Canonical Allele Identifier: CA6053443

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• dbSNP Id: rs777984500
• ExAC: 11:62459885 C / CTCCA
• gnomAD v2: 11-62459885-C-CTCCA
• MyVariant Identifiers: chr11:g.62459885_62459886insTCCA (hg19) ; chr11:g.62692413_62692414insTCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692415_62692418dup , CM000673.2:g.62692415_62692418dup	GRCh38
NC_000011.9:g.62459887_62459890dup , CM000673.1:g.62459887_62459890dup	GRCh37
NC_000011.8:g.62216463_62216466dup	NCBI36
NG_008461.1:g.22158_22161dup
NG_033077.1:g.2483_2486dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.1014_1017dup (BSCL2)
ENST00000449636.6:c.330_333dup (BSCL2)	ENSP00000405265.2:p.Ala112TrpfsTer?
ENST00000524862.6:c.822_825dup (BSCL2)	ENSP00000433888.2:p.Ala276TrpfsTer?
ENST00000682003.1:n.865_868dup (BSCL2)
ENST00000682223.1:c.822_825dup (BSCL2)	ENSP00000508140.1:p.Ala276TrpfsTer?
ENST00000682262.1:c.631-996_631-993dup (BSCL2)	ENSP00000507103.1:n.631-996_631-993dup
ENST00000682555.1:c.740_743dup (BSCL2)	ENSP00000507814.1:p.Glu248AspfsTer?
ENST00000682644.1:n.1214_1217dup (BSCL2)
ENST00000682794.1:n.1132_1135dup (BSCL2)
ENST00000683025.1:c.*469_*472dup (BSCL2)	ENSP00000507028.1:n.*469_*472dup
ENST00000683296.1:c.822_825dup (BSCL2)	ENSP00000507725.1:p.Ala276TrpfsTer?
ENST00000683368.1:n.1013_1016dup (BSCL2)
ENST00000683494.1:n.1403_1406dup (BSCL2)
ENST00000683846.1:n.1162_1165dup (BSCL2)
ENST00000683892.1:n.1324_1327dup (BSCL2)
ENST00000684067.1:c.822_825dup (BSCL2)	ENSP00000506799.1:p.Ala276TrpfsTer?
ENST00000684115.1:n.1403_1406dup (BSCL2)
ENST00000684258.1:n.1250_1253dup (BSCL2)
ENST00000684285.1:c.*329_*332dup (BSCL2)	ENSP00000507669.1:n.*329_*332dup
ENST00000684475.1:c.687_690dup (BSCL2)	ENSP00000507429.1:p.Ala231TrpfsTer?
ENST00000684609.1:n.1214_1217dup (BSCL2)
ENST00000684720.1:n.1214_1217dup (BSCL2)
ENST00000360796.10:c.822_825dup (BSCL2) MANE Select	ENSP00000354032.5:p.Ala276TrpfsTer?
ENST00000679883.1:c.822_825dup (BSCL2)	ENSP00000505838.1:p.Ala276TrpfsTer?
ENST00000278893.11:c.630_633dup (BSCL2)	ENSP00000278893.7:p.Ala212TrpfsTer?
ENST00000301781.10:c.767_770dup (BSCL2)	ENSP00000301781.5:p.Glu257AspfsTer?
ENST00000360796.9:c.822_825dup (BSCL2)	ENSP00000354032.5:p.Ala276TrpfsTer?
ENST00000403098.6:c.144_147dup (BSCL2)	ENSP00000384258.2:p.Ala50TrpfsTer16
ENST00000403550.5:c.630_633dup (BSCL2)	ENSP00000385561.1:p.Ala212TrpfsTer?
ENST00000403734.2:c.*873_*876dup (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*873_*876dup
ENST00000405837.5:c.822_825dup (BSCL2)	ENSP00000385332.1:p.Ala276TrpfsTer?
ENST00000407022.7:c.630_633dup (BSCL2)	ENSP00000384080.3:p.Ala212TrpfsTer?
ENST00000412351.1:n.420_423dup (BSCL2)
ENST00000421906.5:c.630_633dup (BSCL2)	ENSP00000413209.1:p.Ala212TrpfsTer?
ENST00000448568.6:c.630_633dup (BSCL2)	ENSP00000413340.2:p.Ala212TrpfsTer?
ENST00000468505.5:n.192_195dup (BSCL2)
ENST00000526426.1:n.346_349dup (BSCL2)
ENST00000532115.5:n.201_204dup (BSCL2)
NM_001122955.3:c.822_825dup (BSCL2)	NP_001116427.1:p.Ala276TrpfsTer?
NM_001130702.2:c.630_633dup (BSCL2)	NP_001124174.2:p.Ala212TrpfsTer?
NM_032667.6:c.630_633dup (BSCL2)	NP_116056.3:p.Ala212TrpfsTer?
NR_037946.1:n.3342_3345dup (HNRNPUL2-BSCL2)
NR_037948.1:n.1424_1427dup (BSCL2)
NR_037949.1:n.1424_1427dup (BSCL2)
NM_001122955.4:c.822_825dup (BSCL2) MANE Select	NP_001116427.1:p.Ala276TrpfsTer?
NM_001386027.1:c.822_825dup (BSCL2)	NP_001372956.1:p.Ala276TrpfsTer?
NM_001386028.1:c.822_825dup (BSCL2)	NP_001372957.1:p.Ala276TrpfsTer?