Linked Data
ClinVar Variation Id:
411580
dbSNP Id:
rs1060503382
gnomAD v2:
11-62457874-C-A
gnomAD v3:
11-62690402-C-A
gnomAD v4:
11-62690402-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62690402C>A , CM000673.2:g.62690402C>A | GRCh38 |
| NC_000011.9:g.62457874C>A , CM000673.1:g.62457874C>A | GRCh37 |
| NC_000011.8:g.62214450C>A | NCBI36 |
| NG_008461.1:g.24173G>T | |
| NG_033077.1:g.4498G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449636.6:c.862G>T (BSCL2) | ENSP00000405265.2:p.Ala288Ser | |
| ENST00000463679.6:n.1438G>T (BSCL2) | ||
| ENST00000524862.6:c.1354G>T (BSCL2) | ENSP00000433888.2:p.Ala452Ser | |
| ENST00000682003.1:n.1742G>T (BSCL2) | ||
| ENST00000682223.1:c.*87G>T (BSCL2) | ENSP00000508140.1:n.*87G>T | |
| ENST00000682262.1:c.*416G>T (BSCL2) | ENSP00000507103.1:n.*416G>T | |
| ENST00000682555.1:c.*465G>T (BSCL2) | ENSP00000507814.1:n.*465G>T | |
| ENST00000682794.1:n.1871G>T (BSCL2) | ||
| ENST00000683025.1:c.*1139G>T (BSCL2) | ENSP00000507028.1:n.*1139G>T | |
| ENST00000683193.1:n.1164G>T (BSCL2) | ||
| ENST00000683296.1:c.1363G>T (BSCL2) | ENSP00000507725.1:p.Ala455Ser | |
| ENST00000683368.1:n.1752G>T (BSCL2) | ||
| ENST00000683494.1:n.3234G>T (BSCL2) | ||
| ENST00000683846.1:n.1694G>T (BSCL2) | ||
| ENST00000683892.1:n.1994G>T (BSCL2) | ||
| ENST00000684067.1:c.1312G>T (BSCL2) | ENSP00000506799.1:p.Ala438Ser | |
| ENST00000684115.1:n.1935G>T (BSCL2) | ||
| ENST00000684258.1:n.2127G>T (BSCL2) | ||
| ENST00000684285.1:c.*861G>T (BSCL2) | ENSP00000507669.1:n.*861G>T | |
| ENST00000684475.1:c.1219G>T (BSCL2) | ENSP00000507429.1:p.Ala407Ser | |
| ENST00000684609.1:n.2275G>T (BSCL2) | ||
| ENST00000360796.10:c.1354G>T (BSCL2) MANE Select | ENSP00000354032.5:p.Ala452Ser | |
| ENST00000679883.1:c.1354G>T (BSCL2) | ENSP00000505838.1:p.Ala452Ser | |
| ENST00000278893.11:c.*156G>T (BSCL2) | ENSP00000278893.7:n.*156G>T | |
| ENST00000301781.10:c.*465G>T (BSCL2) | ENSP00000301781.5:n.*465G>T | |
| ENST00000360796.9:c.1354G>T (BSCL2) | ENSP00000354032.5:p.Ala452Ser | |
| ENST00000403098.6:c.205G>T (BSCL2) | ENSP00000384258.2:p.Ala69Ser | |
| ENST00000403550.5:c.1162G>T (BSCL2) | ENSP00000385561.1:p.Ala388Ser | |
| ENST00000403734.2:c.*1405G>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1405G>T | |
| ENST00000405837.5:c.1360G>T (BSCL2) | ENSP00000385332.1:p.Ala454Ser | |
| ENST00000407022.7:c.1162G>T (BSCL2) | ENSP00000384080.3:p.Ala388Ser | |
| ENST00000421906.5:c.1162G>T (BSCL2) | ENSP00000413209.1:p.Ala388Ser | |
| ENST00000449636.5:c.418G>T (BSCL2) | ENSP00000405265.1:p.Ala140Ser | |
| ENST00000463679.5:n.757G>T (BSCL2) | ||
| ENST00000470529.5:n.386G>T (BSCL2) | ||
| NM_001122955.3:c.1354G>T (BSCL2) | NP_001116427.1:p.Ala452Ser | |
| NM_001130702.2:c.*156G>T (BSCL2) | NP_001124174.2:n.*156G>T | |
| NM_032667.6:c.1162G>T (BSCL2) | NP_116056.3:p.Ala388Ser | |
| NR_037946.1:n.3874G>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1956G>T (BSCL2) | ||
| NR_037949.1:n.1962G>T (BSCL2) | ||
| NM_001122955.4:c.1354G>T (BSCL2) MANE Select | NP_001116427.1:p.Ala452Ser | |
| NM_001386027.1:c.1360G>T (BSCL2) | NP_001372956.1:p.Ala454Ser | |
| NM_001386028.1:c.1354G>T (BSCL2) | NP_001372957.1:p.Ala452Ser |