Linked Data
dbSNP Id:
rs761812812
ExAC:
12:9242622 GA / G
gnomAD v2:
12-9242622-GA-G
gnomAD v3:
12-9090026-GA-G
gnomAD v4:
12-9090026-GA-G
COSMIC:
COSM5510576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9090034del , CM000674.2:g.9090034del | GRCh38 |
| NC_000012.11:g.9242630del , CM000674.1:g.9242630del | GRCh37 |
| NC_000012.10:g.9133897del | NCBI36 |
| NG_011717.1:g.30936del | |
| NG_011717.2:g.30936del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318602.12:c.2597-4del (A2M) MANE Select | ENSP00000323929.8:n.2597-4del | |
| ENST00000318602.11:c.2597-4del (A2M) | ENSP00000323929.7:n.2597-4del | |
| ENST00000462568.1:n.176-4del (A2M) | ||
| ENST00000543436.2:n.340-4del (A2M) | ||
| ENST00000545828.1:n.348+11523del (A2M) | ||
| NM_000014.4:c.2597-4del (A2M) | NP_000005.2:n.2597-4del | |
| XM_006719056.2:c.2597-4del (A2M) | XP_006719119.1:n.2597-4del | |
| NM_000014.5:c.2597-4del (A2M) | NP_000005.2:n.2597-4del | |
| NM_001347423.1:c.2597-4del (A2M) | NP_001334352.1:n.2597-4del | |
| NM_001347424.1:c.2297-4del (A2M) | NP_001334353.1:n.2297-4del | |
| NM_001347425.1:c.2147-4del (A2M) | NP_001334354.1:n.2147-4del | |
| XM_006719056.3:c.2597-4del (A2M) | XP_006719119.1:n.2597-4del | |
| XM_017018683.1:c.*33+31868del (KLRG1) | XP_016874172.1:n.*33+31868del | |
| XM_017018684.1:c.*33+31868del (KLRG1) | XP_016874173.1:n.*33+31868del | |
| XM_017018685.1:c.*33+31868del (KLRG1) | XP_016874174.1:n.*33+31868del | |
| NM_000014.6:c.2597-4del (A2M) MANE Select | NP_000005.3:n.2597-4del | |
| NM_001347423.2:c.2597-4del (A2M) | NP_001334352.2:n.2597-4del | |
| NM_001347424.2:c.2297-4del (A2M) | NP_001334353.2:n.2297-4del | |
| NM_001347425.2:c.2147-4del (A2M) | NP_001334354.2:n.2147-4del |