Linked Data
ClinVar Variation Id:
288179
dbSNP Id:
rs770015462
ExAC:
9:119460351 A / G
gnomAD v2:
9-119460351-A-G
gnomAD v3:
9-116698072-A-G
gnomAD v4:
9-116698072-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116698072A>G , CM000671.2:g.116698072A>G | GRCh38 |
| NC_000009.11:g.119460351A>G , CM000671.1:g.119460351A>G | GRCh37 |
| NC_000009.10:g.118500172A>G | NCBI36 |
| NG_011619.1:g.15771A>G , LRG_211:g.15771A>G | |
| NG_021409.1:g.721967T>C | |
| NG_021409.2:g.721986T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313400.9:c.2806+27699T>C (ASTN2) MANE Select | ENSP00000314038.4:n.2806+27699T>C | |
| ENST00000361477.8:c.2653+27699T>C (ASTN2) | ENSP00000355116.5:n.2653+27699T>C | |
| ENST00000450136.2:c.330A>G (TRIM32) MANE Select | ENSP00000408292.1:p.Gln110= | |
| ENST00000313400.8:c.2806+27699T>C (ASTN2) | ENSP00000314038.4:n.2806+27699T>C | |
| ENST00000361209.6:c.2653+27699T>C (ASTN2) | ENSP00000354504.2:n.2653+27699T>C | |
| ENST00000361477.7:c.-39+27699T>C (ASTN2) | ENSP00000355116.4:n.-39+27699T>C | |
| ENST00000373983.2:c.330A>G (TRIM32) | ENSP00000363095.1:p.Gln110= | |
| ENST00000373986.7:c.1975+27699T>C (ASTN2) | ENSP00000363098.3:n.1975+27699T>C | |
| ENST00000411410.1:c.330A>G (TRIM32) | ENSP00000412603.1:p.Gln110= | |
| ENST00000450136.1:c.330A>G (TRIM32) | ENSP00000408292.1:p.Gln110= | |
| NM_001099679.1:c.330A>G (TRIM32) | NP_001093149.1:p.Gln110= | |
| NM_012210.3:c.330A>G , LRG_211t1:c.330A>G (TRIM32) | NP_036342.2:p.Gln110= | |
| NM_014010.4:c.2653+27699T>C (ASTN2) | NP_054729.3:n.2653+27699T>C | |
| XM_005251813.2:c.330A>G (TRIM32) | XP_005251870.1:p.Gln110= | |
| XM_011518396.1:c.330A>G (TRIM32) | XP_011516698.1:p.Gln110= | |
| XM_011518397.1:c.330A>G (TRIM32) | XP_011516699.1:p.Gln110= | |
| XM_011518398.1:c.330A>G (TRIM32) | XP_011516700.1:p.Gln110= | |
| NM_001365068.1:c.2806+27699T>C (ASTN2) MANE Select | NP_001351997.1:n.2806+27699T>C | |
| NM_001365069.1:c.2794+27699T>C (ASTN2) | NP_001351998.1:n.2794+27699T>C | |
| XM_005251813.4:c.330A>G (TRIM32) | XP_005251870.1:p.Gln110= | |
| XM_011518398.2:c.330A>G (TRIM32) | XP_011516700.1:p.Gln110= | |
| XM_017014486.1:c.330A>G (TRIM32) | XP_016869975.1:p.Gln110= | |
| NM_001099679.2:c.330A>G (TRIM32) | NP_001093149.1:p.Gln110= | |
| NM_014010.5:c.2653+27699T>C (ASTN2) | NP_054729.3:n.2653+27699T>C | |
| NM_001379048.1:c.330A>G (TRIM32) | NP_001365977.1:p.Gln110= | |
| NM_001379049.1:c.330A>G (TRIM32) | NP_001365978.1:p.Gln110= | |
| NM_001379050.1:c.330A>G (TRIM32) | NP_001365979.1:p.Gln110= | |
| NM_012210.4:c.330A>G (TRIM32) MANE Select | NP_036342.2:p.Gln110= |