Linked Data
ClinVar Variation Id:
246574
dbSNP Id:
rs10776
ExAC:
11:62460155 C / T
gnomAD v2:
11-62460155-C-T
gnomAD v3:
11-62692683-C-T
gnomAD v4:
11-62692683-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62692683C>T , CM000673.2:g.62692683C>T | GRCh38 |
| NC_000011.9:g.62460155C>T , CM000673.1:g.62460155C>T | GRCh37 |
| NC_000011.8:g.62216731C>T | NCBI36 |
| NG_008461.1:g.21892G>A | |
| NG_033077.1:g.2217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.937G>A (BSCL2) | ||
| ENST00000449636.6:c.253G>A (BSCL2) | ENSP00000405265.2:p.Ala85Thr | |
| ENST00000524862.6:c.745G>A (BSCL2) | ENSP00000433888.2:p.Ala249Thr | |
| ENST00000682003.1:n.809-210G>A (BSCL2) | ||
| ENST00000682223.1:c.745G>A (BSCL2) | ENSP00000508140.1:p.Ala249Thr | |
| ENST00000682262.1:c.631-1262G>A (BSCL2) | ENSP00000507103.1:n.631-1262G>A | |
| ENST00000682555.1:c.663G>A (BSCL2) | ENSP00000507814.1:p.Thr221= | |
| ENST00000682644.1:n.1137G>A (BSCL2) | ||
| ENST00000682794.1:n.1055G>A (BSCL2) | ||
| ENST00000683025.1:c.*392G>A (BSCL2) | ENSP00000507028.1:n.*392G>A | |
| ENST00000683296.1:c.745G>A (BSCL2) | ENSP00000507725.1:p.Ala249Thr | |
| ENST00000683368.1:n.936G>A (BSCL2) | ||
| ENST00000683494.1:n.1137G>A (BSCL2) | ||
| ENST00000683846.1:n.1085G>A (BSCL2) | ||
| ENST00000683892.1:n.1247G>A (BSCL2) | ||
| ENST00000684067.1:c.745G>A (BSCL2) | ENSP00000506799.1:p.Ala249Thr | |
| ENST00000684115.1:n.1137G>A (BSCL2) | ||
| ENST00000684258.1:n.1173G>A (BSCL2) | ||
| ENST00000684285.1:c.*252G>A (BSCL2) | ENSP00000507669.1:n.*252G>A | |
| ENST00000684475.1:c.631-210G>A (BSCL2) | ENSP00000507429.1:n.631-210G>A | |
| ENST00000684609.1:n.1137G>A (BSCL2) | ||
| ENST00000684720.1:n.1137G>A (BSCL2) | ||
| ENST00000360796.10:c.745G>A (BSCL2) MANE Select | ENSP00000354032.5:p.Ala249Thr | |
| ENST00000679883.1:c.745G>A (BSCL2) | ENSP00000505838.1:p.Ala249Thr | |
| ENST00000278893.11:c.553G>A (BSCL2) | ENSP00000278893.7:p.Ala185Thr | |
| ENST00000301781.10:c.690G>A (BSCL2) | ENSP00000301781.5:p.Thr230= | |
| ENST00000360796.9:c.745G>A (BSCL2) | ENSP00000354032.5:p.Ala249Thr | |
| ENST00000403098.6:c.67G>A (BSCL2) | ENSP00000384258.2:p.Ala23Thr | |
| ENST00000403550.5:c.553G>A (BSCL2) | ENSP00000385561.1:p.Ala185Thr | |
| ENST00000403734.2:c.*796G>A (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*796G>A | |
| ENST00000405837.5:c.745G>A (BSCL2) | ENSP00000385332.1:p.Ala249Thr | |
| ENST00000407022.7:c.553G>A (BSCL2) | ENSP00000384080.3:p.Ala185Thr | |
| ENST00000412351.1:n.343G>A (BSCL2) | ||
| ENST00000421906.5:c.553G>A (BSCL2) | ENSP00000413209.1:p.Ala185Thr | |
| ENST00000448568.6:c.553G>A (BSCL2) | ENSP00000413340.2:p.Ala185Thr | |
| ENST00000468505.5:n.115G>A (BSCL2) | ||
| ENST00000526426.1:n.260G>A (BSCL2) | ||
| ENST00000532115.5:n.145-210G>A (BSCL2) | ||
| NM_001122955.3:c.745G>A (BSCL2) | NP_001116427.1:p.Ala249Thr | |
| NM_001130702.2:c.553G>A (BSCL2) | NP_001124174.2:p.Ala185Thr | |
| NM_032667.6:c.553G>A (BSCL2) | NP_116056.3:p.Ala185Thr | |
| NR_037946.1:n.3265G>A (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1347G>A (BSCL2) | ||
| NR_037949.1:n.1347G>A (BSCL2) | ||
| NM_001122955.4:c.745G>A (BSCL2) MANE Select | NP_001116427.1:p.Ala249Thr | |
| NM_001386027.1:c.745G>A (BSCL2) | NP_001372956.1:p.Ala249Thr | |
| NM_001386028.1:c.745G>A (BSCL2) | NP_001372957.1:p.Ala249Thr |