Linked Data
ClinVar Variation Id:
305177
ClinVar RCV Id:
RCV000301053
RCV000401336
RCV000431177
RCV000518650
RCV001083807
RCV001174402
RCV003940156
RCV002365351
dbSNP Id:
rs185341934
ExAC:
11:62459866 G / A
gnomAD v2:
11-62459866-G-A
gnomAD v3:
11-62692394-G-A
gnomAD v4:
11-62692394-G-A
COSMIC:
COSM1580619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62692394G>A , CM000673.2:g.62692394G>A | GRCh38 |
| NC_000011.9:g.62459866G>A , CM000673.1:g.62459866G>A | GRCh37 |
| NC_000011.8:g.62216442G>A | NCBI36 |
| NG_008461.1:g.22181C>T | |
| NG_033077.1:g.2506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1037C>T (BSCL2) | ||
| ENST00000449636.6:c.353C>T (BSCL2) | ENSP00000405265.2:p.Ala118Val | |
| ENST00000524862.6:c.845C>T (BSCL2) | ENSP00000433888.2:p.Ala282Val | |
| ENST00000682003.1:n.888C>T (BSCL2) | ||
| ENST00000682223.1:c.845C>T (BSCL2) | ENSP00000508140.1:p.Ala282Val | |
| ENST00000682262.1:c.631-973C>T (BSCL2) | ENSP00000507103.1:n.631-973C>T | |
| ENST00000682555.1:c.763C>T (BSCL2) | ENSP00000507814.1:p.Arg255Cys | |
| ENST00000682644.1:n.1237C>T (BSCL2) | ||
| ENST00000682794.1:n.1155C>T (BSCL2) | ||
| ENST00000683025.1:c.*492C>T (BSCL2) | ENSP00000507028.1:n.*492C>T | |
| ENST00000683296.1:c.845C>T (BSCL2) | ENSP00000507725.1:p.Ala282Val | |
| ENST00000683368.1:n.1036C>T (BSCL2) | ||
| ENST00000683494.1:n.1426C>T (BSCL2) | ||
| ENST00000683846.1:n.1185C>T (BSCL2) | ||
| ENST00000683892.1:n.1347C>T (BSCL2) | ||
| ENST00000684067.1:c.845C>T (BSCL2) | ENSP00000506799.1:p.Ala282Val | |
| ENST00000684115.1:n.1426C>T (BSCL2) | ||
| ENST00000684258.1:n.1273C>T (BSCL2) | ||
| ENST00000684285.1:c.*352C>T (BSCL2) | ENSP00000507669.1:n.*352C>T | |
| ENST00000684475.1:c.710C>T (BSCL2) | ENSP00000507429.1:p.Ala237Val | |
| ENST00000684609.1:n.1237C>T (BSCL2) | ||
| ENST00000684720.1:n.1237C>T (BSCL2) | ||
| ENST00000360796.10:c.845C>T (BSCL2) MANE Select | ENSP00000354032.5:p.Ala282Val | |
| ENST00000679883.1:c.845C>T (BSCL2) | ENSP00000505838.1:p.Ala282Val | |
| ENST00000278893.11:c.653C>T (BSCL2) | ENSP00000278893.7:p.Ala218Val | |
| ENST00000301781.10:c.790C>T (BSCL2) | ENSP00000301781.5:p.Arg264Cys | |
| ENST00000360796.9:c.845C>T (BSCL2) | ENSP00000354032.5:p.Ala282Val | |
| ENST00000403098.6:c.167C>T (BSCL2) | ENSP00000384258.2:p.Ala56Val | |
| ENST00000403550.5:c.653C>T (BSCL2) | ENSP00000385561.1:p.Ala218Val | |
| ENST00000403734.2:c.*896C>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*896C>T | |
| ENST00000405837.5:c.845C>T (BSCL2) | ENSP00000385332.1:p.Ala282Val | |
| ENST00000407022.7:c.653C>T (BSCL2) | ENSP00000384080.3:p.Ala218Val | |
| ENST00000412351.1:n.443C>T (BSCL2) | ||
| ENST00000421906.5:c.653C>T (BSCL2) | ENSP00000413209.1:p.Ala218Val | |
| ENST00000448568.6:c.653C>T (BSCL2) | ENSP00000413340.2:p.Ala218Val | |
| ENST00000468505.5:n.215C>T (BSCL2) | ||
| ENST00000532115.5:n.224C>T (BSCL2) | ||
| NM_001122955.3:c.845C>T (BSCL2) | NP_001116427.1:p.Ala282Val | |
| NM_001130702.2:c.653C>T (BSCL2) | NP_001124174.2:p.Ala218Val | |
| NM_032667.6:c.653C>T (BSCL2) | NP_116056.3:p.Ala218Val | |
| NR_037946.1:n.3365C>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1447C>T (BSCL2) | ||
| NR_037949.1:n.1447C>T (BSCL2) | ||
| NM_001122955.4:c.845C>T (BSCL2) MANE Select | NP_001116427.1:p.Ala282Val | |
| NM_001386027.1:c.845C>T (BSCL2) | NP_001372956.1:p.Ala282Val | |
| NM_001386028.1:c.845C>T (BSCL2) | NP_001372957.1:p.Ala282Val |