Linked Data
ClinVar Variation Id:
4546
dbSNP Id:
rs137852975
ExAC:
11:62460143 C / A
gnomAD v2:
11-62460143-C-A
gnomAD v3:
11-62692671-C-A
gnomAD v4:
11-62692671-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62692671C>A , CM000673.2:g.62692671C>A | GRCh38 |
| NC_000011.9:g.62460143C>A , CM000673.1:g.62460143C>A | GRCh37 |
| NC_000011.8:g.62216719C>A | NCBI36 |
| NG_008461.1:g.21904G>T | |
| NG_033077.1:g.2229G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.949G>T (BSCL2) | ||
| ENST00000449636.6:c.265G>T (BSCL2) | ENSP00000405265.2:p.Glu89Ter | |
| ENST00000524862.6:c.757G>T (BSCL2) | ENSP00000433888.2:p.Glu253Ter | |
| ENST00000682003.1:n.809-198G>T (BSCL2) | ||
| ENST00000682223.1:c.757G>T (BSCL2) | ENSP00000508140.1:p.Glu253Ter | |
| ENST00000682262.1:c.631-1250G>T (BSCL2) | ENSP00000507103.1:n.631-1250G>T | |
| ENST00000682555.1:c.675G>T (BSCL2) | ENSP00000507814.1:p.Glu225Asp | |
| ENST00000682644.1:n.1149G>T (BSCL2) | ||
| ENST00000682794.1:n.1067G>T (BSCL2) | ||
| ENST00000683025.1:c.*404G>T (BSCL2) | ENSP00000507028.1:n.*404G>T | |
| ENST00000683296.1:c.757G>T (BSCL2) | ENSP00000507725.1:p.Glu253Ter | |
| ENST00000683368.1:n.948G>T (BSCL2) | ||
| ENST00000683494.1:n.1149G>T (BSCL2) | ||
| ENST00000683846.1:n.1097G>T (BSCL2) | ||
| ENST00000683892.1:n.1259G>T (BSCL2) | ||
| ENST00000684067.1:c.757G>T (BSCL2) | ENSP00000506799.1:p.Glu253Ter | |
| ENST00000684115.1:n.1149G>T (BSCL2) | ||
| ENST00000684258.1:n.1185G>T (BSCL2) | ||
| ENST00000684285.1:c.*264G>T (BSCL2) | ENSP00000507669.1:n.*264G>T | |
| ENST00000684475.1:c.631-198G>T (BSCL2) | ENSP00000507429.1:n.631-198G>T | |
| ENST00000684609.1:n.1149G>T (BSCL2) | ||
| ENST00000684720.1:n.1149G>T (BSCL2) | ||
| ENST00000360796.10:c.757G>T (BSCL2) MANE Select | ENSP00000354032.5:p.Glu253Ter | |
| ENST00000679883.1:c.757G>T (BSCL2) | ENSP00000505838.1:p.Glu253Ter | |
| ENST00000278893.11:c.565G>T (BSCL2) | ENSP00000278893.7:p.Glu189Ter | |
| ENST00000301781.10:c.702G>T (BSCL2) | ENSP00000301781.5:p.Glu234Asp | |
| ENST00000360796.9:c.757G>T (BSCL2) | ENSP00000354032.5:p.Glu253Ter | |
| ENST00000403098.6:c.79G>T (BSCL2) | ENSP00000384258.2:p.Glu27Ter | |
| ENST00000403550.5:c.565G>T (BSCL2) | ENSP00000385561.1:p.Glu189Ter | |
| ENST00000403734.2:c.*808G>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*808G>T | |
| ENST00000405837.5:c.757G>T (BSCL2) | ENSP00000385332.1:p.Glu253Ter | |
| ENST00000407022.7:c.565G>T (BSCL2) | ENSP00000384080.3:p.Glu189Ter | |
| ENST00000412351.1:n.355G>T (BSCL2) | ||
| ENST00000421906.5:c.565G>T (BSCL2) | ENSP00000413209.1:p.Glu189Ter | |
| ENST00000448568.6:c.565G>T (BSCL2) | ENSP00000413340.2:p.Glu189Ter | |
| ENST00000468505.5:n.127G>T (BSCL2) | ||
| ENST00000526426.1:n.272G>T (BSCL2) | ||
| ENST00000532115.5:n.145-198G>T (BSCL2) | ||
| NM_001122955.3:c.757G>T (BSCL2) | NP_001116427.1:p.Glu253Ter | |
| NM_001130702.2:c.565G>T (BSCL2) | NP_001124174.2:p.Glu189Ter | |
| NM_032667.6:c.565G>T (BSCL2) | NP_116056.3:p.Glu189Ter | |
| NR_037946.1:n.3277G>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1359G>T (BSCL2) | ||
| NR_037949.1:n.1359G>T (BSCL2) | ||
| NM_001122955.4:c.757G>T (BSCL2) MANE Select | NP_001116427.1:p.Glu253Ter | |
| NM_001386027.1:c.757G>T (BSCL2) | NP_001372956.1:p.Glu253Ter | |
| NM_001386028.1:c.757G>T (BSCL2) | NP_001372957.1:p.Glu253Ter |