Linked Data
ClinVar Variation Id:
246596
dbSNP Id:
rs780093151
ExAC:
11:62470006 G / A
gnomAD v2:
11-62470006-G-A
gnomAD v3:
11-62702534-G-A
gnomAD v4:
11-62702534-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62702534G>A , CM000673.2:g.62702534G>A | GRCh38 |
| NC_000011.9:g.62470006G>A , CM000673.1:g.62470006G>A | GRCh37 |
| NC_000011.8:g.62226582G>A | NCBI36 |
| NG_008461.1:g.12041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449636.6:c.-73C>T (BSCL2) | ENSP00000405265.2:n.-73C>T | |
| ENST00000524862.6:c.420C>T (BSCL2) | ENSP00000433888.2:p.Ser140= | |
| ENST00000682003.1:n.598C>T (BSCL2) | ||
| ENST00000682223.1:c.420C>T (BSCL2) | ENSP00000508140.1:p.Ser140= | |
| ENST00000682262.1:c.420C>T (BSCL2) | ENSP00000507103.1:p.Ser140= | |
| ENST00000682555.1:c.420C>T (BSCL2) | ENSP00000507814.1:p.Ser140= | |
| ENST00000682644.1:n.812C>T (BSCL2) | ||
| ENST00000682794.1:n.796+2767C>T (BSCL2) | ||
| ENST00000683025.1:c.420C>T (BSCL2) | ENSP00000507028.1:p.Ser140= | |
| ENST00000683296.1:c.420C>T (BSCL2) | ENSP00000507725.1:p.Ser140= | |
| ENST00000683494.1:n.812C>T (BSCL2) | ||
| ENST00000683892.1:n.922C>T (BSCL2) | ||
| ENST00000684067.1:c.420C>T (BSCL2) | ENSP00000506799.1:p.Ser140= | |
| ENST00000684115.1:n.812C>T (BSCL2) | ||
| ENST00000684285.1:c.404+2767C>T (BSCL2) | ENSP00000507669.1:n.404+2767C>T | |
| ENST00000684475.1:c.420C>T (BSCL2) | ENSP00000507429.1:p.Ser140= | |
| ENST00000684609.1:n.812C>T (BSCL2) | ||
| ENST00000684720.1:n.812C>T (BSCL2) | ||
| ENST00000360796.10:c.420C>T (BSCL2) MANE Select | ENSP00000354032.5:p.Ser140= | |
| ENST00000679883.1:c.420C>T (BSCL2) | ENSP00000505838.1:p.Ser140= | |
| ENST00000278893.11:c.228C>T (BSCL2) | ENSP00000278893.7:p.Ser76= | |
| ENST00000301781.10:c.420C>T (BSCL2) | ENSP00000301781.5:p.Ser140= | |
| ENST00000360796.9:c.420C>T (BSCL2) | ENSP00000354032.5:p.Ser140= | |
| ENST00000403550.5:c.228C>T (BSCL2) | ENSP00000385561.1:p.Ser76= | |
| ENST00000403734.2:c.*471C>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*471C>T | |
| ENST00000405837.5:c.420C>T (BSCL2) | ENSP00000385332.1:p.Ser140= | |
| ENST00000407022.7:c.228C>T (BSCL2) | ENSP00000384080.3:p.Ser76= | |
| ENST00000421906.5:c.228C>T (BSCL2) | ENSP00000413209.1:p.Ser76= | |
| ENST00000448568.6:c.228C>T (BSCL2) | ENSP00000413340.2:p.Ser76= | |
| ENST00000524862.5:c.420C>T (BSCL2) | ENSP00000433888.1:p.Ser140= | |
| ENST00000525000.5:c.52C>T (BSCL2) | ||
| ENST00000530900.1:n.220C>T (BSCL2) | ||
| ENST00000531524.5:c.87+4575C>T (BSCL2) | ENSP00000436026.1:n.87+4575C>T | |
| ENST00000533982.1:c.228C>T (BSCL2) | ENSP00000434149.1:p.Ser76= | |
| ENST00000537604.5:n.471C>T (BSCL2) | ||
| NM_001122955.3:c.420C>T (BSCL2) | NP_001116427.1:p.Ser140= | |
| NM_001130702.2:c.228C>T (BSCL2) | NP_001124174.2:p.Ser76= | |
| NM_032667.6:c.228C>T (BSCL2) | NP_116056.3:p.Ser76= | |
| NR_037946.1:n.2940C>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1022C>T (BSCL2) | ||
| NR_037949.1:n.1022C>T (BSCL2) | ||
| NM_001122955.4:c.420C>T (BSCL2) MANE Select | NP_001116427.1:p.Ser140= | |
| NM_001386027.1:c.420C>T (BSCL2) | NP_001372956.1:p.Ser140= | |
| NM_001386028.1:c.420C>T (BSCL2) | NP_001372957.1:p.Ser140= |