Canonical Allele Identifier: CA1977888753

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692450G= , CM000673.2:g.62692450G=	GRCh38
NC_000011.9:g.62459922G= , CM000673.1:g.62459922G=	GRCh37
NC_000011.8:g.62216498G=	NCBI36
NG_008461.1:g.22125C=
NG_033077.1:g.2450C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.981C= (BSCL2)
ENST00000449636.6:c.297C= (BSCL2)	ENSP00000405265.2:p.Ile99=
ENST00000524862.6:c.789C= (BSCL2)	ENSP00000433888.2:p.Ile263=
ENST00000682003.1:n.832C= (BSCL2)
ENST00000682223.1:c.789C= (BSCL2)	ENSP00000508140.1:p.Ile263=
ENST00000682262.1:c.631-1029C= (BSCL2)	ENSP00000507103.1:n.631-1029C=
ENST00000682555.1:c.707C= (BSCL2)	ENSP00000507814.1:p.Ser236=
ENST00000682644.1:n.1181C= (BSCL2)
ENST00000682794.1:n.1099C= (BSCL2)
ENST00000683025.1:c.*436C= (BSCL2)	ENSP00000507028.1:n.*436C=
ENST00000683296.1:c.789C= (BSCL2)	ENSP00000507725.1:p.Ile263=
ENST00000683368.1:n.980C= (BSCL2)
ENST00000683494.1:n.1370C= (BSCL2)
ENST00000683846.1:n.1129C= (BSCL2)
ENST00000683892.1:n.1291C= (BSCL2)
ENST00000684067.1:c.789C= (BSCL2)	ENSP00000506799.1:p.Ile263=
ENST00000684115.1:n.1370C= (BSCL2)
ENST00000684258.1:n.1217C= (BSCL2)
ENST00000684285.1:c.*296C= (BSCL2)	ENSP00000507669.1:n.*296C=
ENST00000684475.1:c.654C= (BSCL2)	ENSP00000507429.1:p.Ile218=
ENST00000684609.1:n.1181C= (BSCL2)
ENST00000684720.1:n.1181C= (BSCL2)
ENST00000360796.10:c.789C= (BSCL2) MANE Select	ENSP00000354032.5:p.Ile263=
ENST00000679883.1:c.789C= (BSCL2)	ENSP00000505838.1:p.Ile263=
ENST00000278893.11:c.597C= (BSCL2)	ENSP00000278893.7:p.Ile199=
ENST00000301781.10:c.734C= (BSCL2)	ENSP00000301781.5:p.Ser245=
ENST00000360796.9:c.789C= (BSCL2)	ENSP00000354032.5:p.Ile263=
ENST00000403098.6:c.111C= (BSCL2)	ENSP00000384258.2:p.Ile37=
ENST00000403550.5:c.597C= (BSCL2)	ENSP00000385561.1:p.Ile199=
ENST00000403734.2:c.*840C= (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*840C=
ENST00000405837.5:c.789C= (BSCL2)	ENSP00000385332.1:p.Ile263=
ENST00000407022.7:c.597C= (BSCL2)	ENSP00000384080.3:p.Ile199=
ENST00000412351.1:n.387C= (BSCL2)
ENST00000421906.5:c.597C= (BSCL2)	ENSP00000413209.1:p.Ile199=
ENST00000448568.6:c.597C= (BSCL2)	ENSP00000413340.2:p.Ile199=
ENST00000468505.5:n.159C= (BSCL2)
ENST00000526426.1:n.313C= (BSCL2)
ENST00000532115.5:n.168C= (BSCL2)
NM_001122955.3:c.789C= (BSCL2)	NP_001116427.1:p.Ile263=
NM_001130702.2:c.597C= (BSCL2)	NP_001124174.2:p.Ile199=
NM_032667.6:c.597C= (BSCL2)	NP_116056.3:p.Ile199=
NR_037946.1:n.3309C= (HNRNPUL2-BSCL2)
NR_037948.1:n.1391C= (BSCL2)
NR_037949.1:n.1391C= (BSCL2)
NM_001122955.4:c.789C= (BSCL2) MANE Select	NP_001116427.1:p.Ile263=
NM_001386027.1:c.789C= (BSCL2)	NP_001372956.1:p.Ile263=
NM_001386028.1:c.789C= (BSCL2)	NP_001372957.1:p.Ile263=