Revel Score:
ENST00000540099
0.017
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76087679 (AFR)
Genomes Max Group AF
0.75690627 (AFR)
Exomes Max Group AF
0.76098028 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9115877A>C , CM000674.2:g.9115877A>C | GRCh38 |
| NC_000012.11:g.9268473A>C , CM000674.1:g.9268473A>C | GRCh37 |
| NC_000012.10:g.9159740A>C | NCBI36 |
| NG_011717.1:g.5086T>G | |
| NG_011717.2:g.5086T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.-28T>G (A2M) MANE Select | ENSP00000323929.8:n.-28T>G | |
| ENST00000318602.11:c.-28T>G (A2M) | ENSP00000323929.7:n.-28T>G | |
| ENST00000404455.2:c.-17-11T>G (A2M) | ENSP00000385710.2:n.-17-11T>G | |
| ENST00000467091.1:n.185T>G (A2M) | ||
| ENST00000497324.1:n.141T>G (A2M) | ||
| NM_000014.4:c.-28T>G (A2M) | NP_000005.2:n.-28T>G | |
| XM_006719056.2:c.-28T>G (A2M) | XP_006719119.1:n.-28T>G | |
| NM_000014.5:c.-28T>G (A2M) | NP_000005.2:n.-28T>G | |
| NM_001347423.1:c.-17-11T>G (A2M) | NP_001334352.1:n.-17-11T>G | |
| NM_001347424.1:c.-481T>G (A2M) | NP_001334353.1:n.-481T>G | |
| NM_001347425.1:c.-318T>G (A2M) | NP_001334354.1:n.-318T>G | |
| XM_006719056.3:c.-28T>G (A2M) | XP_006719119.1:n.-28T>G | |
| XM_017018683.1:c.*34-9497A>C (KLRG1) | XP_016874172.1:n.*34-9497A>C | |
| XM_017018684.1:c.*34-19209A>C (KLRG1) | XP_016874173.1:n.*34-19209A>C | |
| XM_017018685.1:c.*33+57711A>C (KLRG1) | XP_016874174.1:n.*33+57711A>C | |
| NM_000014.6:c.-28T>G (A2M) MANE Select | NP_000005.3:n.-28T>G | |
| NM_001347423.2:c.-17-11T>G (A2M) | NP_001334352.2:n.-17-11T>G | |
| NM_001347424.2:c.-481T>G (A2M) | NP_001334353.2:n.-481T>G | |
| NM_001347425.2:c.-318T>G (A2M) | NP_001334354.2:n.-318T>G |