Linked Data
ClinVar Variation Id:
4539
dbSNP Id:
rs137852971
ExAC:
11:62459885 C / G
gnomAD v2:
11-62459885-C-G
gnomAD v3:
11-62692413-C-G
gnomAD v4:
11-62692413-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62692413C>G , CM000673.2:g.62692413C>G | GRCh38 |
| NC_000011.9:g.62459885C>G , CM000673.1:g.62459885C>G | GRCh37 |
| NC_000011.8:g.62216461C>G | NCBI36 |
| NG_008461.1:g.22162G>C | |
| NG_033077.1:g.2487G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1018G>C (BSCL2) | ||
| ENST00000449636.6:c.334G>C (BSCL2) | ENSP00000405265.2:p.Ala112Pro | |
| ENST00000524862.6:c.826G>C (BSCL2) | ENSP00000433888.2:p.Ala276Pro | |
| ENST00000682003.1:n.869G>C (BSCL2) | ||
| ENST00000682223.1:c.826G>C (BSCL2) | ENSP00000508140.1:p.Ala276Pro | |
| ENST00000682262.1:c.631-992G>C (BSCL2) | ENSP00000507103.1:n.631-992G>C | |
| ENST00000682555.1:c.744G>C (BSCL2) | ENSP00000507814.1:p.Glu248Asp | |
| ENST00000682644.1:n.1218G>C (BSCL2) | ||
| ENST00000682794.1:n.1136G>C (BSCL2) | ||
| ENST00000683025.1:c.*473G>C (BSCL2) | ENSP00000507028.1:n.*473G>C | |
| ENST00000683296.1:c.826G>C (BSCL2) | ENSP00000507725.1:p.Ala276Pro | |
| ENST00000683368.1:n.1017G>C (BSCL2) | ||
| ENST00000683494.1:n.1407G>C (BSCL2) | ||
| ENST00000683846.1:n.1166G>C (BSCL2) | ||
| ENST00000683892.1:n.1328G>C (BSCL2) | ||
| ENST00000684067.1:c.826G>C (BSCL2) | ENSP00000506799.1:p.Ala276Pro | |
| ENST00000684115.1:n.1407G>C (BSCL2) | ||
| ENST00000684258.1:n.1254G>C (BSCL2) | ||
| ENST00000684285.1:c.*333G>C (BSCL2) | ENSP00000507669.1:n.*333G>C | |
| ENST00000684475.1:c.691G>C (BSCL2) | ENSP00000507429.1:p.Ala231Pro | |
| ENST00000684609.1:n.1218G>C (BSCL2) | ||
| ENST00000684720.1:n.1218G>C (BSCL2) | ||
| ENST00000360796.10:c.826G>C (BSCL2) MANE Select | ENSP00000354032.5:p.Ala276Pro | |
| ENST00000679883.1:c.826G>C (BSCL2) | ENSP00000505838.1:p.Ala276Pro | |
| ENST00000278893.11:c.634G>C (BSCL2) | ENSP00000278893.7:p.Ala212Pro | |
| ENST00000301781.10:c.771G>C (BSCL2) | ENSP00000301781.5:p.Glu257Asp | |
| ENST00000360796.9:c.826G>C (BSCL2) | ENSP00000354032.5:p.Ala276Pro | |
| ENST00000403098.6:c.148G>C (BSCL2) | ENSP00000384258.2:p.Ala50Pro | |
| ENST00000403550.5:c.634G>C (BSCL2) | ENSP00000385561.1:p.Ala212Pro | |
| ENST00000403734.2:c.*877G>C (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*877G>C | |
| ENST00000405837.5:c.826G>C (BSCL2) | ENSP00000385332.1:p.Ala276Pro | |
| ENST00000407022.7:c.634G>C (BSCL2) | ENSP00000384080.3:p.Ala212Pro | |
| ENST00000412351.1:n.424G>C (BSCL2) | ||
| ENST00000421906.5:c.634G>C (BSCL2) | ENSP00000413209.1:p.Ala212Pro | |
| ENST00000448568.6:c.634G>C (BSCL2) | ENSP00000413340.2:p.Ala212Pro | |
| ENST00000468505.5:n.196G>C (BSCL2) | ||
| ENST00000526426.1:n.350G>C (BSCL2) | ||
| ENST00000532115.5:n.205G>C (BSCL2) | ||
| NM_001122955.3:c.826G>C (BSCL2) | NP_001116427.1:p.Ala276Pro | |
| NM_001130702.2:c.634G>C (BSCL2) | NP_001124174.2:p.Ala212Pro | |
| NM_032667.6:c.634G>C (BSCL2) | NP_116056.3:p.Ala212Pro | |
| NR_037946.1:n.3346G>C (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1428G>C (BSCL2) | ||
| NR_037949.1:n.1428G>C (BSCL2) | ||
| NM_001122955.4:c.826G>C (BSCL2) MANE Select | NP_001116427.1:p.Ala276Pro | |
| NM_001386027.1:c.826G>C (BSCL2) | NP_001372956.1:p.Ala276Pro | |
| NM_001386028.1:c.826G>C (BSCL2) | NP_001372957.1:p.Ala276Pro |