Linked Data
ClinVar Variation Id:
4543
ClinVar RCV Id:
RCV000004802
RCV000004801
RCV000168078
RCV000340485
RCV000507071
RCV001270680
RCV001813949
RCV001847582
RCV002426488
RCV003311646
dbSNP Id:
rs137852972
ExAC:
11:62469971 T / C
gnomAD v2:
11-62469971-T-C
gnomAD v4:
11-62702499-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62702499T>C , CM000673.2:g.62702499T>C | GRCh38 |
| NC_000011.9:g.62469971T>C , CM000673.1:g.62469971T>C | GRCh37 |
| NC_000011.8:g.62226547T>C | NCBI36 |
| NG_008461.1:g.12076A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449636.6:c.-38A>G (BSCL2) | ENSP00000405265.2:n.-38A>G | |
| ENST00000524862.6:c.455A>G (BSCL2) | ENSP00000433888.2:p.Asn152Ser | |
| ENST00000682003.1:n.633A>G (BSCL2) | ||
| ENST00000682223.1:c.455A>G (BSCL2) | ENSP00000508140.1:p.Asn152Ser | |
| ENST00000682262.1:c.455A>G (BSCL2) | ENSP00000507103.1:p.Asn152Ser | |
| ENST00000682555.1:c.455A>G (BSCL2) | ENSP00000507814.1:p.Asn152Ser | |
| ENST00000682644.1:n.847A>G (BSCL2) | ||
| ENST00000682794.1:n.796+2802A>G (BSCL2) | ||
| ENST00000683025.1:c.455A>G (BSCL2) | ENSP00000507028.1:p.Asn152Ser | |
| ENST00000683296.1:c.455A>G (BSCL2) | ENSP00000507725.1:p.Asn152Ser | |
| ENST00000683494.1:n.847A>G (BSCL2) | ||
| ENST00000683892.1:n.957A>G (BSCL2) | ||
| ENST00000684067.1:c.455A>G (BSCL2) | ENSP00000506799.1:p.Asn152Ser | |
| ENST00000684115.1:n.847A>G (BSCL2) | ||
| ENST00000684285.1:c.404+2802A>G (BSCL2) | ENSP00000507669.1:n.404+2802A>G | |
| ENST00000684475.1:c.455A>G (BSCL2) | ENSP00000507429.1:p.Asn152Ser | |
| ENST00000684609.1:n.847A>G (BSCL2) | ||
| ENST00000684720.1:n.847A>G (BSCL2) | ||
| ENST00000360796.10:c.455A>G (BSCL2) MANE Select | ENSP00000354032.5:p.Asn152Ser | |
| ENST00000679883.1:c.455A>G (BSCL2) | ENSP00000505838.1:p.Asn152Ser | |
| ENST00000278893.11:c.263A>G (BSCL2) | ENSP00000278893.7:p.Asn88Ser | |
| ENST00000301781.10:c.455A>G (BSCL2) | ENSP00000301781.5:p.Asn152Ser | |
| ENST00000360796.9:c.455A>G (BSCL2) | ENSP00000354032.5:p.Asn152Ser | |
| ENST00000403550.5:c.263A>G (BSCL2) | ENSP00000385561.1:p.Asn88Ser | |
| ENST00000403734.2:c.*506A>G (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*506A>G | |
| ENST00000405837.5:c.455A>G (BSCL2) | ENSP00000385332.1:p.Asn152Ser | |
| ENST00000407022.7:c.263A>G (BSCL2) | ENSP00000384080.3:p.Asn88Ser | |
| ENST00000421906.5:c.263A>G (BSCL2) | ENSP00000413209.1:p.Asn88Ser | |
| ENST00000448568.6:c.263A>G (BSCL2) | ENSP00000413340.2:p.Asn88Ser | |
| ENST00000524862.5:c.455A>G (BSCL2) | ENSP00000433888.1:p.Asn152Ser | |
| ENST00000525000.5:c.87A>G (BSCL2) | ||
| ENST00000530900.1:n.255A>G (BSCL2) | ||
| ENST00000531524.5:c.87+4610A>G (BSCL2) | ENSP00000436026.1:n.87+4610A>G | |
| ENST00000533982.1:c.263A>G (BSCL2) | ENSP00000434149.1:p.Asn88Ser | |
| ENST00000537604.5:n.506A>G (BSCL2) | ||
| NM_001122955.3:c.455A>G (BSCL2) | NP_001116427.1:p.Asn152Ser | |
| NM_001130702.2:c.263A>G (BSCL2) | NP_001124174.2:p.Asn88Ser | |
| NM_032667.6:c.263A>G (BSCL2) | NP_116056.3:p.Asn88Ser | |
| NR_037946.1:n.2975A>G (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1057A>G (BSCL2) | ||
| NR_037949.1:n.1057A>G (BSCL2) | ||
| NM_001122955.4:c.455A>G (BSCL2) MANE Select | NP_001116427.1:p.Asn152Ser | |
| NM_001386027.1:c.455A>G (BSCL2) | NP_001372956.1:p.Asn152Ser | |
| NM_001386028.1:c.455A>G (BSCL2) | NP_001372957.1:p.Asn152Ser |