Canonical Allele Identifier: CA1977888615

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692404G= , CM000673.2:g.62692404G=	GRCh38
NC_000011.9:g.62459876G= , CM000673.1:g.62459876G=	GRCh37
NC_000011.8:g.62216452G=	NCBI36
NG_008461.1:g.22171C=
NG_033077.1:g.2496C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1027C= (BSCL2)
ENST00000449636.6:c.343C= (BSCL2)	ENSP00000405265.2:p.Arg115=
ENST00000524862.6:c.835C= (BSCL2)	ENSP00000433888.2:p.Arg279=
ENST00000682003.1:n.878C= (BSCL2)
ENST00000682223.1:c.835C= (BSCL2)	ENSP00000508140.1:p.Arg279=
ENST00000682262.1:c.631-983C= (BSCL2)	ENSP00000507103.1:n.631-983C=
ENST00000682555.1:c.753C= (BSCL2)	ENSP00000507814.1:p.Ser251=
ENST00000682644.1:n.1227C= (BSCL2)
ENST00000682794.1:n.1145C= (BSCL2)
ENST00000683025.1:c.*482C= (BSCL2)	ENSP00000507028.1:n.*482C=
ENST00000683296.1:c.835C= (BSCL2)	ENSP00000507725.1:p.Arg279=
ENST00000683368.1:n.1026C= (BSCL2)
ENST00000683494.1:n.1416C= (BSCL2)
ENST00000683846.1:n.1175C= (BSCL2)
ENST00000683892.1:n.1337C= (BSCL2)
ENST00000684067.1:c.835C= (BSCL2)	ENSP00000506799.1:p.Arg279=
ENST00000684115.1:n.1416C= (BSCL2)
ENST00000684258.1:n.1263C= (BSCL2)
ENST00000684285.1:c.*342C= (BSCL2)	ENSP00000507669.1:n.*342C=
ENST00000684475.1:c.700C= (BSCL2)	ENSP00000507429.1:p.Arg234=
ENST00000684609.1:n.1227C= (BSCL2)
ENST00000684720.1:n.1227C= (BSCL2)
ENST00000360796.10:c.835C= (BSCL2) MANE Select	ENSP00000354032.5:p.Arg279=
ENST00000679883.1:c.835C= (BSCL2)	ENSP00000505838.1:p.Arg279=
ENST00000278893.11:c.643C= (BSCL2)	ENSP00000278893.7:p.Arg215=
ENST00000301781.10:c.780C= (BSCL2)	ENSP00000301781.5:p.Ser260=
ENST00000360796.9:c.835C= (BSCL2)	ENSP00000354032.5:p.Arg279=
ENST00000403098.6:c.157C= (BSCL2)	ENSP00000384258.2:p.Arg53=
ENST00000403550.5:c.643C= (BSCL2)	ENSP00000385561.1:p.Arg215=
ENST00000403734.2:c.*886C= (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*886C=
ENST00000405837.5:c.835C= (BSCL2)	ENSP00000385332.1:p.Arg279=
ENST00000407022.7:c.643C= (BSCL2)	ENSP00000384080.3:p.Arg215=
ENST00000412351.1:n.433C= (BSCL2)
ENST00000421906.5:c.643C= (BSCL2)	ENSP00000413209.1:p.Arg215=
ENST00000448568.6:c.643C= (BSCL2)	ENSP00000413340.2:p.Arg215=
ENST00000468505.5:n.205C= (BSCL2)
ENST00000532115.5:n.214C= (BSCL2)
NM_001122955.3:c.835C= (BSCL2)	NP_001116427.1:p.Arg279=
NM_001130702.2:c.643C= (BSCL2)	NP_001124174.2:p.Arg215=
NM_032667.6:c.643C= (BSCL2)	NP_116056.3:p.Arg215=
NR_037946.1:n.3355C= (HNRNPUL2-BSCL2)
NR_037948.1:n.1437C= (BSCL2)
NR_037949.1:n.1437C= (BSCL2)
NM_001122955.4:c.835C= (BSCL2) MANE Select	NP_001116427.1:p.Arg279=
NM_001386027.1:c.835C= (BSCL2)	NP_001372956.1:p.Arg279=
NM_001386028.1:c.835C= (BSCL2)	NP_001372957.1:p.Arg279=