Canonical Allele Identifier: CA1977888269

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692378G= , CM000673.2:g.62692378G=	GRCh38
NC_000011.9:g.62459850G= , CM000673.1:g.62459850G=	GRCh37
NC_000011.8:g.62216426G=	NCBI36
NG_008461.1:g.22197C=
NG_033077.1:g.2522C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1053C= (BSCL2)
ENST00000449636.6:c.369C= (BSCL2)	ENSP00000405265.2:p.Leu123=
ENST00000524862.6:c.861C= (BSCL2)	ENSP00000433888.2:p.Leu287=
ENST00000682003.1:n.904C= (BSCL2)
ENST00000682223.1:c.861C= (BSCL2)	ENSP00000508140.1:p.Leu287=
ENST00000682262.1:c.631-957C= (BSCL2)	ENSP00000507103.1:n.631-957C=
ENST00000682555.1:c.779C= (BSCL2)	ENSP00000507814.1:p.Ser260=
ENST00000682644.1:n.1253C= (BSCL2)
ENST00000682794.1:n.1171C= (BSCL2)
ENST00000683025.1:c.*508C= (BSCL2)	ENSP00000507028.1:n.*508C=
ENST00000683296.1:c.861C= (BSCL2)	ENSP00000507725.1:p.Leu287=
ENST00000683368.1:n.1052C= (BSCL2)
ENST00000683494.1:n.1442C= (BSCL2)
ENST00000683846.1:n.1201C= (BSCL2)
ENST00000683892.1:n.1363C= (BSCL2)
ENST00000684067.1:c.861C= (BSCL2)	ENSP00000506799.1:p.Leu287=
ENST00000684115.1:n.1442C= (BSCL2)
ENST00000684258.1:n.1289C= (BSCL2)
ENST00000684285.1:c.*368C= (BSCL2)	ENSP00000507669.1:n.*368C=
ENST00000684475.1:c.726C= (BSCL2)	ENSP00000507429.1:p.Leu242=
ENST00000684609.1:n.1253C= (BSCL2)
ENST00000684720.1:n.1253C= (BSCL2)
ENST00000360796.10:c.861C= (BSCL2) MANE Select	ENSP00000354032.5:p.Leu287=
ENST00000679883.1:c.861C= (BSCL2)	ENSP00000505838.1:p.Leu287=
ENST00000278893.11:c.669C= (BSCL2)	ENSP00000278893.7:p.Leu223=
ENST00000301781.10:c.806C= (BSCL2)	ENSP00000301781.5:p.Ser269=
ENST00000360796.9:c.861C= (BSCL2)	ENSP00000354032.5:p.Leu287=
ENST00000403098.6:c.183C= (BSCL2)	ENSP00000384258.2:p.Leu61=
ENST00000403550.5:c.669C= (BSCL2)	ENSP00000385561.1:p.Leu223=
ENST00000403734.2:c.*912C= (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*912C=
ENST00000405837.5:c.861C= (BSCL2)	ENSP00000385332.1:p.Leu287=
ENST00000407022.7:c.669C= (BSCL2)	ENSP00000384080.3:p.Leu223=
ENST00000412351.1:n.459C= (BSCL2)
ENST00000421906.5:c.669C= (BSCL2)	ENSP00000413209.1:p.Leu223=
ENST00000448568.6:c.669C= (BSCL2)	ENSP00000413340.2:p.Leu223=
ENST00000468505.5:n.231C= (BSCL2)
ENST00000532115.5:n.240C= (BSCL2)
NM_001122955.3:c.861C= (BSCL2)	NP_001116427.1:p.Leu287=
NM_001130702.2:c.669C= (BSCL2)	NP_001124174.2:p.Leu223=
NM_032667.6:c.669C= (BSCL2)	NP_116056.3:p.Leu223=
NR_037946.1:n.3381C= (HNRNPUL2-BSCL2)
NR_037948.1:n.1463C= (BSCL2)
NR_037949.1:n.1463C= (BSCL2)
NM_001122955.4:c.861C= (BSCL2) MANE Select	NP_001116427.1:p.Leu287=
NM_001386027.1:c.861C= (BSCL2)	NP_001372956.1:p.Leu287=
NM_001386028.1:c.861C= (BSCL2)	NP_001372957.1:p.Leu287=