Linked Data
ClinVar Variation Id:
128533
ClinVar RCV Id:
RCV000116505
RCV000320427
RCV000377345
RCV001707526
RCV001553921
RCV000860294
RCV001553920
RCV001553922
RCV001847676
RCV002463437
dbSNP Id:
rs6856
ExAC:
11:62458275 T / C
gnomAD v2:
11-62458275-T-C
gnomAD v3:
11-62690803-T-C
gnomAD v4:
11-62690803-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62690803T>C , CM000673.2:g.62690803T>C | GRCh38 |
| NC_000011.9:g.62458275T>C , CM000673.1:g.62458275T>C | GRCh37 |
| NC_000011.8:g.62214851T>C | NCBI36 |
| NG_008461.1:g.23772A>G | |
| NG_033077.1:g.4097A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1467A>G (BSCL2) | ||
| ENST00000449636.6:c.645A>G (BSCL2) | ENSP00000405265.2:p.Glu215= | |
| ENST00000463679.6:n.1127A>G (BSCL2) | ||
| ENST00000524862.6:c.1137A>G (BSCL2) | ENSP00000433888.2:p.Glu379= | |
| ENST00000682003.1:n.1525A>G (BSCL2) | ||
| ENST00000682223.1:c.1137A>G (BSCL2) | ENSP00000508140.1:p.Glu379= | |
| ENST00000682262.1:c.*199A>G (BSCL2) | ENSP00000507103.1:n.*199A>G | |
| ENST00000682555.1:c.*248A>G (BSCL2) | ENSP00000507814.1:n.*248A>G | |
| ENST00000682644.1:n.1874A>G (BSCL2) | ||
| ENST00000682794.1:n.1654A>G (BSCL2) | ||
| ENST00000683025.1:c.*922A>G (BSCL2) | ENSP00000507028.1:n.*922A>G | |
| ENST00000683193.1:n.857A>G (BSCL2) | ||
| ENST00000683296.1:c.1123+14A>G (BSCL2) | ENSP00000507725.1:n.1123+14A>G | |
| ENST00000683368.1:n.1535A>G (BSCL2) | ||
| ENST00000683494.1:n.3017A>G (BSCL2) | ||
| ENST00000683846.1:n.1477A>G (BSCL2) | ||
| ENST00000683892.1:n.1777A>G (BSCL2) | ||
| ENST00000684067.1:c.1073-72A>G (BSCL2) | ENSP00000506799.1:n.1073-72A>G | |
| ENST00000684115.1:n.1718A>G (BSCL2) | ||
| ENST00000684258.1:n.1910A>G (BSCL2) | ||
| ENST00000684285.1:c.*644A>G (BSCL2) | ENSP00000507669.1:n.*644A>G | |
| ENST00000684475.1:c.1002A>G (BSCL2) | ENSP00000507429.1:p.Glu334= | |
| ENST00000684609.1:n.1874A>G (BSCL2) | ||
| ENST00000684720.1:n.2828A>G (BSCL2) | ||
| ENST00000360796.10:c.1137A>G (BSCL2) MANE Select | ENSP00000354032.5:p.Glu379= | |
| ENST00000679883.1:c.1137A>G (BSCL2) | ENSP00000505838.1:p.Glu379= | |
| ENST00000278893.11:c.803A>G (BSCL2) | ENSP00000278893.7:p.Lys268Arg | |
| ENST00000301781.10:c.*248A>G (BSCL2) | ENSP00000301781.5:n.*248A>G | |
| ENST00000360796.9:c.1137A>G (BSCL2) | ENSP00000354032.5:p.Glu379= | |
| ENST00000403098.6:c.186-382A>G (BSCL2) | ENSP00000384258.2:n.186-382A>G | |
| ENST00000403550.5:c.945A>G (BSCL2) | ENSP00000385561.1:p.Glu315= | |
| ENST00000403734.2:c.*1188A>G (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1188A>G | |
| ENST00000405837.5:c.1143A>G (BSCL2) | ENSP00000385332.1:p.Glu381= | |
| ENST00000407022.7:c.945A>G (BSCL2) | ENSP00000384080.3:p.Glu315= | |
| ENST00000421906.5:c.945A>G (BSCL2) | ENSP00000413209.1:p.Glu315= | |
| ENST00000449636.5:c.178+14A>G (BSCL2) | ENSP00000405265.1:n.178+14A>G | |
| ENST00000463679.5:n.540A>G (BSCL2) | ||
| ENST00000470529.5:n.169A>G (BSCL2) | ||
| NM_001122955.3:c.1137A>G (BSCL2) | NP_001116427.1:p.Glu379= | |
| NM_001130702.2:c.803A>G (BSCL2) | NP_001124174.2:p.Lys268Arg | |
| NM_032667.6:c.945A>G (BSCL2) | NP_116056.3:p.Glu315= | |
| NR_037946.1:n.3657A>G (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1739A>G (BSCL2) | ||
| NR_037949.1:n.1745A>G (BSCL2) | ||
| NM_001122955.4:c.1137A>G (BSCL2) MANE Select | NP_001116427.1:p.Glu379= | |
| NM_001386027.1:c.1143A>G (BSCL2) | NP_001372956.1:p.Glu381= | |
| NM_001386028.1:c.1137A>G (BSCL2) | NP_001372957.1:p.Glu379= |