Linked Data
ClinVar Variation Id:
128532
ClinVar RCV Id:
RCV000116504
RCV000174173
RCV000664139
RCV001082147
RCV000300263
RCV001847675
RCV000357438
RCV002426660
RCV002498501
dbSNP Id:
rs145649423
ExAC:
11:62457948 A / G
gnomAD v2:
11-62457948-A-G
gnomAD v3:
11-62690476-A-G
gnomAD v4:
11-62690476-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62690476A>G , CM000673.2:g.62690476A>G | GRCh38 |
| NC_000011.9:g.62457948A>G , CM000673.1:g.62457948A>G | GRCh37 |
| NC_000011.8:g.62214524A>G | NCBI36 |
| NG_008461.1:g.24099T>C | |
| NG_033077.1:g.4424T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449636.6:c.788T>C (BSCL2) | ENSP00000405265.2:p.Leu263Pro | |
| ENST00000463679.6:n.1364T>C (BSCL2) | ||
| ENST00000524862.6:c.1280T>C (BSCL2) | ENSP00000433888.2:p.Leu427Pro | |
| ENST00000682003.1:n.1668T>C (BSCL2) | ||
| ENST00000682223.1:c.*13T>C (BSCL2) | ENSP00000508140.1:n.*13T>C | |
| ENST00000682262.1:c.*342T>C (BSCL2) | ENSP00000507103.1:n.*342T>C | |
| ENST00000682555.1:c.*391T>C (BSCL2) | ENSP00000507814.1:n.*391T>C | |
| ENST00000682644.1:n.2107T>C (BSCL2) | ||
| ENST00000682794.1:n.1797T>C (BSCL2) | ||
| ENST00000683025.1:c.*1065T>C (BSCL2) | ENSP00000507028.1:n.*1065T>C | |
| ENST00000683193.1:n.1090T>C (BSCL2) | ||
| ENST00000683296.1:c.1289T>C (BSCL2) | ENSP00000507725.1:p.Leu430Pro | |
| ENST00000683368.1:n.1678T>C (BSCL2) | ||
| ENST00000683494.1:n.3160T>C (BSCL2) | ||
| ENST00000683846.1:n.1620T>C (BSCL2) | ||
| ENST00000683892.1:n.1920T>C (BSCL2) | ||
| ENST00000684067.1:c.1238T>C (BSCL2) | ENSP00000506799.1:p.Leu413Pro | |
| ENST00000684115.1:n.1861T>C (BSCL2) | ||
| ENST00000684258.1:n.2053T>C (BSCL2) | ||
| ENST00000684285.1:c.*787T>C (BSCL2) | ENSP00000507669.1:n.*787T>C | |
| ENST00000684475.1:c.1145T>C (BSCL2) | ENSP00000507429.1:p.Leu382Pro | |
| ENST00000684609.1:n.2201T>C (BSCL2) | ||
| ENST00000684720.1:n.3061T>C (BSCL2) | ||
| ENST00000360796.10:c.1280T>C (BSCL2) MANE Select | ENSP00000354032.5:p.Leu427Pro | |
| ENST00000679883.1:c.1280T>C (BSCL2) | ENSP00000505838.1:p.Leu427Pro | |
| ENST00000278893.11:c.*82T>C (BSCL2) | ENSP00000278893.7:n.*82T>C | |
| ENST00000301781.10:c.*391T>C (BSCL2) | ENSP00000301781.5:n.*391T>C | |
| ENST00000360796.9:c.1280T>C (BSCL2) | ENSP00000354032.5:p.Leu427Pro | |
| ENST00000403098.6:c.186-55T>C (BSCL2) | ENSP00000384258.2:n.186-55T>C | |
| ENST00000403550.5:c.1088T>C (BSCL2) | ENSP00000385561.1:p.Leu363Pro | |
| ENST00000403734.2:c.*1331T>C (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1331T>C | |
| ENST00000405837.5:c.1286T>C (BSCL2) | ENSP00000385332.1:p.Leu429Pro | |
| ENST00000407022.7:c.1088T>C (BSCL2) | ENSP00000384080.3:p.Leu363Pro | |
| ENST00000421906.5:c.1088T>C (BSCL2) | ENSP00000413209.1:p.Leu363Pro | |
| ENST00000449636.5:c.344T>C (BSCL2) | ENSP00000405265.1:p.Leu115Pro | |
| ENST00000463679.5:n.683T>C (BSCL2) | ||
| ENST00000470529.5:n.312T>C (BSCL2) | ||
| NM_001122955.3:c.1280T>C (BSCL2) | NP_001116427.1:p.Leu427Pro | |
| NM_001130702.2:c.*82T>C (BSCL2) | NP_001124174.2:n.*82T>C | |
| NM_032667.6:c.1088T>C (BSCL2) | NP_116056.3:p.Leu363Pro | |
| NR_037946.1:n.3800T>C (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1882T>C (BSCL2) | ||
| NR_037949.1:n.1888T>C (BSCL2) | ||
| NM_001122955.4:c.1280T>C (BSCL2) MANE Select | NP_001116427.1:p.Leu427Pro | |
| NM_001386027.1:c.1286T>C (BSCL2) | NP_001372956.1:p.Leu429Pro | |
| NM_001386028.1:c.1280T>C (BSCL2) | NP_001372957.1:p.Leu427Pro |