Canonical Allele Identifier: CA1977889523

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692744G= , CM000673.2:g.62692744G=	GRCh38
NC_000011.9:g.62460216G= , CM000673.1:g.62460216G=	GRCh37
NC_000011.8:g.62216792G=	NCBI36
NG_008461.1:g.21831C=
NG_033077.1:g.2156C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.876C= (BSCL2)
ENST00000449636.6:c.192C= (BSCL2)	ENSP00000405265.2:p.Phe64=
ENST00000524862.6:c.684C= (BSCL2)	ENSP00000433888.2:p.Phe228=
ENST00000682003.1:n.809-271C= (BSCL2)
ENST00000682223.1:c.684C= (BSCL2)	ENSP00000508140.1:p.Phe228=
ENST00000682262.1:c.631-1323C= (BSCL2)	ENSP00000507103.1:n.631-1323C=
ENST00000682555.1:c.631-29C= (BSCL2)	ENSP00000507814.1:n.631-29C=
ENST00000682644.1:n.1076C= (BSCL2)
ENST00000682794.1:n.994C= (BSCL2)
ENST00000683025.1:c.*331C= (BSCL2)	ENSP00000507028.1:n.*331C=
ENST00000683296.1:c.684C= (BSCL2)	ENSP00000507725.1:p.Phe228=
ENST00000683368.1:n.875C= (BSCL2)
ENST00000683494.1:n.1076C= (BSCL2)
ENST00000683846.1:n.1024C= (BSCL2)
ENST00000683892.1:n.1186C= (BSCL2)
ENST00000684067.1:c.684C= (BSCL2)	ENSP00000506799.1:p.Phe228=
ENST00000684115.1:n.1076C= (BSCL2)
ENST00000684258.1:n.1112C= (BSCL2)
ENST00000684285.1:c.*191C= (BSCL2)	ENSP00000507669.1:n.*191C=
ENST00000684475.1:c.631-271C= (BSCL2)	ENSP00000507429.1:n.631-271C=
ENST00000684609.1:n.1076C= (BSCL2)
ENST00000684720.1:n.1076C= (BSCL2)
ENST00000360796.10:c.684C= (BSCL2) MANE Select	ENSP00000354032.5:p.Phe228=
ENST00000679883.1:c.684C= (BSCL2)	ENSP00000505838.1:p.Phe228=
ENST00000278893.11:c.492C= (BSCL2)	ENSP00000278893.7:p.Phe164=
ENST00000301781.10:c.635-6C= (BSCL2)	ENSP00000301781.5:n.635-6C=
ENST00000360796.9:c.684C= (BSCL2)	ENSP00000354032.5:p.Phe228=
ENST00000403098.6:c.6C= (BSCL2)	ENSP00000384258.2:p.Phe2=
ENST00000403550.5:c.492C= (BSCL2)	ENSP00000385561.1:p.Phe164=
ENST00000403734.2:c.*735C= (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*735C=
ENST00000405837.5:c.684C= (BSCL2)	ENSP00000385332.1:p.Phe228=
ENST00000407022.7:c.492C= (BSCL2)	ENSP00000384080.3:p.Phe164=
ENST00000412351.1:n.282C= (BSCL2)
ENST00000421906.5:c.492C= (BSCL2)	ENSP00000413209.1:p.Phe164=
ENST00000448568.6:c.492C= (BSCL2)	ENSP00000413340.2:p.Phe164=
ENST00000468505.5:n.54C= (BSCL2)
ENST00000526426.1:n.199C= (BSCL2)
ENST00000531524.5:c.285C= (BSCL2)	ENSP00000436026.1:p.Phe95=
ENST00000532115.5:n.145-271C= (BSCL2)
NM_001122955.3:c.684C= (BSCL2)	NP_001116427.1:p.Phe228=
NM_001130702.2:c.492C= (BSCL2)	NP_001124174.2:p.Phe164=
NM_032667.6:c.492C= (BSCL2)	NP_116056.3:p.Phe164=
NR_037946.1:n.3204C= (HNRNPUL2-BSCL2)
NR_037948.1:n.1286C= (BSCL2)
NR_037949.1:n.1286C= (BSCL2)
NM_001122955.4:c.684C= (BSCL2) MANE Select	NP_001116427.1:p.Phe228=
NM_001386027.1:c.684C= (BSCL2)	NP_001372956.1:p.Phe228=
NM_001386028.1:c.684C= (BSCL2)	NP_001372957.1:p.Phe228=