Linked Data
ClinVar Variation Id:
3143593
ClinVar RCV Id:
RCV004436399
dbSNP Id:
rs369403894
ExAC:
12:9243980 G / C
gnomAD v2:
12-9243980-G-C
gnomAD v3:
12-9091384-G-C
gnomAD v4:
12-9091384-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9091384G>C , CM000674.2:g.9091384G>C | GRCh38 |
| NC_000012.11:g.9243980G>C , CM000674.1:g.9243980G>C | GRCh37 |
| NC_000012.10:g.9135247G>C | NCBI36 |
| NG_011717.1:g.29579C>G | |
| NG_011717.2:g.29579C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.2286C>G (A2M) MANE Select | ENSP00000323929.8:p.Ile762Met | |
| ENST00000318602.11:c.2286C>G (A2M) | ENSP00000323929.7:p.Ile762Met | |
| ENST00000543436.2:n.29C>G (A2M) | ||
| ENST00000545828.1:n.348+10166C>G (A2M) | ||
| NM_000014.4:c.2286C>G (A2M) | NP_000005.2:p.Ile762Met | |
| XM_006719056.2:c.2286C>G (A2M) | XP_006719119.1:p.Ile762Met | |
| NM_000014.5:c.2286C>G (A2M) | NP_000005.2:p.Ile762Met | |
| NM_001347423.1:c.2286C>G (A2M) | NP_001334352.1:p.Ile762Met | |
| NM_001347424.1:c.1986C>G (A2M) | NP_001334353.1:p.Ile662Met | |
| NM_001347425.1:c.1836C>G (A2M) | NP_001334354.1:p.Ile612Met | |
| XM_006719056.3:c.2286C>G (A2M) | XP_006719119.1:p.Ile762Met | |
| XM_017018683.1:c.*33+33218G>C (KLRG1) | XP_016874172.1:n.*33+33218G>C | |
| XM_017018684.1:c.*33+33218G>C (KLRG1) | XP_016874173.1:n.*33+33218G>C | |
| XM_017018685.1:c.*33+33218G>C (KLRG1) | XP_016874174.1:n.*33+33218G>C | |
| NM_000014.6:c.2286C>G (A2M) MANE Select | NP_000005.3:p.Ile762Met | |
| NM_001347423.2:c.2286C>G (A2M) | NP_001334352.2:p.Ile762Met | |
| NM_001347424.2:c.1986C>G (A2M) | NP_001334353.2:p.Ile662Met | |
| NM_001347425.2:c.1836C>G (A2M) | NP_001334354.2:p.Ile612Met |