Linked Data
ClinVar Variation Id:
305190
dbSNP Id:
rs117862461
gnomAD v2:
11-62473752-C-T
gnomAD v3:
11-62706280-C-T
gnomAD v4:
11-62706280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62706280C>T , CM000673.2:g.62706280C>T | GRCh38 |
| NC_000011.9:g.62473752C>T , CM000673.1:g.62473752C>T | GRCh37 |
| NC_000011.8:g.62230328C>T | NCBI36 |
| NG_008461.1:g.8295G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449636.6:c.-89+829G>A (BSCL2) | ENSP00000405265.2:n.-89+829G>A | |
| ENST00000524862.6:c.88-663G>A (BSCL2) | ENSP00000433888.2:n.88-663G>A | |
| ENST00000682223.1:c.88-663G>A (BSCL2) | ENSP00000508140.1:n.88-663G>A | |
| ENST00000682262.1:c.88-663G>A (BSCL2) | ENSP00000507103.1:n.88-663G>A | |
| ENST00000682555.1:c.88-663G>A (BSCL2) | ENSP00000507814.1:n.88-663G>A | |
| ENST00000682644.1:n.480-663G>A (BSCL2) | ||
| ENST00000682794.1:n.480-663G>A (BSCL2) | ||
| ENST00000683025.1:c.88-663G>A (BSCL2) | ENSP00000507028.1:n.88-663G>A | |
| ENST00000683296.1:c.88-663G>A (BSCL2) | ENSP00000507725.1:n.88-663G>A | |
| ENST00000683494.1:n.480-663G>A (BSCL2) | ||
| ENST00000683892.1:n.590-663G>A (BSCL2) | ||
| ENST00000684067.1:c.88-663G>A (BSCL2) | ENSP00000506799.1:n.88-663G>A | |
| ENST00000684115.1:n.480-663G>A (BSCL2) | ||
| ENST00000684285.1:c.88-663G>A (BSCL2) | ENSP00000507669.1:n.88-663G>A | |
| ENST00000684475.1:c.88-663G>A (BSCL2) | ENSP00000507429.1:n.88-663G>A | |
| ENST00000684609.1:n.480-663G>A (BSCL2) | ||
| ENST00000684720.1:n.480-663G>A (BSCL2) | ||
| ENST00000360796.10:c.88-663G>A (BSCL2) MANE Select | ENSP00000354032.5:n.88-663G>A | |
| ENST00000679883.1:c.88-663G>A (BSCL2) | ENSP00000505838.1:n.88-663G>A | |
| ENST00000278893.11:c.-183G>A (BSCL2) | ENSP00000278893.7:n.-183G>A | |
| ENST00000301781.10:c.88-663G>A (BSCL2) | ENSP00000301781.5:n.88-663G>A | |
| ENST00000360796.9:c.88-663G>A (BSCL2) | ENSP00000354032.5:n.88-663G>A | |
| ENST00000403734.2:c.*139-663G>A (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*139-663G>A | |
| ENST00000405837.5:c.88-663G>A (BSCL2) | ENSP00000385332.1:n.88-663G>A | |
| ENST00000407022.7:c.-183G>A (BSCL2) | ENSP00000384080.3:n.-183G>A | |
| ENST00000413908.1:c.*66+333G>A (BSCL2) | ENSP00000393728.1:n.*66+333G>A | |
| ENST00000421906.5:c.-127G>A (BSCL2) | ENSP00000413209.1:n.-127G>A | |
| ENST00000464544.1:c.88-663G>A (BSCL2) | ENSP00000431782.1:n.88-663G>A | |
| ENST00000524862.5:c.88-663G>A (BSCL2) | ENSP00000433888.1:n.88-663G>A | |
| ENST00000525000.5:c.36+829G>A (BSCL2) | ||
| ENST00000531524.5:c.87+829G>A (BSCL2) | ENSP00000436026.1:n.87+829G>A | |
| ENST00000532818.5:c.88-663G>A (BSCL2) | ENSP00000435831.1:n.88-663G>A | |
| ENST00000533982.1:c.-46-722G>A (BSCL2) | ENSP00000434149.1:n.-46-722G>A | |
| NM_001122955.3:c.88-663G>A (BSCL2) | NP_001116427.1:n.88-663G>A | |
| NM_001130702.2:c.-183G>A (BSCL2) | NP_001124174.2:n.-183G>A | |
| NM_032667.6:c.-183G>A (BSCL2) | NP_116056.3:n.-183G>A | |
| NR_037946.1:n.2608-663G>A (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.690-663G>A (BSCL2) | ||
| NR_037949.1:n.690-663G>A (BSCL2) | ||
| NM_001122955.4:c.88-663G>A (BSCL2) MANE Select | NP_001116427.1:n.88-663G>A | |
| NM_001386027.1:c.88-663G>A (BSCL2) | NP_001372956.1:n.88-663G>A | |
| NM_001386028.1:c.88-663G>A (BSCL2) | NP_001372957.1:n.88-663G>A |