Linked Data
ClinVar Variation Id:
143858
dbSNP Id:
rs587777606
ExAC:
11:62458772 G / A
gnomAD v2:
11-62458772-G-A
gnomAD v3:
11-62691300-G-A
gnomAD v4:
11-62691300-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62691300G>A , CM000673.2:g.62691300G>A | GRCh38 |
| NC_000011.9:g.62458772G>A , CM000673.1:g.62458772G>A | GRCh37 |
| NC_000011.8:g.62215348G>A | NCBI36 |
| NG_008461.1:g.23275C>T | |
| NG_033077.1:g.3600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1177C>T (BSCL2) | ||
| ENST00000449636.6:c.493C>T (BSCL2) | ENSP00000405265.2:p.Arg165Ter | |
| ENST00000463679.6:n.630C>T (BSCL2) | ||
| ENST00000524862.6:c.985C>T (BSCL2) | ENSP00000433888.2:p.Arg329Ter | |
| ENST00000682003.1:n.1028C>T (BSCL2) | ||
| ENST00000682223.1:c.985C>T (BSCL2) | ENSP00000508140.1:p.Arg329Ter | |
| ENST00000682262.1:c.752C>T (BSCL2) | ENSP00000507103.1:p.Pro251Leu | |
| ENST00000682555.1:c.*96C>T (BSCL2) | ENSP00000507814.1:n.*96C>T | |
| ENST00000682644.1:n.1377C>T (BSCL2) | ||
| ENST00000682794.1:n.1295C>T (BSCL2) | ||
| ENST00000683025.1:c.*632C>T (BSCL2) | ENSP00000507028.1:n.*632C>T | |
| ENST00000683193.1:n.567C>T (BSCL2) | ||
| ENST00000683296.1:c.985C>T (BSCL2) | ENSP00000507725.1:p.Arg329Ter | |
| ENST00000683368.1:n.1176C>T (BSCL2) | ||
| ENST00000683494.1:n.2520C>T (BSCL2) | ||
| ENST00000683846.1:n.1325C>T (BSCL2) | ||
| ENST00000683892.1:n.1487C>T (BSCL2) | ||
| ENST00000684067.1:c.985C>T (BSCL2) | ENSP00000506799.1:p.Arg329Ter | |
| ENST00000684115.1:n.1566C>T (BSCL2) | ||
| ENST00000684258.1:n.1413C>T (BSCL2) | ||
| ENST00000684285.1:c.*492C>T (BSCL2) | ENSP00000507669.1:n.*492C>T | |
| ENST00000684475.1:c.850C>T (BSCL2) | ENSP00000507429.1:p.Arg284Ter | |
| ENST00000684609.1:n.1377C>T (BSCL2) | ||
| ENST00000684720.1:n.2331C>T (BSCL2) | ||
| ENST00000360796.10:c.985C>T (BSCL2) MANE Select | ENSP00000354032.5:p.Arg329Ter | |
| ENST00000679883.1:c.985C>T (BSCL2) | ENSP00000505838.1:p.Arg329Ter | |
| ENST00000278893.11:c.672-159C>T (BSCL2) | ENSP00000278893.7:n.672-159C>T | |
| ENST00000301781.10:c.*96C>T (BSCL2) | ENSP00000301781.5:n.*96C>T | |
| ENST00000360796.9:c.985C>T (BSCL2) | ENSP00000354032.5:p.Arg329Ter | |
| ENST00000403098.6:c.186-879C>T (BSCL2) | ENSP00000384258.2:n.186-879C>T | |
| ENST00000403550.5:c.793C>T (BSCL2) | ENSP00000385561.1:p.Arg265Ter | |
| ENST00000403734.2:c.*1036C>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1036C>T | |
| ENST00000405837.5:c.985C>T (BSCL2) | ENSP00000385332.1:p.Arg329Ter | |
| ENST00000407022.7:c.793C>T (BSCL2) | ENSP00000384080.3:p.Arg265Ter | |
| ENST00000421906.5:c.793C>T (BSCL2) | ENSP00000413209.1:p.Arg265Ter | |
| ENST00000449636.5:c.40C>T (BSCL2) | ENSP00000405265.1:p.Arg14Ter | |
| ENST00000463679.5:n.43C>T (BSCL2) | ||
| ENST00000468505.5:n.355C>T (BSCL2) | ||
| NM_001122955.3:c.985C>T (BSCL2) | NP_001116427.1:p.Arg329Ter | |
| NM_001130702.2:c.672-159C>T (BSCL2) | NP_001124174.2:n.672-159C>T | |
| NM_032667.6:c.793C>T (BSCL2) | NP_116056.3:p.Arg265Ter | |
| NR_037946.1:n.3505C>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1587C>T (BSCL2) | ||
| NR_037949.1:n.1587C>T (BSCL2) | ||
| NM_001122955.4:c.985C>T (BSCL2) MANE Select | NP_001116427.1:p.Arg329Ter | |
| NM_001386027.1:c.985C>T (BSCL2) | NP_001372956.1:p.Arg329Ter | |
| NM_001386028.1:c.985C>T (BSCL2) | NP_001372957.1:p.Arg329Ter |