Linked Data
ClinVar Variation Id:
2277243
ClinVar RCV Id:
RCV002844082
dbSNP Id:
rs1358336887
gnomAD v2:
12-9242527-C-A
gnomAD v4:
12-9089931-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9089931C>A , CM000674.2:g.9089931C>A | GRCh38 |
| NC_000012.11:g.9242527C>A , CM000674.1:g.9242527C>A | GRCh37 |
| NC_000012.10:g.9133794C>A | NCBI36 |
| NG_011717.1:g.31032G>T | |
| NG_011717.2:g.31032G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318602.12:c.2689G>T (A2M) MANE Select | ENSP00000323929.8:p.Asp897Tyr | |
| ENST00000318602.11:c.2689G>T (A2M) | ENSP00000323929.7:p.Asp897Tyr | |
| ENST00000462568.1:n.268G>T (A2M) | ||
| ENST00000543436.2:n.432G>T (A2M) | ||
| ENST00000545828.1:n.348+11619G>T (A2M) | ||
| NM_000014.4:c.2689G>T (A2M) | NP_000005.2:p.Asp897Tyr | |
| XM_006719056.2:c.2689G>T (A2M) | XP_006719119.1:p.Asp897Tyr | |
| NM_000014.5:c.2689G>T (A2M) | NP_000005.2:p.Asp897Tyr | |
| NM_001347423.1:c.2689G>T (A2M) | NP_001334352.1:p.Asp897Tyr | |
| NM_001347424.1:c.2389G>T (A2M) | NP_001334353.1:p.Asp797Tyr | |
| NM_001347425.1:c.2239G>T (A2M) | NP_001334354.1:p.Asp747Tyr | |
| XM_006719056.3:c.2689G>T (A2M) | XP_006719119.1:p.Asp897Tyr | |
| XM_017018683.1:c.*33+31765C>A (KLRG1) | XP_016874172.1:n.*33+31765C>A | |
| XM_017018684.1:c.*33+31765C>A (KLRG1) | XP_016874173.1:n.*33+31765C>A | |
| XM_017018685.1:c.*33+31765C>A (KLRG1) | XP_016874174.1:n.*33+31765C>A | |
| NM_000014.6:c.2689G>T (A2M) MANE Select | NP_000005.3:p.Asp897Tyr | |
| NM_001347423.2:c.2689G>T (A2M) | NP_001334352.2:p.Asp897Tyr | |
| NM_001347424.2:c.2389G>T (A2M) | NP_001334353.2:p.Asp797Tyr | |
| NM_001347425.2:c.2239G>T (A2M) | NP_001334354.2:p.Asp747Tyr |