Linked Data
ClinVar Variation Id:
210544
dbSNP Id:
rs367731146
ExAC:
11:62458748 C / A
gnomAD v2:
11-62458748-C-A
gnomAD v3:
11-62691276-C-A
gnomAD v4:
11-62691276-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62691276C>A , CM000673.2:g.62691276C>A | GRCh38 |
| NC_000011.9:g.62458748C>A , CM000673.1:g.62458748C>A | GRCh37 |
| NC_000011.8:g.62215324C>A | NCBI36 |
| NG_008461.1:g.23299G>T | |
| NG_033077.1:g.3624G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1201G>T (BSCL2) | ||
| ENST00000449636.6:c.513+4G>T (BSCL2) | ENSP00000405265.2:n.513+4G>T | |
| ENST00000463679.6:n.654G>T (BSCL2) | ||
| ENST00000524862.6:c.1005+4G>T (BSCL2) | ENSP00000433888.2:n.1005+4G>T | |
| ENST00000682003.1:n.1052G>T (BSCL2) | ||
| ENST00000682223.1:c.1005+4G>T (BSCL2) | ENSP00000508140.1:n.1005+4G>T | |
| ENST00000682262.1:c.776G>T (BSCL2) | ENSP00000507103.1:p.Arg259Leu | |
| ENST00000682555.1:c.*116+4G>T (BSCL2) | ENSP00000507814.1:n.*116+4G>T | |
| ENST00000682644.1:n.1401G>T (BSCL2) | ||
| ENST00000682794.1:n.1315+4G>T (BSCL2) | ||
| ENST00000683025.1:c.*656G>T (BSCL2) | ENSP00000507028.1:n.*656G>T | |
| ENST00000683193.1:n.591G>T (BSCL2) | ||
| ENST00000683296.1:c.1005+4G>T (BSCL2) | ENSP00000507725.1:n.1005+4G>T | |
| ENST00000683368.1:n.1196+4G>T (BSCL2) | ||
| ENST00000683494.1:n.2544G>T (BSCL2) | ||
| ENST00000683846.1:n.1345+4G>T (BSCL2) | ||
| ENST00000683892.1:n.1511G>T (BSCL2) | ||
| ENST00000684067.1:c.1005+4G>T (BSCL2) | ENSP00000506799.1:n.1005+4G>T | |
| ENST00000684115.1:n.1586+4G>T (BSCL2) | ||
| ENST00000684258.1:n.1437G>T (BSCL2) | ||
| ENST00000684285.1:c.*512+4G>T (BSCL2) | ENSP00000507669.1:n.*512+4G>T | |
| ENST00000684475.1:c.870+4G>T (BSCL2) | ENSP00000507429.1:n.870+4G>T | |
| ENST00000684609.1:n.1401G>T (BSCL2) | ||
| ENST00000684720.1:n.2355G>T (BSCL2) | ||
| ENST00000360796.10:c.1005+4G>T (BSCL2) MANE Select | ENSP00000354032.5:n.1005+4G>T | |
| ENST00000679883.1:c.1005+4G>T (BSCL2) | ENSP00000505838.1:n.1005+4G>T | |
| ENST00000278893.11:c.672-135G>T (BSCL2) | ENSP00000278893.7:n.672-135G>T | |
| ENST00000301781.10:c.*116+4G>T (BSCL2) | ENSP00000301781.5:n.*116+4G>T | |
| ENST00000360796.9:c.1005+4G>T (BSCL2) | ENSP00000354032.5:n.1005+4G>T | |
| ENST00000403098.6:c.186-855G>T (BSCL2) | ENSP00000384258.2:n.186-855G>T | |
| ENST00000403550.5:c.813+4G>T (BSCL2) | ENSP00000385561.1:n.813+4G>T | |
| ENST00000403734.2:c.*1056+4G>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1056+4G>T | |
| ENST00000405837.5:c.1005+4G>T (BSCL2) | ENSP00000385332.1:n.1005+4G>T | |
| ENST00000407022.7:c.813+4G>T (BSCL2) | ENSP00000384080.3:n.813+4G>T | |
| ENST00000421906.5:c.813+4G>T (BSCL2) | ENSP00000413209.1:n.813+4G>T | |
| ENST00000449636.5:c.60+4G>T (BSCL2) | ENSP00000405265.1:n.60+4G>T | |
| ENST00000463679.5:n.67G>T (BSCL2) | ||
| ENST00000468505.5:n.375+4G>T (BSCL2) | ||
| NM_001122955.3:c.1005+4G>T (BSCL2) | NP_001116427.1:n.1005+4G>T | |
| NM_001130702.2:c.672-135G>T (BSCL2) | NP_001124174.2:n.672-135G>T | |
| NM_032667.6:c.813+4G>T (BSCL2) | NP_116056.3:n.813+4G>T | |
| NR_037946.1:n.3525+4G>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1607+4G>T (BSCL2) | ||
| NR_037949.1:n.1607+4G>T (BSCL2) | ||
| NM_001122955.4:c.1005+4G>T (BSCL2) MANE Select | NP_001116427.1:n.1005+4G>T | |
| NM_001386027.1:c.1005+4G>T (BSCL2) | NP_001372956.1:n.1005+4G>T | |
| NM_001386028.1:c.1005+4G>T (BSCL2) | NP_001372957.1:n.1005+4G>T |