Linked Data
dbSNP Id:
rs779513433
ExAC:
11:62459942 C / T
gnomAD v2:
11-62459942-C-T
gnomAD v4:
11-62692470-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62692470C>T , CM000673.2:g.62692470C>T | GRCh38 |
| NC_000011.9:g.62459942C>T , CM000673.1:g.62459942C>T | GRCh37 |
| NC_000011.8:g.62216518C>T | NCBI36 |
| NG_008461.1:g.22105G>A | |
| NG_033077.1:g.2430G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.961G>A (BSCL2) | ||
| ENST00000449636.6:c.277G>A (BSCL2) | ENSP00000405265.2:p.Val93Met | |
| ENST00000524862.6:c.769G>A (BSCL2) | ENSP00000433888.2:p.Val257Met | |
| ENST00000682003.1:n.812G>A (BSCL2) | ||
| ENST00000682223.1:c.769G>A (BSCL2) | ENSP00000508140.1:p.Val257Met | |
| ENST00000682262.1:c.631-1049G>A (BSCL2) | ENSP00000507103.1:n.631-1049G>A | |
| ENST00000682555.1:c.687G>A (BSCL2) | ENSP00000507814.1:p.Thr229= | |
| ENST00000682644.1:n.1161G>A (BSCL2) | ||
| ENST00000682794.1:n.1079G>A (BSCL2) | ||
| ENST00000683025.1:c.*416G>A (BSCL2) | ENSP00000507028.1:n.*416G>A | |
| ENST00000683296.1:c.769G>A (BSCL2) | ENSP00000507725.1:p.Val257Met | |
| ENST00000683368.1:n.960G>A (BSCL2) | ||
| ENST00000683494.1:n.1350G>A (BSCL2) | ||
| ENST00000683846.1:n.1109G>A (BSCL2) | ||
| ENST00000683892.1:n.1271G>A (BSCL2) | ||
| ENST00000684067.1:c.769G>A (BSCL2) | ENSP00000506799.1:p.Val257Met | |
| ENST00000684115.1:n.1350G>A (BSCL2) | ||
| ENST00000684258.1:n.1197G>A (BSCL2) | ||
| ENST00000684285.1:c.*276G>A (BSCL2) | ENSP00000507669.1:n.*276G>A | |
| ENST00000684475.1:c.634G>A (BSCL2) | ENSP00000507429.1:p.Val212Met | |
| ENST00000684609.1:n.1161G>A (BSCL2) | ||
| ENST00000684720.1:n.1161G>A (BSCL2) | ||
| ENST00000360796.10:c.769G>A (BSCL2) MANE Select | ENSP00000354032.5:p.Val257Met | |
| ENST00000679883.1:c.769G>A (BSCL2) | ENSP00000505838.1:p.Val257Met | |
| ENST00000278893.11:c.577G>A (BSCL2) | ENSP00000278893.7:p.Val193Met | |
| ENST00000301781.10:c.714G>A (BSCL2) | ENSP00000301781.5:p.Thr238= | |
| ENST00000360796.9:c.769G>A (BSCL2) | ENSP00000354032.5:p.Val257Met | |
| ENST00000403098.6:c.91G>A (BSCL2) | ENSP00000384258.2:p.Val31Met | |
| ENST00000403550.5:c.577G>A (BSCL2) | ENSP00000385561.1:p.Val193Met | |
| ENST00000403734.2:c.*820G>A (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*820G>A | |
| ENST00000405837.5:c.769G>A (BSCL2) | ENSP00000385332.1:p.Val257Met | |
| ENST00000407022.7:c.577G>A (BSCL2) | ENSP00000384080.3:p.Val193Met | |
| ENST00000412351.1:n.367G>A (BSCL2) | ||
| ENST00000421906.5:c.577G>A (BSCL2) | ENSP00000413209.1:p.Val193Met | |
| ENST00000448568.6:c.577G>A (BSCL2) | ENSP00000413340.2:p.Val193Met | |
| ENST00000468505.5:n.139G>A (BSCL2) | ||
| ENST00000526426.1:n.293G>A (BSCL2) | ||
| ENST00000532115.5:n.148G>A (BSCL2) | ||
| NM_001122955.3:c.769G>A (BSCL2) | NP_001116427.1:p.Val257Met | |
| NM_001130702.2:c.577G>A (BSCL2) | NP_001124174.2:p.Val193Met | |
| NM_032667.6:c.577G>A (BSCL2) | NP_116056.3:p.Val193Met | |
| NR_037946.1:n.3289G>A (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1371G>A (BSCL2) | ||
| NR_037949.1:n.1371G>A (BSCL2) | ||
| NM_001122955.4:c.769G>A (BSCL2) MANE Select | NP_001116427.1:p.Val257Met | |
| NM_001386027.1:c.769G>A (BSCL2) | NP_001372956.1:p.Val257Met | |
| NM_001386028.1:c.769G>A (BSCL2) | NP_001372957.1:p.Val257Met |