Linked Data
ClinVar Variation Id:
220467
ClinVar RCV Id:
RCV000276983
RCV000329673
RCV000427504
RCV000727441
RCV001087921
RCV002372202
RCV001847934
dbSNP Id:
rs369806785
ExAC:
11:62462082 G / A
gnomAD v2:
11-62462082-G-A
gnomAD v3:
11-62694610-G-A
gnomAD v4:
11-62694610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62694610G>A , CM000673.2:g.62694610G>A | GRCh38 |
| NC_000011.9:g.62462082G>A , CM000673.1:g.62462082G>A | GRCh37 |
| NC_000011.8:g.62218658G>A | NCBI36 |
| NG_008461.1:g.19965C>T | |
| NG_033077.1:g.290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.780C>T (BSCL2) | ||
| ENST00000449636.6:c.96C>T (BSCL2) | ENSP00000405265.2:p.Cys32= | |
| ENST00000524862.6:c.588C>T (BSCL2) | ENSP00000433888.2:p.Cys196= | |
| ENST00000682003.1:n.766C>T (BSCL2) | ||
| ENST00000682223.1:c.588C>T (BSCL2) | ENSP00000508140.1:p.Cys196= | |
| ENST00000682262.1:c.588C>T (BSCL2) | ENSP00000507103.1:p.Cys196= | |
| ENST00000682555.1:c.588C>T (BSCL2) | ENSP00000507814.1:p.Cys196= | |
| ENST00000682644.1:n.980C>T (BSCL2) | ||
| ENST00000682794.1:n.898C>T (BSCL2) | ||
| ENST00000683025.1:c.*235C>T (BSCL2) | ENSP00000507028.1:n.*235C>T | |
| ENST00000683296.1:c.588C>T (BSCL2) | ENSP00000507725.1:p.Cys196= | |
| ENST00000683368.1:n.779C>T (BSCL2) | ||
| ENST00000683494.1:n.980C>T (BSCL2) | ||
| ENST00000683846.1:n.928C>T (BSCL2) | ||
| ENST00000683892.1:n.1090C>T (BSCL2) | ||
| ENST00000684067.1:c.588C>T (BSCL2) | ENSP00000506799.1:p.Cys196= | |
| ENST00000684115.1:n.980C>T (BSCL2) | ||
| ENST00000684258.1:n.1016C>T (BSCL2) | ||
| ENST00000684285.1:c.*95C>T (BSCL2) | ENSP00000507669.1:n.*95C>T | |
| ENST00000684475.1:c.588C>T (BSCL2) | ENSP00000507429.1:p.Cys196= | |
| ENST00000684609.1:n.980C>T (BSCL2) | ||
| ENST00000684720.1:n.980C>T (BSCL2) | ||
| ENST00000360796.10:c.588C>T (BSCL2) MANE Select | ENSP00000354032.5:p.Cys196= | |
| ENST00000679883.1:c.588C>T (BSCL2) | ENSP00000505838.1:p.Cys196= | |
| ENST00000278893.11:c.396C>T (BSCL2) | ENSP00000278893.7:p.Cys132= | |
| ENST00000301781.10:c.588C>T (BSCL2) | ENSP00000301781.5:p.Cys196= | |
| ENST00000360796.9:c.588C>T (BSCL2) | ENSP00000354032.5:p.Cys196= | |
| ENST00000403550.5:c.396C>T (BSCL2) | ENSP00000385561.1:p.Cys132= | |
| ENST00000403734.2:c.*639C>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*639C>T | |
| ENST00000405837.5:c.588C>T (BSCL2) | ENSP00000385332.1:p.Cys196= | |
| ENST00000407022.7:c.396C>T (BSCL2) | ENSP00000384080.3:p.Cys132= | |
| ENST00000412351.1:n.186C>T (BSCL2) | ||
| ENST00000421906.5:c.396C>T (BSCL2) | ENSP00000413209.1:p.Cys132= | |
| ENST00000448568.6:c.396C>T (BSCL2) | ENSP00000413340.2:p.Cys132= | |
| ENST00000524862.5:c.588C>T (BSCL2) | ENSP00000433888.1:p.Cys196= | |
| ENST00000526426.1:n.103C>T (BSCL2) | ||
| ENST00000530900.1:n.388C>T (BSCL2) | ||
| ENST00000531524.5:c.189C>T (BSCL2) | ENSP00000436026.1:p.Cys63= | |
| ENST00000532115.5:n.102C>T (BSCL2) | ||
| ENST00000537604.5:n.639C>T (BSCL2) | ||
| NM_001122955.3:c.588C>T (BSCL2) | NP_001116427.1:p.Cys196= | |
| NM_001130702.2:c.396C>T (BSCL2) | NP_001124174.2:p.Cys132= | |
| NM_032667.6:c.396C>T (BSCL2) | NP_116056.3:p.Cys132= | |
| NR_037946.1:n.3108C>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1190C>T (BSCL2) | ||
| NR_037949.1:n.1190C>T (BSCL2) | ||
| NM_001122955.4:c.588C>T (BSCL2) MANE Select | NP_001116427.1:p.Cys196= | |
| NM_001386027.1:c.588C>T (BSCL2) | NP_001372956.1:p.Cys196= | |
| NM_001386028.1:c.588C>T (BSCL2) | NP_001372957.1:p.Cys196= |