Linked Data
ClinVar Variation Id:
246212
dbSNP Id:
rs189771133
ExAC:
11:62462197 C / T
gnomAD v2:
11-62462197-C-T
gnomAD v3:
11-62694725-C-T
gnomAD v4:
11-62694725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62694725C>T , CM000673.2:g.62694725C>T | GRCh38 |
| NC_000011.9:g.62462197C>T , CM000673.1:g.62462197C>T | GRCh37 |
| NC_000011.8:g.62218773C>T | NCBI36 |
| NG_008461.1:g.19850G>A | |
| NG_033077.1:g.175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.665G>A (BSCL2) | ||
| ENST00000449636.6:c.-6-14G>A (BSCL2) | ENSP00000405265.2:n.-6-14G>A | |
| ENST00000524862.6:c.487-14G>A (BSCL2) | ENSP00000433888.2:n.487-14G>A | |
| ENST00000682003.1:n.665-14G>A (BSCL2) | ||
| ENST00000682223.1:c.487-14G>A (BSCL2) | ENSP00000508140.1:n.487-14G>A | |
| ENST00000682262.1:c.487-14G>A (BSCL2) | ENSP00000507103.1:n.487-14G>A | |
| ENST00000682555.1:c.487-14G>A (BSCL2) | ENSP00000507814.1:n.487-14G>A | |
| ENST00000682644.1:n.879-14G>A (BSCL2) | ||
| ENST00000682794.1:n.797-14G>A (BSCL2) | ||
| ENST00000683025.1:c.*134-14G>A (BSCL2) | ENSP00000507028.1:n.*134-14G>A | |
| ENST00000683296.1:c.487-14G>A (BSCL2) | ENSP00000507725.1:n.487-14G>A | |
| ENST00000683368.1:n.664G>A (BSCL2) | ||
| ENST00000683494.1:n.879-14G>A (BSCL2) | ||
| ENST00000683846.1:n.813G>A (BSCL2) | ||
| ENST00000683892.1:n.989-14G>A (BSCL2) | ||
| ENST00000684067.1:c.487-14G>A (BSCL2) | ENSP00000506799.1:n.487-14G>A | |
| ENST00000684115.1:n.879-14G>A (BSCL2) | ||
| ENST00000684258.1:n.901G>A (BSCL2) | ||
| ENST00000684285.1:c.405-14G>A (BSCL2) | ENSP00000507669.1:n.405-14G>A | |
| ENST00000684475.1:c.487-14G>A (BSCL2) | ENSP00000507429.1:n.487-14G>A | |
| ENST00000684609.1:n.879-14G>A (BSCL2) | ||
| ENST00000684720.1:n.879-14G>A (BSCL2) | ||
| ENST00000360796.10:c.487-14G>A (BSCL2) MANE Select | ENSP00000354032.5:n.487-14G>A | |
| ENST00000679883.1:c.487-14G>A (BSCL2) | ENSP00000505838.1:n.487-14G>A | |
| ENST00000278893.11:c.295-14G>A (BSCL2) | ENSP00000278893.7:n.295-14G>A | |
| ENST00000301781.10:c.487-14G>A (BSCL2) | ENSP00000301781.5:n.487-14G>A | |
| ENST00000360796.9:c.487-14G>A (BSCL2) | ENSP00000354032.5:n.487-14G>A | |
| ENST00000403550.5:c.295-14G>A (BSCL2) | ENSP00000385561.1:n.295-14G>A | |
| ENST00000403734.2:c.*538-14G>A (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*538-14G>A | |
| ENST00000405837.5:c.487-14G>A (BSCL2) | ENSP00000385332.1:n.487-14G>A | |
| ENST00000407022.7:c.295-14G>A (BSCL2) | ENSP00000384080.3:n.295-14G>A | |
| ENST00000412351.1:n.85-14G>A (BSCL2) | ||
| ENST00000421906.5:c.295-14G>A (BSCL2) | ENSP00000413209.1:n.295-14G>A | |
| ENST00000448568.6:c.295-14G>A (BSCL2) | ENSP00000413340.2:n.295-14G>A | |
| ENST00000524862.5:c.487-14G>A (BSCL2) | ENSP00000433888.1:n.487-14G>A | |
| ENST00000525000.5:c.119-14G>A (BSCL2) | ||
| ENST00000530900.1:n.287-14G>A (BSCL2) | ||
| ENST00000531524.5:c.88-14G>A (BSCL2) | ENSP00000436026.1:n.88-14G>A | |
| ENST00000533982.1:c.295-14G>A (BSCL2) | ENSP00000434149.1:n.295-14G>A | |
| ENST00000537604.5:n.538-14G>A (BSCL2) | ||
| NM_001122955.3:c.487-14G>A (BSCL2) | NP_001116427.1:n.487-14G>A | |
| NM_001130702.2:c.295-14G>A (BSCL2) | NP_001124174.2:n.295-14G>A | |
| NM_032667.6:c.295-14G>A (BSCL2) | NP_116056.3:n.295-14G>A | |
| NR_037946.1:n.3007-14G>A (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1089-14G>A (BSCL2) | ||
| NR_037949.1:n.1089-14G>A (BSCL2) | ||
| NM_001122955.4:c.487-14G>A (BSCL2) MANE Select | NP_001116427.1:n.487-14G>A | |
| NM_001386027.1:c.487-14G>A (BSCL2) | NP_001372956.1:n.487-14G>A | |
| NM_001386028.1:c.487-14G>A (BSCL2) | NP_001372957.1:n.487-14G>A |