Linked Data
ClinVar Variation Id:
241723
dbSNP Id:
rs377310581
ExAC:
11:62457940 G / A
gnomAD v2:
11-62457940-G-A
gnomAD v3:
11-62690468-G-A
gnomAD v4:
11-62690468-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62690468G>A , CM000673.2:g.62690468G>A | GRCh38 |
| NC_000011.9:g.62457940G>A , CM000673.1:g.62457940G>A | GRCh37 |
| NC_000011.8:g.62214516G>A | NCBI36 |
| NG_008461.1:g.24107C>T | |
| NG_033077.1:g.4432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449636.6:c.796C>T (BSCL2) | ENSP00000405265.2:p.Pro266Ser | |
| ENST00000463679.6:n.1372C>T (BSCL2) | ||
| ENST00000524862.6:c.1288C>T (BSCL2) | ENSP00000433888.2:p.Pro430Ser | |
| ENST00000682003.1:n.1676C>T (BSCL2) | ||
| ENST00000682223.1:c.*21C>T (BSCL2) | ENSP00000508140.1:n.*21C>T | |
| ENST00000682262.1:c.*350C>T (BSCL2) | ENSP00000507103.1:n.*350C>T | |
| ENST00000682555.1:c.*399C>T (BSCL2) | ENSP00000507814.1:n.*399C>T | |
| ENST00000682644.1:n.2115C>T (BSCL2) | ||
| ENST00000682794.1:n.1805C>T (BSCL2) | ||
| ENST00000683025.1:c.*1073C>T (BSCL2) | ENSP00000507028.1:n.*1073C>T | |
| ENST00000683193.1:n.1098C>T (BSCL2) | ||
| ENST00000683296.1:c.1297C>T (BSCL2) | ENSP00000507725.1:p.Pro433Ser | |
| ENST00000683368.1:n.1686C>T (BSCL2) | ||
| ENST00000683494.1:n.3168C>T (BSCL2) | ||
| ENST00000683846.1:n.1628C>T (BSCL2) | ||
| ENST00000683892.1:n.1928C>T (BSCL2) | ||
| ENST00000684067.1:c.1246C>T (BSCL2) | ENSP00000506799.1:p.Pro416Ser | |
| ENST00000684115.1:n.1869C>T (BSCL2) | ||
| ENST00000684258.1:n.2061C>T (BSCL2) | ||
| ENST00000684285.1:c.*795C>T (BSCL2) | ENSP00000507669.1:n.*795C>T | |
| ENST00000684475.1:c.1153C>T (BSCL2) | ENSP00000507429.1:p.Pro385Ser | |
| ENST00000684609.1:n.2209C>T (BSCL2) | ||
| ENST00000684720.1:n.3069C>T (BSCL2) | ||
| ENST00000360796.10:c.1288C>T (BSCL2) MANE Select | ENSP00000354032.5:p.Pro430Ser | |
| ENST00000679883.1:c.1288C>T (BSCL2) | ENSP00000505838.1:p.Pro430Ser | |
| ENST00000278893.11:c.*90C>T (BSCL2) | ENSP00000278893.7:n.*90C>T | |
| ENST00000301781.10:c.*399C>T (BSCL2) | ENSP00000301781.5:n.*399C>T | |
| ENST00000360796.9:c.1288C>T (BSCL2) | ENSP00000354032.5:p.Pro430Ser | |
| ENST00000403098.6:c.186-47C>T (BSCL2) | ENSP00000384258.2:n.186-47C>T | |
| ENST00000403550.5:c.1096C>T (BSCL2) | ENSP00000385561.1:p.Pro366Ser | |
| ENST00000403734.2:c.*1339C>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1339C>T | |
| ENST00000405837.5:c.1294C>T (BSCL2) | ENSP00000385332.1:p.Pro432Ser | |
| ENST00000407022.7:c.1096C>T (BSCL2) | ENSP00000384080.3:p.Pro366Ser | |
| ENST00000421906.5:c.1096C>T (BSCL2) | ENSP00000413209.1:p.Pro366Ser | |
| ENST00000449636.5:c.352C>T (BSCL2) | ENSP00000405265.1:p.Pro118Ser | |
| ENST00000463679.5:n.691C>T (BSCL2) | ||
| ENST00000470529.5:n.320C>T (BSCL2) | ||
| NM_001122955.3:c.1288C>T (BSCL2) | NP_001116427.1:p.Pro430Ser | |
| NM_001130702.2:c.*90C>T (BSCL2) | NP_001124174.2:n.*90C>T | |
| NM_032667.6:c.1096C>T (BSCL2) | NP_116056.3:p.Pro366Ser | |
| NR_037946.1:n.3808C>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1890C>T (BSCL2) | ||
| NR_037949.1:n.1896C>T (BSCL2) | ||
| NM_001122955.4:c.1288C>T (BSCL2) MANE Select | NP_001116427.1:p.Pro430Ser | |
| NM_001386027.1:c.1294C>T (BSCL2) | NP_001372956.1:p.Pro432Ser | |
| NM_001386028.1:c.1288C>T (BSCL2) | NP_001372957.1:p.Pro430Ser |