Linked Data
ClinVar Variation Id:
4544
ClinVar RCV Id:
RCV000004803
RCV000235980
RCV000547334
RCV000755016
RCV001270681
RCV001813950
RCV003311647
dbSNP Id:
rs137852973
gnomAD v3:
11-62702493-G-A
gnomAD v4:
11-62702493-G-A
PubMed:
PMID:14981520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62702493G>A , CM000673.2:g.62702493G>A | GRCh38 |
| NC_000011.9:g.62469965G>A , CM000673.1:g.62469965G>A | GRCh37 |
| NC_000011.8:g.62226541G>A | NCBI36 |
| NG_008461.1:g.12082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449636.6:c.-32C>T (BSCL2) | ENSP00000405265.2:n.-32C>T | |
| ENST00000524862.6:c.461C>T (BSCL2) | ENSP00000433888.2:p.Ser154Leu | |
| ENST00000682003.1:n.639C>T (BSCL2) | ||
| ENST00000682223.1:c.461C>T (BSCL2) | ENSP00000508140.1:p.Ser154Leu | |
| ENST00000682262.1:c.461C>T (BSCL2) | ENSP00000507103.1:p.Ser154Leu | |
| ENST00000682555.1:c.461C>T (BSCL2) | ENSP00000507814.1:p.Ser154Leu | |
| ENST00000682644.1:n.853C>T (BSCL2) | ||
| ENST00000682794.1:n.796+2808C>T (BSCL2) | ||
| ENST00000683025.1:c.461C>T (BSCL2) | ENSP00000507028.1:p.Ser154Leu | |
| ENST00000683296.1:c.461C>T (BSCL2) | ENSP00000507725.1:p.Ser154Leu | |
| ENST00000683494.1:n.853C>T (BSCL2) | ||
| ENST00000683892.1:n.963C>T (BSCL2) | ||
| ENST00000684067.1:c.461C>T (BSCL2) | ENSP00000506799.1:p.Ser154Leu | |
| ENST00000684115.1:n.853C>T (BSCL2) | ||
| ENST00000684285.1:c.404+2808C>T (BSCL2) | ENSP00000507669.1:n.404+2808C>T | |
| ENST00000684475.1:c.461C>T (BSCL2) | ENSP00000507429.1:p.Ser154Leu | |
| ENST00000684609.1:n.853C>T (BSCL2) | ||
| ENST00000684720.1:n.853C>T (BSCL2) | ||
| ENST00000360796.10:c.461C>T (BSCL2) MANE Select | ENSP00000354032.5:p.Ser154Leu | |
| ENST00000679883.1:c.461C>T (BSCL2) | ENSP00000505838.1:p.Ser154Leu | |
| ENST00000278893.11:c.269C>T (BSCL2) | ENSP00000278893.7:p.Ser90Leu | |
| ENST00000301781.10:c.461C>T (BSCL2) | ENSP00000301781.5:p.Ser154Leu | |
| ENST00000360796.9:c.461C>T (BSCL2) | ENSP00000354032.5:p.Ser154Leu | |
| ENST00000403550.5:c.269C>T (BSCL2) | ENSP00000385561.1:p.Ser90Leu | |
| ENST00000403734.2:c.*512C>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*512C>T | |
| ENST00000405837.5:c.461C>T (BSCL2) | ENSP00000385332.1:p.Ser154Leu | |
| ENST00000407022.7:c.269C>T (BSCL2) | ENSP00000384080.3:p.Ser90Leu | |
| ENST00000421906.5:c.269C>T (BSCL2) | ENSP00000413209.1:p.Ser90Leu | |
| ENST00000448568.6:c.269C>T (BSCL2) | ENSP00000413340.2:p.Ser90Leu | |
| ENST00000524862.5:c.461C>T (BSCL2) | ENSP00000433888.1:p.Ser154Leu | |
| ENST00000525000.5:c.93C>T (BSCL2) | ||
| ENST00000530900.1:n.261C>T (BSCL2) | ||
| ENST00000531524.5:c.87+4616C>T (BSCL2) | ENSP00000436026.1:n.87+4616C>T | |
| ENST00000533982.1:c.269C>T (BSCL2) | ENSP00000434149.1:p.Ser90Leu | |
| ENST00000537604.5:n.512C>T (BSCL2) | ||
| NM_001122955.3:c.461C>T (BSCL2) | NP_001116427.1:p.Ser154Leu | |
| NM_001130702.2:c.269C>T (BSCL2) | NP_001124174.2:p.Ser90Leu | |
| NM_032667.6:c.269C>T (BSCL2) | NP_116056.3:p.Ser90Leu | |
| NR_037946.1:n.2981C>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1063C>T (BSCL2) | ||
| NR_037949.1:n.1063C>T (BSCL2) | ||
| NM_001122955.4:c.461C>T (BSCL2) MANE Select | NP_001116427.1:p.Ser154Leu | |
| NM_001386027.1:c.461C>T (BSCL2) | NP_001372956.1:p.Ser154Leu | |
| NM_001386028.1:c.461C>T (BSCL2) | NP_001372957.1:p.Ser154Leu |