Linked Data
ClinVar Variation Id:
497070
dbSNP Id:
rs750466433
ExAC:
9:119460765 G / A
gnomAD v2:
9-119460765-G-A
gnomAD v3:
9-116698486-G-A
gnomAD v4:
9-116698486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116698486G>A , CM000671.2:g.116698486G>A | GRCh38 |
| NC_000009.11:g.119460765G>A , CM000671.1:g.119460765G>A | GRCh37 |
| NC_000009.10:g.118500586G>A | NCBI36 |
| NG_011619.1:g.16185G>A , LRG_211:g.16185G>A | |
| NG_021409.1:g.721553C>T | |
| NG_021409.2:g.721572C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313400.9:c.2806+27285C>T (ASTN2) MANE Select | ENSP00000314038.4:n.2806+27285C>T | |
| ENST00000361477.8:c.2653+27285C>T (ASTN2) | ENSP00000355116.5:n.2653+27285C>T | |
| ENST00000450136.2:c.744G>A (TRIM32) MANE Select | ENSP00000408292.1:p.Gln248= | |
| ENST00000313400.8:c.2806+27285C>T (ASTN2) | ENSP00000314038.4:n.2806+27285C>T | |
| ENST00000361209.6:c.2653+27285C>T (ASTN2) | ENSP00000354504.2:n.2653+27285C>T | |
| ENST00000361477.7:c.-39+27285C>T (ASTN2) | ENSP00000355116.4:n.-39+27285C>T | |
| ENST00000373983.2:c.744G>A (TRIM32) | ENSP00000363095.1:p.Gln248= | |
| ENST00000373986.7:c.1975+27285C>T (ASTN2) | ENSP00000363098.3:n.1975+27285C>T | |
| ENST00000450136.1:c.744G>A (TRIM32) | ENSP00000408292.1:p.Gln248= | |
| NM_001099679.1:c.744G>A (TRIM32) | NP_001093149.1:p.Gln248= | |
| NM_012210.3:c.744G>A , LRG_211t1:c.744G>A (TRIM32) | NP_036342.2:p.Gln248= | |
| NM_014010.4:c.2653+27285C>T (ASTN2) | NP_054729.3:n.2653+27285C>T | |
| XM_005251813.2:c.744G>A (TRIM32) | XP_005251870.1:p.Gln248= | |
| XM_011518396.1:c.744G>A (TRIM32) | XP_011516698.1:p.Gln248= | |
| XM_011518397.1:c.744G>A (TRIM32) | XP_011516699.1:p.Gln248= | |
| XM_011518398.1:c.744G>A (TRIM32) | XP_011516700.1:p.Gln248= | |
| NM_001365068.1:c.2806+27285C>T (ASTN2) MANE Select | NP_001351997.1:n.2806+27285C>T | |
| NM_001365069.1:c.2794+27285C>T (ASTN2) | NP_001351998.1:n.2794+27285C>T | |
| XM_005251813.4:c.744G>A (TRIM32) | XP_005251870.1:p.Gln248= | |
| XM_011518398.2:c.744G>A (TRIM32) | XP_011516700.1:p.Gln248= | |
| XM_017014486.1:c.744G>A (TRIM32) | XP_016869975.1:p.Gln248= | |
| NM_001099679.2:c.744G>A (TRIM32) | NP_001093149.1:p.Gln248= | |
| NM_014010.5:c.2653+27285C>T (ASTN2) | NP_054729.3:n.2653+27285C>T | |
| NM_001379048.1:c.744G>A (TRIM32) | NP_001365977.1:p.Gln248= | |
| NM_001379049.1:c.744G>A (TRIM32) | NP_001365978.1:p.Gln248= | |
| NM_001379050.1:c.744G>A (TRIM32) | NP_001365979.1:p.Gln248= | |
| NM_012210.4:c.744G>A (TRIM32) MANE Select | NP_036342.2:p.Gln248= |