Linked Data
ClinVar Variation Id:
245942
dbSNP Id:
rs141518903
ExAC:
11:62458150 C / T
gnomAD v2:
11-62458150-C-T
gnomAD v3:
11-62690678-C-T
gnomAD v4:
11-62690678-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62690678C>T , CM000673.2:g.62690678C>T | GRCh38 |
| NC_000011.9:g.62458150C>T , CM000673.1:g.62458150C>T | GRCh37 |
| NC_000011.8:g.62214726C>T | NCBI36 |
| NG_008461.1:g.23897G>A | |
| NG_033077.1:g.4222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1498G>A (BSCL2) | ||
| ENST00000449636.6:c.676G>A (BSCL2) | ENSP00000405265.2:p.Glu226Lys | |
| ENST00000463679.6:n.1252G>A (BSCL2) | ||
| ENST00000524862.6:c.1168G>A (BSCL2) | ENSP00000433888.2:p.Glu390Lys | |
| ENST00000682003.1:n.1556G>A (BSCL2) | ||
| ENST00000682223.1:c.1168G>A (BSCL2) | ENSP00000508140.1:p.Glu390Lys | |
| ENST00000682262.1:c.*230G>A (BSCL2) | ENSP00000507103.1:n.*230G>A | |
| ENST00000682555.1:c.*279G>A (BSCL2) | ENSP00000507814.1:n.*279G>A | |
| ENST00000682644.1:n.1905G>A (BSCL2) | ||
| ENST00000682794.1:n.1685G>A (BSCL2) | ||
| ENST00000683025.1:c.*953G>A (BSCL2) | ENSP00000507028.1:n.*953G>A | |
| ENST00000683193.1:n.888G>A (BSCL2) | ||
| ENST00000683296.1:c.1177G>A (BSCL2) | ENSP00000507725.1:p.Glu393Lys | |
| ENST00000683368.1:n.1566G>A (BSCL2) | ||
| ENST00000683494.1:n.3048G>A (BSCL2) | ||
| ENST00000683846.1:n.1508G>A (BSCL2) | ||
| ENST00000683892.1:n.1808G>A (BSCL2) | ||
| ENST00000684067.1:c.1126G>A (BSCL2) | ENSP00000506799.1:p.Glu376Lys | |
| ENST00000684115.1:n.1749G>A (BSCL2) | ||
| ENST00000684258.1:n.1941G>A (BSCL2) | ||
| ENST00000684285.1:c.*675G>A (BSCL2) | ENSP00000507669.1:n.*675G>A | |
| ENST00000684475.1:c.1033G>A (BSCL2) | ENSP00000507429.1:p.Glu345Lys | |
| ENST00000684609.1:n.1999G>A (BSCL2) | ||
| ENST00000684720.1:n.2859G>A (BSCL2) | ||
| ENST00000360796.10:c.1168G>A (BSCL2) MANE Select | ENSP00000354032.5:p.Glu390Lys | |
| ENST00000679883.1:c.1168G>A (BSCL2) | ENSP00000505838.1:p.Glu390Lys | |
| ENST00000278893.11:c.834G>A (BSCL2) | ENSP00000278893.7:p.Pro278= | |
| ENST00000301781.10:c.*279G>A (BSCL2) | ENSP00000301781.5:n.*279G>A | |
| ENST00000360796.9:c.1168G>A (BSCL2) | ENSP00000354032.5:p.Glu390Lys | |
| ENST00000403098.6:c.186-257G>A (BSCL2) | ENSP00000384258.2:n.186-257G>A | |
| ENST00000403550.5:c.976G>A (BSCL2) | ENSP00000385561.1:p.Glu326Lys | |
| ENST00000403734.2:c.*1219G>A (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1219G>A | |
| ENST00000405837.5:c.1174G>A (BSCL2) | ENSP00000385332.1:p.Glu392Lys | |
| ENST00000407022.7:c.976G>A (BSCL2) | ENSP00000384080.3:p.Glu326Lys | |
| ENST00000421906.5:c.976G>A (BSCL2) | ENSP00000413209.1:p.Glu326Lys | |
| ENST00000449636.5:c.232G>A (BSCL2) | ENSP00000405265.1:p.Glu78Lys | |
| ENST00000463679.5:n.571G>A (BSCL2) | ||
| ENST00000470529.5:n.200G>A (BSCL2) | ||
| NM_001122955.3:c.1168G>A (BSCL2) | NP_001116427.1:p.Glu390Lys | |
| NM_001130702.2:c.834G>A (BSCL2) | NP_001124174.2:p.Pro278= | |
| NM_032667.6:c.976G>A (BSCL2) | NP_116056.3:p.Glu326Lys | |
| NR_037946.1:n.3688G>A (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1770G>A (BSCL2) | ||
| NR_037949.1:n.1776G>A (BSCL2) | ||
| NM_001122955.4:c.1168G>A (BSCL2) MANE Select | NP_001116427.1:p.Glu390Lys | |
| NM_001386027.1:c.1174G>A (BSCL2) | NP_001372956.1:p.Glu392Lys | |
| NM_001386028.1:c.1168G>A (BSCL2) | NP_001372957.1:p.Glu390Lys |