Linked Data
dbSNP Id:
rs371155775
ExAC:
6:149721701 C / G
gnomAD v2:
6-149721701-C-G
gnomAD v3:
6-149400565-C-G
gnomAD v4:
6-149400565-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149400565C>G , CM000668.2:g.149400565C>G | GRCh38 |
| NC_000006.11:g.149721701C>G , CM000668.1:g.149721701C>G | GRCh37 |
| NC_000006.10:g.149763394C>G | NCBI36 |
| NG_012301.1:g.5207C>G | |
| NG_021386.1:g.87266C>G | |
| NG_021386.2:g.187642C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326669.6:c.174C>G (SUMO4) MANE Select | ENSP00000318635.4:p.Ile58Met | |
| ENST00000636456.1:c.1087+1381C>G (TAB2) | ENSP00000490379.1:n.1087+1381C>G | |
| ENST00000637181.2:c.1939+1381C>G (TAB2) MANE Select | ENSP00000490618.1:n.1939+1381C>G | |
| ENST00000326669.5:c.174C>G (SUMO4) | ENSP00000318635.4:p.Ile58Met | |
| ENST00000367456.5:c.1939+1381C>G (TAB2) | ENSP00000356426.1:n.1939+1381C>G | |
| ENST00000470466.5:c.*538+1381C>G (TAB2) | ENSP00000432709.1:n.*538+1381C>G | |
| ENST00000484505.1:n.452+1381C>G (TAB2) | ||
| ENST00000538427.5:c.1939+1381C>G (TAB2) | ENSP00000445752.1:n.1939+1381C>G | |
| NM_001002255.1:c.174C>G (SUMO4) | NP_001002255.1:p.Ile58Met | |
| NM_001292034.2:c.1939+1381C>G (TAB2) | NP_001278963.1:n.1939+1381C>G | |
| NM_001292035.2:c.1843+1381C>G (TAB2) | NP_001278964.1:n.1843+1381C>G | |
| NM_015093.5:c.1939+1381C>G (TAB2) | NP_055908.1:n.1939+1381C>G | |
| XM_006715403.2:c.1939+1381C>G (TAB2) | XP_006715466.1:n.1939+1381C>G | |
| XM_011535633.1:c.1939+1381C>G (TAB2) | XP_011533935.1:n.1939+1381C>G | |
| XM_011535634.1:c.1939+1381C>G (TAB2) | XP_011533936.1:n.1939+1381C>G | |
| XM_011535633.2:c.1939+1381C>G (TAB2) | XP_011533935.1:n.1939+1381C>G | |
| XM_017010591.1:c.1939+1381C>G (TAB2) | XP_016866080.1:n.1939+1381C>G | |
| XM_017010592.2:c.1939+1381C>G (TAB2) | XP_016866081.1:n.1939+1381C>G | |
| NM_001292034.3:c.1939+1381C>G (TAB2) MANE Select | NP_001278963.1:n.1939+1381C>G | |
| NM_001002255.2:c.174C>G (SUMO4) MANE Select | NP_001002255.1:p.Ile58Met | |
| NM_001292035.3:c.1843+1381C>G (TAB2) | NP_001278964.1:n.1843+1381C>G | |
| NM_001369506.1:c.1939+1381C>G (TAB2) | NP_001356435.1:n.1939+1381C>G | |
| NM_015093.6:c.1939+1381C>G (TAB2) | NP_055908.1:n.1939+1381C>G |