Linked Data
ClinVar Variation Id:
199176
ClinVar RCV Id:
RCV000271246
RCV000328674
RCV000657059
RCV001001623
RCV001087807
RCV001847821
RCV002444724
dbSNP Id:
rs144245125
ExAC:
11:62458312 G / A
gnomAD v2:
11-62458312-G-A
gnomAD v3:
11-62690840-G-A
gnomAD v4:
11-62690840-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62690840G>A , CM000673.2:g.62690840G>A | GRCh38 |
| NC_000011.9:g.62458312G>A , CM000673.1:g.62458312G>A | GRCh37 |
| NC_000011.8:g.62214888G>A | NCBI36 |
| NG_008461.1:g.23735C>T | |
| NG_033077.1:g.4060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1430C>T (BSCL2) | ||
| ENST00000449636.6:c.608C>T (BSCL2) | ENSP00000405265.2:p.Pro203Leu | |
| ENST00000463679.6:n.1090C>T (BSCL2) | ||
| ENST00000524862.6:c.1100C>T (BSCL2) | ENSP00000433888.2:p.Pro367Leu | |
| ENST00000682003.1:n.1488C>T (BSCL2) | ||
| ENST00000682223.1:c.1100C>T (BSCL2) | ENSP00000508140.1:p.Pro367Leu | |
| ENST00000682262.1:c.*162C>T (BSCL2) | ENSP00000507103.1:n.*162C>T | |
| ENST00000682555.1:c.*211C>T (BSCL2) | ENSP00000507814.1:n.*211C>T | |
| ENST00000682644.1:n.1837C>T (BSCL2) | ||
| ENST00000682794.1:n.1617C>T (BSCL2) | ||
| ENST00000683025.1:c.*885C>T (BSCL2) | ENSP00000507028.1:n.*885C>T | |
| ENST00000683193.1:n.820C>T (BSCL2) | ||
| ENST00000683296.1:c.1100C>T (BSCL2) | ENSP00000507725.1:p.Pro367Leu | |
| ENST00000683368.1:n.1498C>T (BSCL2) | ||
| ENST00000683494.1:n.2980C>T (BSCL2) | ||
| ENST00000683846.1:n.1440C>T (BSCL2) | ||
| ENST00000683892.1:n.1740C>T (BSCL2) | ||
| ENST00000684067.1:c.1073-109C>T (BSCL2) | ENSP00000506799.1:n.1073-109C>T | |
| ENST00000684115.1:n.1681C>T (BSCL2) | ||
| ENST00000684258.1:n.1873C>T (BSCL2) | ||
| ENST00000684285.1:c.*607C>T (BSCL2) | ENSP00000507669.1:n.*607C>T | |
| ENST00000684475.1:c.965C>T (BSCL2) | ENSP00000507429.1:p.Pro322Leu | |
| ENST00000684609.1:n.1837C>T (BSCL2) | ||
| ENST00000684720.1:n.2791C>T (BSCL2) | ||
| ENST00000360796.10:c.1100C>T (BSCL2) MANE Select | ENSP00000354032.5:p.Pro367Leu | |
| ENST00000679883.1:c.1100C>T (BSCL2) | ENSP00000505838.1:p.Pro367Leu | |
| ENST00000278893.11:c.766C>T (BSCL2) | ENSP00000278893.7:p.Arg256Cys | |
| ENST00000301781.10:c.*211C>T (BSCL2) | ENSP00000301781.5:n.*211C>T | |
| ENST00000360796.9:c.1100C>T (BSCL2) | ENSP00000354032.5:p.Pro367Leu | |
| ENST00000403098.6:c.186-419C>T (BSCL2) | ENSP00000384258.2:n.186-419C>T | |
| ENST00000403550.5:c.908C>T (BSCL2) | ENSP00000385561.1:p.Pro303Leu | |
| ENST00000403734.2:c.*1151C>T (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*1151C>T | |
| ENST00000405837.5:c.1106C>T (BSCL2) | ENSP00000385332.1:p.Pro369Leu | |
| ENST00000407022.7:c.908C>T (BSCL2) | ENSP00000384080.3:p.Pro303Leu | |
| ENST00000421906.5:c.908C>T (BSCL2) | ENSP00000413209.1:p.Pro303Leu | |
| ENST00000449636.5:c.155C>T (BSCL2) | ENSP00000405265.1:p.Pro52Leu | |
| ENST00000463679.5:n.503C>T (BSCL2) | ||
| ENST00000470529.5:n.132C>T (BSCL2) | ||
| NM_001122955.3:c.1100C>T (BSCL2) | NP_001116427.1:p.Pro367Leu | |
| NM_001130702.2:c.766C>T (BSCL2) | NP_001124174.2:p.Arg256Cys | |
| NM_032667.6:c.908C>T (BSCL2) | NP_116056.3:p.Pro303Leu | |
| NR_037946.1:n.3620C>T (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1702C>T (BSCL2) | ||
| NR_037949.1:n.1708C>T (BSCL2) | ||
| NM_001122955.4:c.1100C>T (BSCL2) MANE Select | NP_001116427.1:p.Pro367Leu | |
| NM_001386027.1:c.1106C>T (BSCL2) | NP_001372956.1:p.Pro369Leu | |
| NM_001386028.1:c.1100C>T (BSCL2) | NP_001372957.1:p.Pro367Leu |