Revel Score:
ENST00000508540 (MANE Select)
0.277
ENST00000258969
0.277
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005438 (AMR)
Genomes Max Group AF
0.00002257 (AMR)
Exomes Max Group AF
0.00004364 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50468222C>T , CM000679.2:g.50468222C>T | GRCh38 |
| NC_000017.10:g.48545583C>T , CM000679.1:g.48545583C>T | GRCh37 |
| NC_000017.9:g.45900582C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300441.9:c.1216-2806C>T (ACSF2) MANE Select | ENSP00000300441.4:n.1216-2806C>T | |
| ENST00000508540.6:c.592G>A (CHAD) MANE Select | ENSP00000423812.1:p.Ala198Thr | |
| ENST00000258969.4:c.592G>A (CHAD) | ENSP00000258969.4:p.Ala198Thr | |
| ENST00000300441.8:c.1216-2806C>T (ACSF2) | ENSP00000300441.4:n.1216-2806C>T | |
| ENST00000427954.6:c.1291-2806C>T (ACSF2) | ENSP00000401831.2:n.1291-2806C>T | |
| ENST00000502667.5:c.1177-2806C>T (ACSF2) | ENSP00000421884.1:n.1177-2806C>T | |
| ENST00000504392.5:c.1087-2806C>T (ACSF2) | ENSP00000425964.1:n.1087-2806C>T | |
| ENST00000507769.1:n.223-2806C>T (ACSF2) | ||
| ENST00000508245.5:c.225-2806C>T (ACSF2) | ENSP00000422546.1:n.225-2806C>T | |
| ENST00000508540.5:c.592G>A (CHAD) | ENSP00000423812.1:p.Ala198Thr | |
| ENST00000509806.1:n.57-2806C>T (ACSF2) | ||
| ENST00000510262.1:c.281-2806C>T (ACSF2) | ||
| ENST00000510410.5:c.*753-2806C>T (ACSF2) | ENSP00000425332.1:n.*753-2806C>T | |
| ENST00000513101.1:n.404-2806C>T (ACSF2) | ||
| ENST00000513544.5:n.239+144C>T (ACSF2) | ||
| NM_001267.2:c.592G>A (CHAD) | NP_001258.2:p.Ala198Thr | |
| NM_001288968.1:c.1291-2806C>T (ACSF2) | NP_001275897.1:n.1291-2806C>T | |
| NM_001288969.1:c.1177-2806C>T (ACSF2) | NP_001275898.1:n.1177-2806C>T | |
| NM_001288970.1:c.1087-2806C>T (ACSF2) | NP_001275899.1:n.1087-2806C>T | |
| NM_001288971.1:c.736-2806C>T (ACSF2) | NP_001275900.1:n.736-2806C>T | |
| NM_001288972.1:c.736-2806C>T (ACSF2) | NP_001275901.1:n.736-2806C>T | |
| NM_025149.5:c.1216-2806C>T (ACSF2) | NP_079425.3:n.1216-2806C>T | |
| XM_006722110.2:c.1216-2806C>T (ACSF2) | XP_006722173.1:n.1216-2806C>T | |
| XM_011524214.1:c.835G>A (CHAD) | XP_011522516.1:p.Ala279Thr | |
| XM_011525294.1:c.1198-2806C>T (ACSF2) | XP_011523596.1:n.1198-2806C>T | |
| XR_429924.2:n.1334-2806C>T (ACSF2) | ||
| XR_934563.1:n.1334-2806C>T (ACSF2) | ||
| XR_934564.1:n.1468-2806C>T (ACSF2) | ||
| XR_934565.1:n.1168-2806C>T (ACSF2) | ||
| XR_934566.1:n.1168-2806C>T (ACSF2) | ||
| XR_934567.1:n.1376-2806C>T (ACSF2) | ||
| XM_006722110.4:c.1216-2806C>T (ACSF2) | XP_006722173.1:n.1216-2806C>T | |
| XM_011524214.2:c.835G>A (CHAD) | XP_011522516.1:p.Ala279Thr | |
| XM_011525294.2:c.1198-2806C>T (ACSF2) | XP_011523596.1:n.1198-2806C>T | |
| XR_429924.3:n.1302-2806C>T (ACSF2) | ||
| XR_934563.3:n.1302-2806C>T (ACSF2) | ||
| XR_934564.2:n.1436-2806C>T (ACSF2) | ||
| XR_934565.2:n.1136-2806C>T (ACSF2) | ||
| XR_934566.3:n.1136-2806C>T (ACSF2) | ||
| XR_934567.2:n.1344-2806C>T (ACSF2) | ||
| NM_001267.3:c.592G>A (CHAD) MANE Select | NP_001258.2:p.Ala198Thr | |
| NM_001288968.2:c.1291-2806C>T (ACSF2) | NP_001275897.1:n.1291-2806C>T | |
| NM_001288969.2:c.1177-2806C>T (ACSF2) | NP_001275898.1:n.1177-2806C>T | |
| NM_001288970.2:c.1087-2806C>T (ACSF2) | NP_001275899.1:n.1087-2806C>T | |
| NM_001288971.2:c.736-2806C>T (ACSF2) | NP_001275900.1:n.736-2806C>T | |
| NM_001288972.2:c.736-2806C>T (ACSF2) | NP_001275901.1:n.736-2806C>T | |
| NM_025149.6:c.1216-2806C>T (ACSF2) MANE Select | NP_079425.3:n.1216-2806C>T |