Canonical Allele Identifier: CA2573147373

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 1687147
• ClinVar RCV Id: RCV002250829
• dbSNP Id: rs2134695130

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692377dup , CM000673.2:g.62692377dup	GRCh38
NC_000011.9:g.62459849dup , CM000673.1:g.62459849dup	GRCh37
NC_000011.8:g.62216425dup	NCBI36
NG_008461.1:g.22198dup
NG_033077.1:g.2523dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.1054dup (BSCL2)
ENST00000449636.6:c.370dup (BSCL2)	ENSP00000405265.2:p.Arg124LysfsTer?
ENST00000524862.6:c.862dup (BSCL2)	ENSP00000433888.2:p.Arg288LysfsTer?
ENST00000682003.1:n.905dup (BSCL2)
ENST00000682223.1:c.862dup (BSCL2)	ENSP00000508140.1:p.Arg288LysfsTer?
ENST00000682262.1:c.631-956dup (BSCL2)	ENSP00000507103.1:n.631-956dup
ENST00000682555.1:c.780dup (BSCL2)	ENSP00000507814.1:p.Asp261ArgfsTer?
ENST00000682644.1:n.1254dup (BSCL2)
ENST00000682794.1:n.1172dup (BSCL2)
ENST00000683025.1:c.*509dup (BSCL2)	ENSP00000507028.1:n.*509dup
ENST00000683296.1:c.862dup (BSCL2)	ENSP00000507725.1:p.Arg288LysfsTer?
ENST00000683368.1:n.1053dup (BSCL2)
ENST00000683494.1:n.1443dup (BSCL2)
ENST00000683846.1:n.1202dup (BSCL2)
ENST00000683892.1:n.1364dup (BSCL2)
ENST00000684067.1:c.862dup (BSCL2)	ENSP00000506799.1:p.Arg288LysfsTer?
ENST00000684115.1:n.1443dup (BSCL2)
ENST00000684258.1:n.1290dup (BSCL2)
ENST00000684285.1:c.*369dup (BSCL2)	ENSP00000507669.1:n.*369dup
ENST00000684475.1:c.727dup (BSCL2)	ENSP00000507429.1:p.Arg243LysfsTer?
ENST00000684609.1:n.1254dup (BSCL2)
ENST00000684720.1:n.1254dup (BSCL2)
ENST00000360796.10:c.862dup (BSCL2) MANE Select	ENSP00000354032.5:p.Arg288LysfsTer?
ENST00000679883.1:c.862dup (BSCL2)	ENSP00000505838.1:p.Arg288LysfsTer?
ENST00000278893.11:c.670dup (BSCL2)	ENSP00000278893.7:p.Arg224LysfsTer?
ENST00000301781.10:c.807dup (BSCL2)	ENSP00000301781.5:p.Asp270ArgfsTer?
ENST00000360796.9:c.862dup (BSCL2)	ENSP00000354032.5:p.Arg288LysfsTer?
ENST00000403098.6:c.184dup (BSCL2)	ENSP00000384258.2:p.Ser62LysfsTer3
ENST00000403550.5:c.670dup (BSCL2)	ENSP00000385561.1:p.Arg224LysfsTer?
ENST00000403734.2:c.*913dup (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*913dup
ENST00000405837.5:c.862dup (BSCL2)	ENSP00000385332.1:p.Arg288LysfsTer?
ENST00000407022.7:c.670dup (BSCL2)	ENSP00000384080.3:p.Arg224LysfsTer?
ENST00000412351.1:n.460dup (BSCL2)
ENST00000421906.5:c.670dup (BSCL2)	ENSP00000413209.1:p.Arg224LysfsTer?
ENST00000448568.6:c.670dup (BSCL2)
ENST00000468505.5:n.232dup (BSCL2)
ENST00000532115.5:n.241dup (BSCL2)
NM_001122955.3:c.862dup (BSCL2)	NP_001116427.1:p.Arg288LysfsTer?
NM_001130702.2:c.670dup (BSCL2)	NP_001124174.2:p.Arg224LysfsTer?
NM_032667.6:c.670dup (BSCL2)	NP_116056.3:p.Arg224LysfsTer?
NR_037946.1:n.3382dup (HNRNPUL2-BSCL2)
NR_037948.1:n.1464dup (BSCL2)
NR_037949.1:n.1464dup (BSCL2)
NM_001122955.4:c.862dup (BSCL2) MANE Select	NP_001116427.1:p.Arg288LysfsTer?
NM_001386027.1:c.862dup (BSCL2)	NP_001372956.1:p.Arg288LysfsTer?
NM_001386028.1:c.862dup (BSCL2)	NP_001372957.1:p.Arg288LysfsTer?