Linked Data
ClinVar Variation Id:
2514869
ClinVar RCV Id:
RCV004291448
dbSNP Id:
rs374437029
ExAC:
12:9251319 G / C
gnomAD v2:
12-9251319-G-C
gnomAD v3:
12-9098723-G-C
gnomAD v4:
12-9098723-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9098723G>C , CM000674.2:g.9098723G>C | GRCh38 |
| NC_000012.11:g.9251319G>C , CM000674.1:g.9251319G>C | GRCh37 |
| NC_000012.10:g.9142586G>C | NCBI36 |
| NG_011717.1:g.22240C>G | |
| NG_011717.2:g.22240C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.1735C>G (A2M) MANE Select | ENSP00000323929.8:p.Pro579Ala | |
| ENST00000318602.11:c.1735C>G (A2M) | ENSP00000323929.7:p.Pro579Ala | |
| ENST00000472360.1:n.351C>G (A2M) | ||
| ENST00000545828.1:n.348+2827C>G (A2M) | ||
| ENST00000546069.1:c.170+743C>G (A2M) | ENSP00000438599.1:n.170+743C>G | |
| NM_000014.4:c.1735C>G (A2M) | NP_000005.2:p.Pro579Ala | |
| XM_006719056.2:c.1735C>G (A2M) | XP_006719119.1:p.Pro579Ala | |
| NM_000014.5:c.1735C>G (A2M) | NP_000005.2:p.Pro579Ala | |
| NM_001347423.1:c.1735C>G (A2M) | NP_001334352.1:p.Pro579Ala | |
| NM_001347424.1:c.1435C>G (A2M) | NP_001334353.1:p.Pro479Ala | |
| NM_001347425.1:c.1285C>G (A2M) | NP_001334354.1:p.Pro429Ala | |
| XM_006719056.3:c.1735C>G (A2M) | XP_006719119.1:p.Pro579Ala | |
| XM_017018683.1:c.*34-26651G>C (KLRG1) | XP_016874172.1:n.*34-26651G>C | |
| XM_017018684.1:c.*34-36363G>C (KLRG1) | XP_016874173.1:n.*34-36363G>C | |
| XM_017018685.1:c.*33+40557G>C (KLRG1) | XP_016874174.1:n.*33+40557G>C | |
| NM_000014.6:c.1735C>G (A2M) MANE Select | NP_000005.3:p.Pro579Ala | |
| NM_001347423.2:c.1735C>G (A2M) | NP_001334352.2:p.Pro579Ala | |
| NM_001347424.2:c.1435C>G (A2M) | NP_001334353.2:p.Pro479Ala | |
| NM_001347425.2:c.1285C>G (A2M) | NP_001334354.2:p.Pro429Ala |