108853107C>T , CM000666.1:g.108853107C>T | GRCh37 |
| NC_000004.10:g.109072556C>T | NCBI36 |
| NG_007961.1:g.5391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332884.11:c.308C>T (CYP2U1) MANE Select | ENSP00000333212.6:p.Pro103Leu | |
| ENST00000332884.10:c.308C>T (CYP2U1) | ENSP00000333212.6:p.Pro103Leu | |
| ENST00000508453.1:c.-518C>T (CYP2U1) | ENSP00000423667.1:n.-518C>T | |
| ENST00000513302.1:n.367C>T (CYP2U1) | ||
| NM_183075.2:c.308C>T (CYP2U1) | NP_898898.1:p.Pro103Leu | |
| NR_125929.1:n.149+20G>A (CYP2U1-AS1) | ||
| XM_005262717.2:c.308C>T (CYP2U1) | XP_005262774.1:p.Pro103Leu | |
| XM_005262720.2:c.308C>T (CYP2U1) | XP_005262777.1:p.Pro103Leu | |
| XR_001741783.1:n.156-21402G>A | ||
| XR_001741784.1:n.531-21402G>A | ||
| NM_183075.3:c.308C>T (CYP2U1) MANE Select | NP_898898.1:p.Pro103Leu |