Linked Data
ClinVar Variation Id:
193938
dbSNP Id:
rs149466797
ExAC:
11:62457861 C / T
gnomAD v2:
11-62457861-C-T
gnomAD v3:
11-62690389-C-T
gnomAD v4:
11-62690389-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62690389C>T , CM000673.2:g.62690389C>T | GRCh38 |
| NC_000011.9:g.62457861C>T , CM000673.1:g.62457861C>T | GRCh37 |
| NC_000011.8:g.62214437C>T | NCBI36 |
| NG_008461.1:g.24186G>A | |
| NG_033077.1:g.4511G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449636.6:c.875G>A (BSCL2) | ENSP00000405265.2:p.Arg292His | |
| ENST00000463679.6:n.1451G>A (BSCL2) | ||
| ENST00000524862.6:c.1367G>A (BSCL2) | ENSP00000433888.2:p.Arg456His | |
| ENST00000682003.1:n.1755G>A (BSCL2) | ||
| ENST00000682223.1:c.*100G>A (BSCL2) | ENSP00000508140.1:n.*100G>A | |
| ENST00000682262.1:c.*429G>A (BSCL2) | ENSP00000507103.1:n.*429G>A | |
| ENST00000682555.1:c.*478G>A (BSCL2) | ENSP00000507814.1:n.*478G>A | |
| ENST00000682794.1:n.1884G>A (BSCL2) | ||
| ENST00000683025.1:c.*1152G>A (BSCL2) | ENSP00000507028.1:n.*1152G>A | |
| ENST00000683193.1:n.1177G>A (BSCL2) | ||
| ENST00000683296.1:c.1376G>A (BSCL2) | ENSP00000507725.1:p.Arg459His | |
| ENST00000683368.1:n.1765G>A (BSCL2) | ||
| ENST00000683494.1:n.3247G>A (BSCL2) | ||
| ENST00000683846.1:n.1707G>A (BSCL2) | ||
| ENST00000683892.1:n.2007G>A (BSCL2) | ||
| ENST00000684067.1:c.1325G>A (BSCL2) | ENSP00000506799.1:p.Arg442His | |
| ENST00000684115.1:n.1948G>A (BSCL2) | ||
| ENST00000684258.1:n.2140G>A (BSCL2) | ||
| ENST00000684285.1:c.*874G>A (BSCL2) | ENSP00000507669.1:n.*874G>A | |
| ENST00000684475.1:c.1232G>A (BSCL2) | ENSP00000507429.1:p.Arg411His | |
| ENST00000684609.1:n.2288G>A (BSCL2) | ||
| ENST00000360796.10:c.1367G>A (BSCL2) MANE Select | ENSP00000354032.5:p.Arg456His | |
| ENST00000679883.1:c.1367G>A (BSCL2) | ENSP00000505838.1:p.Arg456His | |
| ENST00000278893.11:c.*169G>A (BSCL2) | ENSP00000278893.7:n.*169G>A | |
| ENST00000301781.10:c.*478G>A (BSCL2) | ENSP00000301781.5:n.*478G>A | |
| ENST00000360796.9:c.1367G>A (BSCL2) | ENSP00000354032.5:p.Arg456His | |
| ENST00000403098.6:c.218G>A (BSCL2) | ENSP00000384258.2:p.Arg73His | |
| ENST00000403550.5:c.1175G>A (BSCL2) | ENSP00000385561.1:p.Arg392His | |
| ENST00000403734.2:c.*1418G>A (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1418G>A | |
| ENST00000405837.5:c.1373G>A (BSCL2) | ENSP00000385332.1:p.Arg458His | |
| ENST00000407022.7:c.1175G>A (BSCL2) | ENSP00000384080.3:p.Arg392His | |
| ENST00000421906.5:c.1175G>A (BSCL2) | ENSP00000413209.1:p.Arg392His | |
| ENST00000449636.5:c.431G>A (BSCL2) | ENSP00000405265.1:p.Arg144His | |
| ENST00000463679.5:n.770G>A (BSCL2) | ||
| ENST00000470529.5:n.399G>A (BSCL2) | ||
| NM_001122955.3:c.1367G>A (BSCL2) | NP_001116427.1:p.Arg456His | |
| NM_001130702.2:c.*169G>A (BSCL2) | NP_001124174.2:n.*169G>A | |
| NM_032667.6:c.1175G>A (BSCL2) | NP_116056.3:p.Arg392His | |
| NR_037946.1:n.3887G>A (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1969G>A (BSCL2) | ||
| NR_037949.1:n.1975G>A (BSCL2) | ||
| NM_001122955.4:c.1367G>A (BSCL2) MANE Select | NP_001116427.1:p.Arg456His | |
| NM_001386027.1:c.1373G>A (BSCL2) | NP_001372956.1:p.Arg458His | |
| NM_001386028.1:c.1367G>A (BSCL2) | NP_001372957.1:p.Arg456His |