Linked Data
ClinVar Variation Id:
210545
ClinVar RCV Id:
RCV000192598
RCV001083233
RCV001174400
RCV000766869
RCV002467651
RCV002433863
RCV003884385
dbSNP Id:
rs140676897
ExAC:
11:62458588 G / A
gnomAD v2:
11-62458588-G-A
gnomAD v3:
11-62691116-G-A
gnomAD v4:
11-62691116-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62691116G>A , CM000673.2:g.62691116G>A | GRCh38 |
| NC_000011.9:g.62458588G>A , CM000673.1:g.62458588G>A | GRCh37 |
| NC_000011.8:g.62215164G>A | NCBI36 |
| NG_008461.1:g.23459C>T | |
| NG_033077.1:g.3784C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1361C>T (BSCL2) | ||
| ENST00000449636.6:c.539C>T (BSCL2) | ENSP00000405265.2:p.Ser180Phe | |
| ENST00000463679.6:n.814C>T (BSCL2) | ||
| ENST00000524862.6:c.1031C>T (BSCL2) | ENSP00000433888.2:p.Ser344Phe | |
| ENST00000682003.1:n.1212C>T (BSCL2) | ||
| ENST00000682223.1:c.1031C>T (BSCL2) | ENSP00000508140.1:p.Ser344Phe | |
| ENST00000682262.1:c.*93C>T (BSCL2) | ENSP00000507103.1:n.*93C>T | |
| ENST00000682555.1:c.*142C>T (BSCL2) | ENSP00000507814.1:n.*142C>T | |
| ENST00000682644.1:n.1561C>T (BSCL2) | ||
| ENST00000682794.1:n.1341C>T (BSCL2) | ||
| ENST00000683025.1:c.*816C>T (BSCL2) | ENSP00000507028.1:n.*816C>T | |
| ENST00000683193.1:n.751C>T (BSCL2) | ||
| ENST00000683296.1:c.1031C>T (BSCL2) | ENSP00000507725.1:p.Ser344Phe | |
| ENST00000683368.1:n.1222C>T (BSCL2) | ||
| ENST00000683494.1:n.2704C>T (BSCL2) | ||
| ENST00000683846.1:n.1371C>T (BSCL2) | ||
| ENST00000683892.1:n.1671C>T (BSCL2) | ||
| ENST00000684067.1:c.1031C>T (BSCL2) | ENSP00000506799.1:p.Ser344Phe | |
| ENST00000684115.1:n.1612C>T (BSCL2) | ||
| ENST00000684258.1:n.1597C>T (BSCL2) | ||
| ENST00000684285.1:c.*538C>T (BSCL2) | ENSP00000507669.1:n.*538C>T | |
| ENST00000684475.1:c.896C>T (BSCL2) | ENSP00000507429.1:p.Ser299Phe | |
| ENST00000684609.1:n.1561C>T (BSCL2) | ||
| ENST00000684720.1:n.2515C>T (BSCL2) | ||
| ENST00000360796.10:c.1031C>T (BSCL2) MANE Select | ENSP00000354032.5:p.Ser344Phe | |
| ENST00000679883.1:c.1031C>T (BSCL2) | ENSP00000505838.1:p.Ser344Phe | |
| ENST00000278893.11:c.697C>T (BSCL2) | ENSP00000278893.7:p.Pro233Ser | |
| ENST00000301781.10:c.*142C>T (BSCL2) | ENSP00000301781.5:n.*142C>T | |
| ENST00000360796.9:c.1031C>T (BSCL2) | ENSP00000354032.5:p.Ser344Phe | |
| ENST00000403098.6:c.186-695C>T (BSCL2) | ENSP00000384258.2:n.186-695C>T | |
| ENST00000403550.5:c.839C>T (BSCL2) | ENSP00000385561.1:p.Ser280Phe | |
| ENST00000403734.2:c.*1082C>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1082C>T | |
| ENST00000405837.5:c.1031C>T (BSCL2) | ENSP00000385332.1:p.Ser344Phe | |
| ENST00000407022.7:c.839C>T (BSCL2) | ENSP00000384080.3:p.Ser280Phe | |
| ENST00000421906.5:c.839C>T (BSCL2) | ENSP00000413209.1:p.Ser280Phe | |
| ENST00000449636.5:c.86C>T (BSCL2) | ENSP00000405265.1:p.Ser29Phe | |
| ENST00000463679.5:n.227C>T (BSCL2) | ||
| ENST00000468505.5:n.401C>T (BSCL2) | ||
| ENST00000470529.5:n.63C>T (BSCL2) | ||
| NM_001122955.3:c.1031C>T (BSCL2) | NP_001116427.1:p.Ser344Phe | |
| NM_001130702.2:c.697C>T (BSCL2) | NP_001124174.2:p.Pro233Ser | |
| NM_032667.6:c.839C>T (BSCL2) | NP_116056.3:p.Ser280Phe | |
| NR_037946.1:n.3551C>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1633C>T (BSCL2) | ||
| NR_037949.1:n.1633C>T (BSCL2) | ||
| NM_001122955.4:c.1031C>T (BSCL2) MANE Select | NP_001116427.1:p.Ser344Phe | |
| NM_001386027.1:c.1031C>T (BSCL2) | NP_001372956.1:p.Ser344Phe | |
| NM_001386028.1:c.1031C>T (BSCL2) | NP_001372957.1:p.Ser344Phe |