Revel Score:
ENST00000508540 (MANE Select)
0.160
ENST00000258969
0.160
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005941 (SAS)
Genomes Max Group AF
0.00003767 (NFE)
Exomes Max Group AF
0.00005396 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50465708G>A , CM000679.2:g.50465708G>A | GRCh38 |
| NC_000017.10:g.48543069G>A , CM000679.1:g.48543069G>A | GRCh37 |
| NC_000017.9:g.45898068G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300441.9:c.1215+1414G>A (ACSF2) MANE Select | ENSP00000300441.4:n.1215+1414G>A | |
| ENST00000508540.6:c.937C>T (CHAD) MANE Select | ENSP00000423812.1:p.Arg313Trp | |
| ENST00000258969.4:c.937C>T (CHAD) | ENSP00000258969.4:p.Arg313Trp | |
| ENST00000300441.8:c.1215+1414G>A (ACSF2) | ENSP00000300441.4:n.1215+1414G>A | |
| ENST00000427954.6:c.1290+1414G>A (ACSF2) | ENSP00000401831.2:n.1290+1414G>A | |
| ENST00000502667.5:c.1176+1414G>A (ACSF2) | ENSP00000421884.1:n.1176+1414G>A | |
| ENST00000504392.5:c.1086+1414G>A (ACSF2) | ENSP00000425964.1:n.1086+1414G>A | |
| ENST00000507769.1:n.222+1109G>A (ACSF2) | ||
| ENST00000508245.5:c.224+1109G>A (ACSF2) | ENSP00000422546.1:n.224+1109G>A | |
| ENST00000508540.5:c.937C>T (CHAD) | ENSP00000423812.1:p.Arg313Trp | |
| ENST00000509806.1:n.56+1109G>A (ACSF2) | ||
| ENST00000510262.1:c.280+1109G>A (ACSF2) | ||
| ENST00000510410.5:c.*752+1414G>A (ACSF2) | ENSP00000425332.1:n.*752+1414G>A | |
| ENST00000513101.1:n.403+1414G>A (ACSF2) | ||
| NM_001267.2:c.937C>T (CHAD) | NP_001258.2:p.Arg313Trp | |
| NM_001288968.1:c.1290+1414G>A (ACSF2) | NP_001275897.1:n.1290+1414G>A | |
| NM_001288969.1:c.1176+1414G>A (ACSF2) | NP_001275898.1:n.1176+1414G>A | |
| NM_001288970.1:c.1086+1414G>A (ACSF2) | NP_001275899.1:n.1086+1414G>A | |
| NM_001288971.1:c.735+1414G>A (ACSF2) | NP_001275900.1:n.735+1414G>A | |
| NM_001288972.1:c.735+1414G>A (ACSF2) | NP_001275901.1:n.735+1414G>A | |
| NM_025149.5:c.1215+1414G>A (ACSF2) | NP_079425.3:n.1215+1414G>A | |
| XM_006722110.2:c.1215+1414G>A (ACSF2) | XP_006722173.1:n.1215+1414G>A | |
| XM_011524214.1:c.1180C>T (CHAD) | XP_011522516.1:p.Arg394Trp | |
| XM_011525294.1:c.1197+1109G>A (ACSF2) | XP_011523596.1:n.1197+1109G>A | |
| XR_429924.2:n.1333+1109G>A (ACSF2) | ||
| XR_934563.1:n.1333+1109G>A (ACSF2) | ||
| XR_934564.1:n.1467+1109G>A (ACSF2) | ||
| XR_934565.1:n.1167+1414G>A (ACSF2) | ||
| XR_934566.1:n.1167+1414G>A (ACSF2) | ||
| XR_934567.1:n.1375+1109G>A (ACSF2) | ||
| XM_006722110.4:c.1215+1414G>A (ACSF2) | XP_006722173.1:n.1215+1414G>A | |
| XM_011524214.2:c.1180C>T (CHAD) | XP_011522516.1:p.Arg394Trp | |
| XM_011525294.2:c.1197+1109G>A (ACSF2) | XP_011523596.1:n.1197+1109G>A | |
| XR_429924.3:n.1301+1109G>A (ACSF2) | ||
| XR_934563.3:n.1301+1109G>A (ACSF2) | ||
| XR_934564.2:n.1435+1109G>A (ACSF2) | ||
| XR_934565.2:n.1135+1414G>A (ACSF2) | ||
| XR_934566.3:n.1135+1414G>A (ACSF2) | ||
| XR_934567.2:n.1343+1109G>A (ACSF2) | ||
| NM_001267.3:c.937C>T (CHAD) MANE Select | NP_001258.2:p.Arg313Trp | |
| NM_001288968.2:c.1290+1414G>A (ACSF2) | NP_001275897.1:n.1290+1414G>A | |
| NM_001288969.2:c.1176+1414G>A (ACSF2) | NP_001275898.1:n.1176+1414G>A | |
| NM_001288970.2:c.1086+1414G>A (ACSF2) | NP_001275899.1:n.1086+1414G>A | |
| NM_001288971.2:c.735+1414G>A (ACSF2) | NP_001275900.1:n.735+1414G>A | |
| NM_001288972.2:c.735+1414G>A (ACSF2) | NP_001275901.1:n.735+1414G>A | |
| NM_025149.6:c.1215+1414G>A (ACSF2) MANE Select | NP_079425.3:n.1215+1414G>A |