Canonical Allele Identifier: CA1977889535

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692752G= , CM000673.2:g.62692752G=	GRCh38
NC_000011.9:g.62460224G= , CM000673.1:g.62460224G=	GRCh37
NC_000011.8:g.62216800G=	NCBI36
NG_008461.1:g.21823C=
NG_033077.1:g.2148C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.868C= (BSCL2)
ENST00000449636.6:c.184C= (BSCL2)	ENSP00000405265.2:p.Leu62=
ENST00000524862.6:c.676C= (BSCL2)	ENSP00000433888.2:p.Leu226=
ENST00000682003.1:n.809-279C= (BSCL2)
ENST00000682223.1:c.676C= (BSCL2)	ENSP00000508140.1:p.Leu226=
ENST00000682262.1:c.631-1331C= (BSCL2)	ENSP00000507103.1:n.631-1331C=
ENST00000682555.1:c.631-37C= (BSCL2)	ENSP00000507814.1:n.631-37C=
ENST00000682644.1:n.1068C= (BSCL2)
ENST00000682794.1:n.986C= (BSCL2)
ENST00000683025.1:c.*323C= (BSCL2)	ENSP00000507028.1:n.*323C=
ENST00000683296.1:c.676C= (BSCL2)	ENSP00000507725.1:p.Leu226=
ENST00000683368.1:n.867C= (BSCL2)
ENST00000683494.1:n.1068C= (BSCL2)
ENST00000683846.1:n.1016C= (BSCL2)
ENST00000683892.1:n.1178C= (BSCL2)
ENST00000684067.1:c.676C= (BSCL2)	ENSP00000506799.1:p.Leu226=
ENST00000684115.1:n.1068C= (BSCL2)
ENST00000684258.1:n.1104C= (BSCL2)
ENST00000684285.1:c.*183C= (BSCL2)	ENSP00000507669.1:n.*183C=
ENST00000684475.1:c.631-279C= (BSCL2)	ENSP00000507429.1:n.631-279C=
ENST00000684609.1:n.1068C= (BSCL2)
ENST00000684720.1:n.1068C= (BSCL2)
ENST00000360796.10:c.676C= (BSCL2) MANE Select	ENSP00000354032.5:p.Leu226=
ENST00000679883.1:c.676C= (BSCL2)	ENSP00000505838.1:p.Leu226=
ENST00000278893.11:c.484C= (BSCL2)	ENSP00000278893.7:p.Leu162=
ENST00000301781.10:c.635-14C= (BSCL2)	ENSP00000301781.5:n.635-14C=
ENST00000360796.9:c.676C= (BSCL2)	ENSP00000354032.5:p.Leu226=
ENST00000403550.5:c.484C= (BSCL2)	ENSP00000385561.1:p.Leu162=
ENST00000403734.2:c.*727C= (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*727C=
ENST00000405837.5:c.676C= (BSCL2)	ENSP00000385332.1:p.Leu226=
ENST00000407022.7:c.484C= (BSCL2)	ENSP00000384080.3:p.Leu162=
ENST00000412351.1:n.274C= (BSCL2)
ENST00000421906.5:c.484C= (BSCL2)	ENSP00000413209.1:p.Leu162=
ENST00000448568.6:c.484C= (BSCL2)	ENSP00000413340.2:p.Leu162=
ENST00000468505.5:n.46C= (BSCL2)
ENST00000524862.5:c.676C= (BSCL2)	ENSP00000433888.1:p.Leu226=
ENST00000526426.1:n.191C= (BSCL2)
ENST00000531524.5:c.277C= (BSCL2)	ENSP00000436026.1:p.Leu93=
ENST00000532115.5:n.145-279C= (BSCL2)
NM_001122955.3:c.676C= (BSCL2)	NP_001116427.1:p.Leu226=
NM_001130702.2:c.484C= (BSCL2)	NP_001124174.2:p.Leu162=
NM_032667.6:c.484C= (BSCL2)	NP_116056.3:p.Leu162=
NR_037946.1:n.3196C= (HNRNPUL2-BSCL2)
NR_037948.1:n.1278C= (BSCL2)
NR_037949.1:n.1278C= (BSCL2)
NM_001122955.4:c.676C= (BSCL2) MANE Select	NP_001116427.1:p.Leu226=
NM_001386027.1:c.676C= (BSCL2)	NP_001372956.1:p.Leu226=
NM_001386028.1:c.676C= (BSCL2)	NP_001372957.1:p.Leu226=