Canonical Allele Identifier: CA1977888305
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62692386T= , CM000673.2:g.62692386T= GRCh38
NC_000011.9:g.62459858T= , CM000673.1:g.62459858T= GRCh37
NC_000011.8:g.62216434T= NCBI36
NG_008461.1:g.22189A=
NG_033077.1:g.2514A=

Transcript Alleles

HGVS Amino-acid change
ENST00000412351.2:n.1045A= (BSCL2)
ENST00000449636.6:c.361A= (BSCL2) ENSP00000405265.2:p.Thr121=
ENST00000524862.6:c.853A= (BSCL2) ENSP00000433888.2:p.Thr285=
ENST00000682003.1:n.896A= (BSCL2)
ENST00000682223.1:c.853A= (BSCL2) ENSP00000508140.1:p.Thr285=
ENST00000682262.1:c.631-965A= (BSCL2) ENSP00000507103.1:n.631-965A=
ENST00000682555.1:c.771A= (BSCL2) ENSP00000507814.1:p.Ser257=
ENST00000682644.1:n.1245A= (BSCL2)
ENST00000682794.1:n.1163A= (BSCL2)
ENST00000683025.1:c.*500A= (BSCL2) ENSP00000507028.1:n.*500A=
ENST00000683296.1:c.853A= (BSCL2) ENSP00000507725.1:p.Thr285=
ENST00000683368.1:n.1044A= (BSCL2)
ENST00000683494.1:n.1434A= (BSCL2)
ENST00000683846.1:n.1193A= (BSCL2)
ENST00000683892.1:n.1355A= (BSCL2)
ENST00000684067.1:c.853A= (BSCL2) ENSP00000506799.1:p.Thr285=
ENST00000684115.1:n.1434A= (BSCL2)
ENST00000684258.1:n.1281A= (BSCL2)
ENST00000684285.1:c.*360A= (BSCL2) ENSP00000507669.1:n.*360A=
ENST00000684475.1:c.718A= (BSCL2) ENSP00000507429.1:p.Thr240=
ENST00000684609.1:n.1245A= (BSCL2)
ENST00000684720.1:n.1245A= (BSCL2)
ENST00000360796.10:c.853A= (BSCL2) MANE Select ENSP00000354032.5:p.Thr285=
ENST00000679883.1:c.853A= (BSCL2) ENSP00000505838.1:p.Thr285=
ENST00000278893.11:c.661A= (BSCL2) ENSP00000278893.7:p.Thr221=
ENST00000301781.10:c.798A= (BSCL2) ENSP00000301781.5:p.Ser266=
ENST00000360796.9:c.853A= (BSCL2) ENSP00000354032.5:p.Thr285=
ENST00000403098.6:c.175A= (BSCL2) ENSP00000384258.2:p.Thr59=
ENST00000403550.5:c.661A= (BSCL2) ENSP00000385561.1:p.Thr221=
ENST00000403734.2:c.*904A= (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*904A=
ENST00000405837.5:c.853A= (BSCL2) ENSP00000385332.1:p.Thr285=
ENST00000407022.7:c.661A= (BSCL2) ENSP00000384080.3:p.Thr221=
ENST00000412351.1:n.451A= (BSCL2)
ENST00000421906.5:c.661A= (BSCL2) ENSP00000413209.1:p.Thr221=
ENST00000448568.6:c.661A= (BSCL2) ENSP00000413340.2:p.Thr221=
ENST00000468505.5:n.223A= (BSCL2)
ENST00000532115.5:n.232A= (BSCL2)
NM_001122955.3:c.853A= (BSCL2) NP_001116427.1:p.Thr285=
NM_001130702.2:c.661A= (BSCL2) NP_001124174.2:p.Thr221=
NM_032667.6:c.661A= (BSCL2) NP_116056.3:p.Thr221=
NR_037946.1:n.3373A= (HNRNPUL2-BSCL2)
NR_037948.1:n.1455A= (BSCL2)
NR_037949.1:n.1455A= (BSCL2)
NM_001122955.4:c.853A= (BSCL2) MANE Select NP_001116427.1:p.Thr285=
NM_001386027.1:c.853A= (BSCL2) NP_001372956.1:p.Thr285=
NM_001386028.1:c.853A= (BSCL2) NP_001372957.1:p.Thr285=