Linked Data
ClinVar Variation Id:
305178
dbSNP Id:
rs151018278
ExAC:
11:62459888 C / T
gnomAD v2:
11-62459888-C-T
gnomAD v3:
11-62692416-C-T
gnomAD v4:
11-62692416-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62692416C>T , CM000673.2:g.62692416C>T | GRCh38 |
| NC_000011.9:g.62459888C>T , CM000673.1:g.62459888C>T | GRCh37 |
| NC_000011.8:g.62216464C>T | NCBI36 |
| NG_008461.1:g.22159G>A | |
| NG_033077.1:g.2484G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1015G>A (BSCL2) | ||
| ENST00000449636.6:c.331G>A (BSCL2) | ENSP00000405265.2:p.Gly111Arg | |
| ENST00000524862.6:c.823G>A (BSCL2) | ENSP00000433888.2:p.Gly275Arg | |
| ENST00000682003.1:n.866G>A (BSCL2) | ||
| ENST00000682223.1:c.823G>A (BSCL2) | ENSP00000508140.1:p.Gly275Arg | |
| ENST00000682262.1:c.631-995G>A (BSCL2) | ENSP00000507103.1:n.631-995G>A | |
| ENST00000682555.1:c.741G>A (BSCL2) | ENSP00000507814.1:p.Met247Ile | |
| ENST00000682644.1:n.1215G>A (BSCL2) | ||
| ENST00000682794.1:n.1133G>A (BSCL2) | ||
| ENST00000683025.1:c.*470G>A (BSCL2) | ENSP00000507028.1:n.*470G>A | |
| ENST00000683296.1:c.823G>A (BSCL2) | ENSP00000507725.1:p.Gly275Arg | |
| ENST00000683368.1:n.1014G>A (BSCL2) | ||
| ENST00000683494.1:n.1404G>A (BSCL2) | ||
| ENST00000683846.1:n.1163G>A (BSCL2) | ||
| ENST00000683892.1:n.1325G>A (BSCL2) | ||
| ENST00000684067.1:c.823G>A (BSCL2) | ENSP00000506799.1:p.Gly275Arg | |
| ENST00000684115.1:n.1404G>A (BSCL2) | ||
| ENST00000684258.1:n.1251G>A (BSCL2) | ||
| ENST00000684285.1:c.*330G>A (BSCL2) | ENSP00000507669.1:n.*330G>A | |
| ENST00000684475.1:c.688G>A (BSCL2) | ENSP00000507429.1:p.Gly230Arg | |
| ENST00000684609.1:n.1215G>A (BSCL2) | ||
| ENST00000684720.1:n.1215G>A (BSCL2) | ||
| ENST00000360796.10:c.823G>A (BSCL2) MANE Select | ENSP00000354032.5:p.Gly275Arg | |
| ENST00000679883.1:c.823G>A (BSCL2) | ENSP00000505838.1:p.Gly275Arg | |
| ENST00000278893.11:c.631G>A (BSCL2) | ENSP00000278893.7:p.Gly211Arg | |
| ENST00000301781.10:c.768G>A (BSCL2) | ENSP00000301781.5:p.Met256Ile | |
| ENST00000360796.9:c.823G>A (BSCL2) | ENSP00000354032.5:p.Gly275Arg | |
| ENST00000403098.6:c.145G>A (BSCL2) | ENSP00000384258.2:p.Gly49Arg | |
| ENST00000403550.5:c.631G>A (BSCL2) | ENSP00000385561.1:p.Gly211Arg | |
| ENST00000403734.2:c.*874G>A (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*874G>A | |
| ENST00000405837.5:c.823G>A (BSCL2) | ENSP00000385332.1:p.Gly275Arg | |
| ENST00000407022.7:c.631G>A (BSCL2) | ENSP00000384080.3:p.Gly211Arg | |
| ENST00000412351.1:n.421G>A (BSCL2) | ||
| ENST00000421906.5:c.631G>A (BSCL2) | ENSP00000413209.1:p.Gly211Arg | |
| ENST00000448568.6:c.631G>A (BSCL2) | ENSP00000413340.2:p.Gly211Arg | |
| ENST00000468505.5:n.193G>A (BSCL2) | ||
| ENST00000526426.1:n.347G>A (BSCL2) | ||
| ENST00000532115.5:n.202G>A (BSCL2) | ||
| NM_001122955.3:c.823G>A (BSCL2) | NP_001116427.1:p.Gly275Arg | |
| NM_001130702.2:c.631G>A (BSCL2) | NP_001124174.2:p.Gly211Arg | |
| NM_032667.6:c.631G>A (BSCL2) | NP_116056.3:p.Gly211Arg | |
| NR_037946.1:n.3343G>A (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1425G>A (BSCL2) | ||
| NR_037949.1:n.1425G>A (BSCL2) | ||
| NM_001122955.4:c.823G>A (BSCL2) MANE Select | NP_001116427.1:p.Gly275Arg | |
| NM_001386027.1:c.823G>A (BSCL2) | NP_001372956.1:p.Gly275Arg | |
| NM_001386028.1:c.823G>A (BSCL2) | NP_001372957.1:p.Gly275Arg |