COSMIC:
COSM1162823 (not active)
Revel Score:
ENST00000308919 (MANE Select)
0.305
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33354642 (EAS)
Genomes Max Group AF
0.29086655 (EAS)
Exomes Max Group AF
0.33781613 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.988812C>T , CM000669.2:g.988812C>T | GRCh38 |
| NC_000007.13:g.1028448C>T , CM000669.1:g.1028448C>T | GRCh37 |
| NC_000007.12:g.994974C>T | NCBI36 |
| NG_007934.1:g.10614C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308919.12:c.1463C>T (CYP2W1) MANE Select | ENSP00000310149.7:p.Pro488Leu | |
| ENST00000308919.11:c.1463C>T (CYP2W1) | ENSP00000310149.7:p.Pro488Leu | |
| ENST00000340150.10:c.*284C>T (CYP2W1) | ENSP00000344178.6:n.*284C>T | |
| NM_017781.2:c.1463C>T (CYP2W1) | NP_060251.2:p.Pro488Leu | |
| XM_005249889.3:c.522+8834G>A (C7orf50) | XP_005249946.2:n.522+8834G>A | |
| XM_011515440.1:c.1358+105C>T (CYP2W1) | XP_011513742.1:n.1358+105C>T | |
| XM_011515441.1:c.1358+105C>T (CYP2W1) | XP_011513743.1:n.1358+105C>T | |
| XM_011515580.1:c.1107+8834G>A (C7orf50) | XP_011513882.1:n.1107+8834G>A | |
| XM_011515581.1:c.564+8834G>A (C7orf50) | XP_011513883.1:n.564+8834G>A | |
| XM_011515582.1:c.564+8834G>A (C7orf50) | XP_011513884.1:n.564+8834G>A | |
| XM_011515583.1:c.564+8834G>A (C7orf50) | XP_011513885.1:n.564+8834G>A | |
| XM_011515584.1:c.564+8834G>A (C7orf50) | XP_011513886.1:n.564+8834G>A | |
| NR_156697.1:n.547+8834G>A (C7orf50) | ||
| XM_011515440.3:c.1358+105C>T (CYP2W1) | XP_011513742.1:n.1358+105C>T | |
| XM_011515441.3:c.1358+105C>T (CYP2W1) | XP_011513743.1:n.1358+105C>T | |
| XM_011515581.3:c.564+8834G>A (C7orf50) | XP_011513883.1:n.564+8834G>A | |
| XM_011515582.3:c.564+8834G>A (C7orf50) | XP_011513884.1:n.564+8834G>A | |
| XM_011515583.2:c.564+8834G>A (C7orf50) | XP_011513885.1:n.564+8834G>A | |
| XM_011515584.2:c.564+8834G>A (C7orf50) | XP_011513886.1:n.564+8834G>A | |
| XM_017012719.1:c.1108-3378G>A (C7orf50) | XP_016868208.1:n.1108-3378G>A | |
| XM_017012720.2:c.564+8834G>A (C7orf50) | XP_016868209.1:n.564+8834G>A | |
| XM_017012721.2:c.522+8834G>A (C7orf50) | XP_016868210.1:n.522+8834G>A | |
| NM_017781.3:c.1463C>T (CYP2W1) MANE Select | NP_060251.2:p.Pro488Leu | |
| NR_156697.2:n.547+8834G>A (C7orf50) |