Linked Data
ClinVar Variation Id:
305173
dbSNP Id:
rs778380128
ExAC:
11:62458070 A / C
gnomAD v2:
11-62458070-A-C
gnomAD v3:
11-62690598-A-C
gnomAD v4:
11-62690598-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62690598A>C , CM000673.2:g.62690598A>C | GRCh38 |
| NC_000011.9:g.62458070A>C , CM000673.1:g.62458070A>C | GRCh37 |
| NC_000011.8:g.62214646A>C | NCBI36 |
| NG_008461.1:g.23977T>G | |
| NG_033077.1:g.4302T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1578T>G (BSCL2) | ||
| ENST00000449636.6:c.742+14T>G (BSCL2) | ENSP00000405265.2:n.742+14T>G | |
| ENST00000463679.6:n.1318+14T>G (BSCL2) | ||
| ENST00000524862.6:c.1234+14T>G (BSCL2) | ENSP00000433888.2:n.1234+14T>G | |
| ENST00000682003.1:n.1622+14T>G (BSCL2) | ||
| ENST00000682223.1:c.1224+24T>G (BSCL2) | ENSP00000508140.1:n.1224+24T>G | |
| ENST00000682262.1:c.*296+14T>G (BSCL2) | ENSP00000507103.1:n.*296+14T>G | |
| ENST00000682555.1:c.*345+14T>G (BSCL2) | ENSP00000507814.1:n.*345+14T>G | |
| ENST00000682644.1:n.1985T>G (BSCL2) | ||
| ENST00000682794.1:n.1751+14T>G (BSCL2) | ||
| ENST00000683025.1:c.*1019+14T>G (BSCL2) | ENSP00000507028.1:n.*1019+14T>G | |
| ENST00000683193.1:n.968T>G (BSCL2) | ||
| ENST00000683296.1:c.1243+14T>G (BSCL2) | ENSP00000507725.1:n.1243+14T>G | |
| ENST00000683368.1:n.1632+14T>G (BSCL2) | ||
| ENST00000683494.1:n.3114+14T>G (BSCL2) | ||
| ENST00000683846.1:n.1574+14T>G (BSCL2) | ||
| ENST00000683892.1:n.1874+14T>G (BSCL2) | ||
| ENST00000684067.1:c.1192+14T>G (BSCL2) | ENSP00000506799.1:n.1192+14T>G | |
| ENST00000684115.1:n.1815+14T>G (BSCL2) | ||
| ENST00000684258.1:n.2007+14T>G (BSCL2) | ||
| ENST00000684285.1:c.*741+14T>G (BSCL2) | ENSP00000507669.1:n.*741+14T>G | |
| ENST00000684475.1:c.1099+14T>G (BSCL2) | ENSP00000507429.1:n.1099+14T>G | |
| ENST00000684609.1:n.2079T>G (BSCL2) | ||
| ENST00000684720.1:n.2939T>G (BSCL2) | ||
| ENST00000360796.10:c.1234+14T>G (BSCL2) MANE Select | ENSP00000354032.5:n.1234+14T>G | |
| ENST00000679883.1:c.1234+14T>G (BSCL2) | ENSP00000505838.1:n.1234+14T>G | |
| ENST00000278893.11:c.*36+14T>G (BSCL2) | ENSP00000278893.7:n.*36+14T>G | |
| ENST00000301781.10:c.*345+14T>G (BSCL2) | ENSP00000301781.5:n.*345+14T>G | |
| ENST00000360796.9:c.1234+14T>G (BSCL2) | ENSP00000354032.5:n.1234+14T>G | |
| ENST00000403098.6:c.186-177T>G (BSCL2) | ENSP00000384258.2:n.186-177T>G | |
| ENST00000403550.5:c.1042+14T>G (BSCL2) | ENSP00000385561.1:n.1042+14T>G | |
| ENST00000403734.2:c.*1285+14T>G (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1285+14T>G | |
| ENST00000405837.5:c.1240+14T>G (BSCL2) | ENSP00000385332.1:n.1240+14T>G | |
| ENST00000407022.7:c.1042+14T>G (BSCL2) | ENSP00000384080.3:n.1042+14T>G | |
| ENST00000421906.5:c.1042+14T>G (BSCL2) | ENSP00000413209.1:n.1042+14T>G | |
| ENST00000449636.5:c.298+14T>G (BSCL2) | ENSP00000405265.1:n.298+14T>G | |
| ENST00000463679.5:n.637+14T>G (BSCL2) | ||
| ENST00000470529.5:n.266+14T>G (BSCL2) | ||
| NM_001122955.3:c.1234+14T>G (BSCL2) | NP_001116427.1:n.1234+14T>G | |
| NM_001130702.2:c.*36+14T>G (BSCL2) | NP_001124174.2:n.*36+14T>G | |
| NM_032667.6:c.1042+14T>G (BSCL2) | NP_116056.3:n.1042+14T>G | |
| NR_037946.1:n.3754+14T>G (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1836+14T>G (BSCL2) | ||
| NR_037949.1:n.1842+14T>G (BSCL2) | ||
| NM_001122955.4:c.1234+14T>G (BSCL2) MANE Select | NP_001116427.1:n.1234+14T>G | |
| NM_001386027.1:c.1240+14T>G (BSCL2) | NP_001372956.1:n.1240+14T>G | |
| NM_001386028.1:c.1234+14T>G (BSCL2) | NP_001372957.1:n.1234+14T>G |