Canonical Allele Identifier: CA645369504

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 430032
• ClinVar RCV Id: RCV000494386 ; RCV001070223
• dbSNP Id: rs1131691748
• MyVariant Identifiers: chr11:g.62460215_62460217del (hg19) ; chr11:g.62692743_62692745del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692746_62692748del , CM000673.2:g.62692746_62692748del	GRCh38
NC_000011.9:g.62460218_62460220del , CM000673.1:g.62460218_62460220del	GRCh37
NC_000011.8:g.62216794_62216796del	NCBI36
NG_008461.1:g.21830_21832del
NG_033077.1:g.2155_2157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.875_877del (BSCL2)
ENST00000449636.6:c.191_193del (BSCL2)	ENSP00000405265.2:p.Phe64del
ENST00000524862.6:c.683_685del (BSCL2)	ENSP00000433888.2:p.Phe228del
ENST00000682003.1:n.809-272_809-270del (BSCL2)
ENST00000682223.1:c.683_685del (BSCL2)	ENSP00000508140.1:p.Phe228del
ENST00000682262.1:c.631-1324_631-1322del (BSCL2)	ENSP00000507103.1:n.631-1324_631-1322del
ENST00000682555.1:c.631-30_631-28del (BSCL2)	ENSP00000507814.1:n.631-30_631-28del
ENST00000682644.1:n.1075_1077del (BSCL2)
ENST00000682794.1:n.993_995del (BSCL2)
ENST00000683025.1:c.*330_*332del (BSCL2)	ENSP00000507028.1:n.*330_*332del
ENST00000683296.1:c.683_685del (BSCL2)	ENSP00000507725.1:p.Phe228del
ENST00000683368.1:n.874_876del (BSCL2)
ENST00000683494.1:n.1075_1077del (BSCL2)
ENST00000683846.1:n.1023_1025del (BSCL2)
ENST00000683892.1:n.1185_1187del (BSCL2)
ENST00000684067.1:c.683_685del (BSCL2)	ENSP00000506799.1:p.Phe228del
ENST00000684115.1:n.1075_1077del (BSCL2)
ENST00000684258.1:n.1111_1113del (BSCL2)
ENST00000684285.1:c.*190_*192del (BSCL2)	ENSP00000507669.1:n.*190_*192del
ENST00000684475.1:c.631-272_631-270del (BSCL2)	ENSP00000507429.1:n.631-272_631-270del
ENST00000684609.1:n.1075_1077del (BSCL2)
ENST00000684720.1:n.1075_1077del (BSCL2)
ENST00000360796.10:c.683_685del (BSCL2) MANE Select	ENSP00000354032.5:p.Phe228del
ENST00000679883.1:c.683_685del (BSCL2)	ENSP00000505838.1:p.Phe228del
ENST00000278893.11:c.491_493del (BSCL2)	ENSP00000278893.7:p.Phe164del
ENST00000301781.10:c.635-7_635-5del (BSCL2)	ENSP00000301781.5:n.635-7_635-5del
ENST00000360796.9:c.683_685del (BSCL2)	ENSP00000354032.5:p.Phe228del
ENST00000403098.6:c.5_7del (BSCL2)	ENSP00000384258.2:p.Phe2del
ENST00000403550.5:c.491_493del (BSCL2)	ENSP00000385561.1:p.Phe164del
ENST00000403734.2:c.*734_*736del (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*734_*736del
ENST00000405837.5:c.683_685del (BSCL2)	ENSP00000385332.1:p.Phe228del
ENST00000407022.7:c.491_493del (BSCL2)	ENSP00000384080.3:p.Phe164del
ENST00000412351.1:n.281_283del (BSCL2)
ENST00000421906.5:c.491_493del (BSCL2)	ENSP00000413209.1:p.Phe164del
ENST00000448568.6:c.491_493del (BSCL2)	ENSP00000413340.2:p.Phe164del
ENST00000468505.5:n.53_55del (BSCL2)
ENST00000526426.1:n.198_200del (BSCL2)
ENST00000531524.5:c.284_286del (BSCL2)	ENSP00000436026.1:p.Phe95del
ENST00000532115.5:n.145-272_145-270del (BSCL2)
NM_001122955.3:c.683_685del (BSCL2)	NP_001116427.1:p.Phe228del
NM_001130702.2:c.491_493del (BSCL2)	NP_001124174.2:p.Phe164del
NM_032667.6:c.491_493del (BSCL2)	NP_116056.3:p.Phe164del
NR_037946.1:n.3203_3205del (HNRNPUL2-BSCL2)
NR_037948.1:n.1285_1287del (BSCL2)
NR_037949.1:n.1285_1287del (BSCL2)
NM_001122955.4:c.683_685del (BSCL2) MANE Select	NP_001116427.1:p.Phe228del
NM_001386027.1:c.683_685del (BSCL2)	NP_001372956.1:p.Phe228del
NM_001386028.1:c.683_685del (BSCL2)	NP_001372957.1:p.Phe228del