Linked Data
ClinVar Variation Id:
476819
dbSNP Id:
rs772516974
ExAC:
11:62458265 C / T
gnomAD v2:
11-62458265-C-T
gnomAD v3:
11-62690793-C-T
gnomAD v4:
11-62690793-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62690793C>T , CM000673.2:g.62690793C>T | GRCh38 |
| NC_000011.9:g.62458265C>T , CM000673.1:g.62458265C>T | GRCh37 |
| NC_000011.8:g.62214841C>T | NCBI36 |
| NG_008461.1:g.23782G>A | |
| NG_033077.1:g.4107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1477G>A (BSCL2) | ||
| ENST00000449636.6:c.655G>A (BSCL2) | ENSP00000405265.2:p.Gly219Arg | |
| ENST00000463679.6:n.1137G>A (BSCL2) | ||
| ENST00000524862.6:c.1147G>A (BSCL2) | ENSP00000433888.2:p.Gly383Arg | |
| ENST00000682003.1:n.1535G>A (BSCL2) | ||
| ENST00000682223.1:c.1147G>A (BSCL2) | ENSP00000508140.1:p.Gly383Arg | |
| ENST00000682262.1:c.*209G>A (BSCL2) | ENSP00000507103.1:n.*209G>A | |
| ENST00000682555.1:c.*258G>A (BSCL2) | ENSP00000507814.1:n.*258G>A | |
| ENST00000682644.1:n.1884G>A (BSCL2) | ||
| ENST00000682794.1:n.1664G>A (BSCL2) | ||
| ENST00000683025.1:c.*932G>A (BSCL2) | ENSP00000507028.1:n.*932G>A | |
| ENST00000683193.1:n.867G>A (BSCL2) | ||
| ENST00000683296.1:c.1123+24G>A (BSCL2) | ENSP00000507725.1:n.1123+24G>A | |
| ENST00000683368.1:n.1545G>A (BSCL2) | ||
| ENST00000683494.1:n.3027G>A (BSCL2) | ||
| ENST00000683846.1:n.1487G>A (BSCL2) | ||
| ENST00000683892.1:n.1787G>A (BSCL2) | ||
| ENST00000684067.1:c.1073-62G>A (BSCL2) | ENSP00000506799.1:n.1073-62G>A | |
| ENST00000684115.1:n.1728G>A (BSCL2) | ||
| ENST00000684258.1:n.1920G>A (BSCL2) | ||
| ENST00000684285.1:c.*654G>A (BSCL2) | ENSP00000507669.1:n.*654G>A | |
| ENST00000684475.1:c.1012G>A (BSCL2) | ENSP00000507429.1:p.Gly338Arg | |
| ENST00000684609.1:n.1884G>A (BSCL2) | ||
| ENST00000684720.1:n.2838G>A (BSCL2) | ||
| ENST00000360796.10:c.1147G>A (BSCL2) MANE Select | ENSP00000354032.5:p.Gly383Arg | |
| ENST00000679883.1:c.1147G>A (BSCL2) | ENSP00000505838.1:p.Gly383Arg | |
| ENST00000278893.11:c.813G>A (BSCL2) | ENSP00000278893.7:p.Gln271= | |
| ENST00000301781.10:c.*258G>A (BSCL2) | ENSP00000301781.5:n.*258G>A | |
| ENST00000360796.9:c.1147G>A (BSCL2) | ENSP00000354032.5:p.Gly383Arg | |
| ENST00000403098.6:c.186-372G>A (BSCL2) | ENSP00000384258.2:n.186-372G>A | |
| ENST00000403550.5:c.955G>A (BSCL2) | ENSP00000385561.1:p.Gly319Arg | |
| ENST00000403734.2:c.*1198G>A (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1198G>A | |
| ENST00000405837.5:c.1153G>A (BSCL2) | ENSP00000385332.1:p.Gly385Arg | |
| ENST00000407022.7:c.955G>A (BSCL2) | ENSP00000384080.3:p.Gly319Arg | |
| ENST00000421906.5:c.955G>A (BSCL2) | ENSP00000413209.1:p.Gly319Arg | |
| ENST00000449636.5:c.178+24G>A (BSCL2) | ENSP00000405265.1:n.178+24G>A | |
| ENST00000463679.5:n.550G>A (BSCL2) | ||
| ENST00000470529.5:n.179G>A (BSCL2) | ||
| NM_001122955.3:c.1147G>A (BSCL2) | NP_001116427.1:p.Gly383Arg | |
| NM_001130702.2:c.813G>A (BSCL2) | NP_001124174.2:p.Gln271= | |
| NM_032667.6:c.955G>A (BSCL2) | NP_116056.3:p.Gly319Arg | |
| NR_037946.1:n.3667G>A (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1749G>A (BSCL2) | ||
| NR_037949.1:n.1755G>A (BSCL2) | ||
| NM_001122955.4:c.1147G>A (BSCL2) MANE Select | NP_001116427.1:p.Gly383Arg | |
| NM_001386027.1:c.1153G>A (BSCL2) | NP_001372956.1:p.Gly385Arg | |
| NM_001386028.1:c.1147G>A (BSCL2) | NP_001372957.1:p.Gly383Arg |