Linked Data
ClinVar Variation Id:
246599
dbSNP Id:
rs149412531
ExAC:
11:62469978 C / T
gnomAD v2:
11-62469978-C-T
gnomAD v3:
11-62702506-C-T
gnomAD v4:
11-62702506-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62702506C>T , CM000673.2:g.62702506C>T | GRCh38 |
| NC_000011.9:g.62469978C>T , CM000673.1:g.62469978C>T | GRCh37 |
| NC_000011.8:g.62226554C>T | NCBI36 |
| NG_008461.1:g.12069G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449636.6:c.-45G>A (BSCL2) | ENSP00000405265.2:n.-45G>A | |
| ENST00000524862.6:c.448G>A (BSCL2) | ENSP00000433888.2:p.Val150Ile | |
| ENST00000682003.1:n.626G>A (BSCL2) | ||
| ENST00000682223.1:c.448G>A (BSCL2) | ENSP00000508140.1:p.Val150Ile | |
| ENST00000682262.1:c.448G>A (BSCL2) | ENSP00000507103.1:p.Val150Ile | |
| ENST00000682555.1:c.448G>A (BSCL2) | ENSP00000507814.1:p.Val150Ile | |
| ENST00000682644.1:n.840G>A (BSCL2) | ||
| ENST00000682794.1:n.796+2795G>A (BSCL2) | ||
| ENST00000683025.1:c.448G>A (BSCL2) | ENSP00000507028.1:p.Val150Ile | |
| ENST00000683296.1:c.448G>A (BSCL2) | ENSP00000507725.1:p.Val150Ile | |
| ENST00000683494.1:n.840G>A (BSCL2) | ||
| ENST00000683892.1:n.950G>A (BSCL2) | ||
| ENST00000684067.1:c.448G>A (BSCL2) | ENSP00000506799.1:p.Val150Ile | |
| ENST00000684115.1:n.840G>A (BSCL2) | ||
| ENST00000684285.1:c.404+2795G>A (BSCL2) | ENSP00000507669.1:n.404+2795G>A | |
| ENST00000684475.1:c.448G>A (BSCL2) | ENSP00000507429.1:p.Val150Ile | |
| ENST00000684609.1:n.840G>A (BSCL2) | ||
| ENST00000684720.1:n.840G>A (BSCL2) | ||
| ENST00000360796.10:c.448G>A (BSCL2) MANE Select | ENSP00000354032.5:p.Val150Ile | |
| ENST00000679883.1:c.448G>A (BSCL2) | ENSP00000505838.1:p.Val150Ile | |
| ENST00000278893.11:c.256G>A (BSCL2) | ENSP00000278893.7:p.Val86Ile | |
| ENST00000301781.10:c.448G>A (BSCL2) | ENSP00000301781.5:p.Val150Ile | |
| ENST00000360796.9:c.448G>A (BSCL2) | ENSP00000354032.5:p.Val150Ile | |
| ENST00000403550.5:c.256G>A (BSCL2) | ENSP00000385561.1:p.Val86Ile | |
| ENST00000403734.2:c.*499G>A (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*499G>A | |
| ENST00000405837.5:c.448G>A (BSCL2) | ENSP00000385332.1:p.Val150Ile | |
| ENST00000407022.7:c.256G>A (BSCL2) | ENSP00000384080.3:p.Val86Ile | |
| ENST00000421906.5:c.256G>A (BSCL2) | ENSP00000413209.1:p.Val86Ile | |
| ENST00000448568.6:c.256G>A (BSCL2) | ENSP00000413340.2:p.Val86Ile | |
| ENST00000524862.5:c.448G>A (BSCL2) | ENSP00000433888.1:p.Val150Ile | |
| ENST00000525000.5:c.80G>A (BSCL2) | ||
| ENST00000530900.1:n.248G>A (BSCL2) | ||
| ENST00000531524.5:c.87+4603G>A (BSCL2) | ENSP00000436026.1:n.87+4603G>A | |
| ENST00000533982.1:c.256G>A (BSCL2) | ENSP00000434149.1:p.Val86Ile | |
| ENST00000537604.5:n.499G>A (BSCL2) | ||
| NM_001122955.3:c.448G>A (BSCL2) | NP_001116427.1:p.Val150Ile | |
| NM_001130702.2:c.256G>A (BSCL2) | NP_001124174.2:p.Val86Ile | |
| NM_032667.6:c.256G>A (BSCL2) | NP_116056.3:p.Val86Ile | |
| NR_037946.1:n.2968G>A (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1050G>A (BSCL2) | ||
| NR_037949.1:n.1050G>A (BSCL2) | ||
| NM_001122955.4:c.448G>A (BSCL2) MANE Select | NP_001116427.1:p.Val150Ile | |
| NM_001386027.1:c.448G>A (BSCL2) | NP_001372956.1:p.Val150Ile | |
| NM_001386028.1:c.448G>A (BSCL2) | NP_001372957.1:p.Val150Ile |