Canonical Allele Identifier: CA380962885
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62692726A>C , CM000673.2:g.62692726A>C GRCh38
NC_000011.9:g.62460198A>C , CM000673.1:g.62460198A>C GRCh37
NC_000011.8:g.62216774A>C NCBI36
NG_008461.1:g.21849T>G
NG_033077.1:g.2174T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000412351.2:n.894T>G (BSCL2)
ENST00000449636.6:c.210T>G (BSCL2) ENSP00000405265.2:p.Phe70Leu
ENST00000524862.6:c.702T>G (BSCL2) ENSP00000433888.2:p.Phe234Leu
ENST00000682003.1:n.809-253T>G (BSCL2)
ENST00000682223.1:c.702T>G (BSCL2) ENSP00000508140.1:p.Phe234Leu
ENST00000682262.1:c.631-1305T>G (BSCL2) ENSP00000507103.1:n.631-1305T>G
ENST00000682555.1:c.631-11T>G (BSCL2) ENSP00000507814.1:n.631-11T>G
ENST00000682644.1:n.1094T>G (BSCL2)
ENST00000682794.1:n.1012T>G (BSCL2)
ENST00000683025.1:c.*349T>G (BSCL2) ENSP00000507028.1:n.*349T>G
ENST00000683296.1:c.702T>G (BSCL2) ENSP00000507725.1:p.Phe234Leu
ENST00000683368.1:n.893T>G (BSCL2)
ENST00000683494.1:n.1094T>G (BSCL2)
ENST00000683846.1:n.1042T>G (BSCL2)
ENST00000683892.1:n.1204T>G (BSCL2)
ENST00000684067.1:c.702T>G (BSCL2) ENSP00000506799.1:p.Phe234Leu
ENST00000684115.1:n.1094T>G (BSCL2)
ENST00000684258.1:n.1130T>G (BSCL2)
ENST00000684285.1:c.*209T>G (BSCL2) ENSP00000507669.1:n.*209T>G
ENST00000684475.1:c.631-253T>G (BSCL2) ENSP00000507429.1:n.631-253T>G
ENST00000684609.1:n.1094T>G (BSCL2)
ENST00000684720.1:n.1094T>G (BSCL2)
ENST00000360796.10:c.702T>G (BSCL2) MANE Select ENSP00000354032.5:p.Phe234Leu
ENST00000679883.1:c.702T>G (BSCL2) ENSP00000505838.1:p.Phe234Leu
ENST00000278893.11:c.510T>G (BSCL2) ENSP00000278893.7:p.Phe170Leu
ENST00000301781.10:c.647T>G (BSCL2) ENSP00000301781.5:p.Leu216Trp
ENST00000360796.9:c.702T>G (BSCL2) ENSP00000354032.5:p.Phe234Leu
ENST00000403098.6:c.24T>G (BSCL2) ENSP00000384258.2:p.Phe8Leu
ENST00000403550.5:c.510T>G (BSCL2) ENSP00000385561.1:p.Phe170Leu
ENST00000403734.2:c.*753T>G (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*753T>G
ENST00000405837.5:c.702T>G (BSCL2) ENSP00000385332.1:p.Phe234Leu
ENST00000407022.7:c.510T>G (BSCL2) ENSP00000384080.3:p.Phe170Leu
ENST00000412351.1:n.300T>G (BSCL2)
ENST00000421906.5:c.510T>G (BSCL2) ENSP00000413209.1:p.Phe170Leu
ENST00000448568.6:c.510T>G (BSCL2) ENSP00000413340.2:p.Phe170Leu
ENST00000468505.5:n.72T>G (BSCL2)
ENST00000526426.1:n.217T>G (BSCL2)
ENST00000531524.5:c.303T>G (BSCL2) ENSP00000436026.1:p.Phe101Leu
ENST00000532115.5:n.145-253T>G (BSCL2)
NM_001122955.3:c.702T>G (BSCL2) NP_001116427.1:p.Phe234Leu
NM_001130702.2:c.510T>G (BSCL2) NP_001124174.2:p.Phe170Leu
NM_032667.6:c.510T>G (BSCL2) NP_116056.3:p.Phe170Leu
NR_037946.1:n.3222T>G (HNRNPUL2-BSCL2)
NR_037948.1:n.1304T>G (BSCL2)
NR_037949.1:n.1304T>G (BSCL2)
NM_001122955.4:c.702T>G (BSCL2) MANE Select NP_001116427.1:p.Phe234Leu
NM_001386027.1:c.702T>G (BSCL2) NP_001372956.1:p.Phe234Leu
NM_001386028.1:c.702T>G (BSCL2) NP_001372957.1:p.Phe234Leu