Linked Data
ClinVar Variation Id:
305176
ClinVar RCV Id:
RCV000292822
RCV000350116
RCV000422175
RCV000560796
RCV001700048
RCV002365350
RCV003950022
dbSNP Id:
rs370926100
ExAC:
11:62459850 G / A
gnomAD v2:
11-62459850-G-A
gnomAD v3:
11-62692378-G-A
gnomAD v4:
11-62692378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62692378G>A , CM000673.2:g.62692378G>A | GRCh38 |
| NC_000011.9:g.62459850G>A , CM000673.1:g.62459850G>A | GRCh37 |
| NC_000011.8:g.62216426G>A | NCBI36 |
| NG_008461.1:g.22197C>T | |
| NG_033077.1:g.2522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1053C>T (BSCL2) | ||
| ENST00000449636.6:c.369C>T (BSCL2) | ENSP00000405265.2:p.Leu123= | |
| ENST00000524862.6:c.861C>T (BSCL2) | ENSP00000433888.2:p.Leu287= | |
| ENST00000682003.1:n.904C>T (BSCL2) | ||
| ENST00000682223.1:c.861C>T (BSCL2) | ENSP00000508140.1:p.Leu287= | |
| ENST00000682262.1:c.631-957C>T (BSCL2) | ENSP00000507103.1:n.631-957C>T | |
| ENST00000682555.1:c.779C>T (BSCL2) | ENSP00000507814.1:p.Ser260Leu | |
| ENST00000682644.1:n.1253C>T (BSCL2) | ||
| ENST00000682794.1:n.1171C>T (BSCL2) | ||
| ENST00000683025.1:c.*508C>T (BSCL2) | ENSP00000507028.1:n.*508C>T | |
| ENST00000683296.1:c.861C>T (BSCL2) | ENSP00000507725.1:p.Leu287= | |
| ENST00000683368.1:n.1052C>T (BSCL2) | ||
| ENST00000683494.1:n.1442C>T (BSCL2) | ||
| ENST00000683846.1:n.1201C>T (BSCL2) | ||
| ENST00000683892.1:n.1363C>T (BSCL2) | ||
| ENST00000684067.1:c.861C>T (BSCL2) | ENSP00000506799.1:p.Leu287= | |
| ENST00000684115.1:n.1442C>T (BSCL2) | ||
| ENST00000684258.1:n.1289C>T (BSCL2) | ||
| ENST00000684285.1:c.*368C>T (BSCL2) | ENSP00000507669.1:n.*368C>T | |
| ENST00000684475.1:c.726C>T (BSCL2) | ENSP00000507429.1:p.Leu242= | |
| ENST00000684609.1:n.1253C>T (BSCL2) | ||
| ENST00000684720.1:n.1253C>T (BSCL2) | ||
| ENST00000360796.10:c.861C>T (BSCL2) MANE Select | ENSP00000354032.5:p.Leu287= | |
| ENST00000679883.1:c.861C>T (BSCL2) | ENSP00000505838.1:p.Leu287= | |
| ENST00000278893.11:c.669C>T (BSCL2) | ENSP00000278893.7:p.Leu223= | |
| ENST00000301781.10:c.806C>T (BSCL2) | ENSP00000301781.5:p.Ser269Leu | |
| ENST00000360796.9:c.861C>T (BSCL2) | ENSP00000354032.5:p.Leu287= | |
| ENST00000403098.6:c.183C>T (BSCL2) | ENSP00000384258.2:p.Leu61= | |
| ENST00000403550.5:c.669C>T (BSCL2) | ENSP00000385561.1:p.Leu223= | |
| ENST00000403734.2:c.*912C>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*912C>T | |
| ENST00000405837.5:c.861C>T (BSCL2) | ENSP00000385332.1:p.Leu287= | |
| ENST00000407022.7:c.669C>T (BSCL2) | ENSP00000384080.3:p.Leu223= | |
| ENST00000412351.1:n.459C>T (BSCL2) | ||
| ENST00000421906.5:c.669C>T (BSCL2) | ENSP00000413209.1:p.Leu223= | |
| ENST00000448568.6:c.669C>T (BSCL2) | ENSP00000413340.2:p.Leu223= | |
| ENST00000468505.5:n.231C>T (BSCL2) | ||
| ENST00000532115.5:n.240C>T (BSCL2) | ||
| NM_001122955.3:c.861C>T (BSCL2) | NP_001116427.1:p.Leu287= | |
| NM_001130702.2:c.669C>T (BSCL2) | NP_001124174.2:p.Leu223= | |
| NM_032667.6:c.669C>T (BSCL2) | NP_116056.3:p.Leu223= | |
| NR_037946.1:n.3381C>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1463C>T (BSCL2) | ||
| NR_037949.1:n.1463C>T (BSCL2) | ||
| NM_001122955.4:c.861C>T (BSCL2) MANE Select | NP_001116427.1:p.Leu287= | |
| NM_001386027.1:c.861C>T (BSCL2) | NP_001372956.1:p.Leu287= | |
| NM_001386028.1:c.861C>T (BSCL2) | NP_001372957.1:p.Leu287= |