Revel Score:
ENST00000256997
0.073
ENST00000529444
0.073
ENST00000527256
0.073
ENST00000540414
0.073
ENST00000529663
0.073
ENST00000530453
0.073
ENST00000444355
0.073
ENST00000529788
0.073
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47248704C>G , CM000673.2:g.47248704C>G | GRCh38 |
| NC_000011.9:g.47270255C>G , CM000673.1:g.47270255C>G | GRCh37 |
| NC_000011.8:g.47226831C>G | NCBI36 |
| NG_023296.1:g.5203G>C | |
| NG_030392.1:g.5405C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256997.9:c.86G>C (ACP2) | ENSP00000256997.3:p.Arg29Pro | |
| ENST00000527256.7:c.86G>C (ACP2) | ENSP00000432205.1:p.Arg29Pro | |
| ENST00000529444.7:c.86G>C (ACP2) | ENSP00000436658.1:p.Arg29Pro | |
| ENST00000672073.1:c.86G>C (ACP2) MANE Select | ENSP00000500291.1:p.Arg29Pro | |
| ENST00000672075.1:c.86G>C (ACP2) | ENSP00000500836.1:p.Arg29Pro | |
| ENST00000672166.1:n.113G>C (ACP2) | ||
| ENST00000672636.2:c.86G>C (ACP2) | ENSP00000500571.2:p.Arg29Pro | |
| ENST00000672787.1:c.86G>C (ACP2) | ENSP00000500408.1:p.Arg29Pro | |
| ENST00000673184.1:n.113G>C (ACP2) | ||
| ENST00000673511.1:c.86G>C (ACP2) | ENSP00000500010.1:p.Arg29Pro | |
| ENST00000673562.1:n.111G>C (ACP2) | ||
| ENST00000673604.1:c.86G>C (ACP2) | ENSP00000500179.1:p.Arg29Pro | |
| ENST00000256997.7:c.86G>C (ACP2) | ENSP00000256997.3:p.Arg29Pro | |
| ENST00000444355.5:n.113G>C (ACP2) | ||
| ENST00000495866.5:n.122C>G (NR1H3) | ||
| ENST00000527256.5:c.86G>C (ACP2) | ENSP00000432205.1:p.Arg29Pro | |
| ENST00000527464.5:n.122C>G (NR1H3) | ||
| ENST00000529444.5:c.86G>C (ACP2) | ENSP00000436658.1:p.Arg29Pro | |
| ENST00000529540.5:n.70C>G (NR1H3) | ||
| ENST00000529663.5:c.86G>C (ACP2) | ENSP00000436487.1:p.Arg29Pro | |
| ENST00000529788.2:n.111G>C (ACP2) | ||
| ENST00000530453.4:c.86G>C (ACP2) | ENSP00000434205.1:p.Arg29Pro | |
| ENST00000531004.5:c.86G>C (ACP2) | ENSP00000435261.1:p.Arg29Pro | |
| ENST00000531547.5:c.86G>C (ACP2) | ENSP00000432466.1:p.Arg29Pro | |
| ENST00000534448.5:n.113G>C (ACP2) | ||
| ENST00000616973.4:c.-100C>G (NR1H3) | ENSP00000477707.1:n.-100C>G | |
| NM_001251934.1:c.-100C>G (NR1H3) | NP_001238863.1:n.-100C>G | |
| NM_001251935.1:c.-100C>G (NR1H3) | NP_001238864.1:n.-100C>G | |
| NM_001302490.1:c.86G>C (ACP2) | NP_001289419.1:p.Arg29Pro | |
| NM_001302491.1:c.86G>C (ACP2) | NP_001289420.1:p.Arg29Pro | |
| NM_001302492.1:c.-405G>C (ACP2) | NP_001289421.1:n.-405G>C | |
| NM_001610.3:c.86G>C (ACP2) | NP_001601.1:p.Arg29Pro | |
| XR_242812.2:n.116G>C (ACP2) | ||
| NM_001357016.1:c.86G>C (ACP2) | NP_001343945.1:p.Arg29Pro | |
| XR_001747908.2:n.111G>C (ACP2) | ||
| NM_001610.4:c.86G>C (ACP2) MANE Select | NP_001601.1:p.Arg29Pro | |
| NM_001251934.2:c.-100C>G (NR1H3) | NP_001238863.1:n.-100C>G | |
| NM_001251935.2:c.-100C>G (NR1H3) | NP_001238864.1:n.-100C>G | |
| NM_001302490.2:c.86G>C (ACP2) | NP_001289419.1:p.Arg29Pro | |
| NM_001302491.2:c.86G>C (ACP2) | NP_001289420.1:p.Arg29Pro | |
| NM_001302492.2:c.-405G>C (ACP2) | NP_001289421.1:n.-405G>C | |
| NM_001357016.2:c.86G>C (ACP2) | NP_001343945.1:p.Arg29Pro |