Canonical Allele Identifier: CA6053494

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• dbSNP Id: rs771074843
• ExAC: 11:62460224 G / GT
• gnomAD v2: 11-62460224-G-GT
• gnomAD v3: 11-62692752-G-GT
• gnomAD v4: 11-62692752-G-GT
• MyVariant Identifiers: chr11:g.62460224_62460225insT (hg19) ; chr11:g.62692752_62692753insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692753dup , CM000673.2:g.62692753dup	GRCh38
NC_000011.9:g.62460225dup , CM000673.1:g.62460225dup	GRCh37
NC_000011.8:g.62216801dup	NCBI36
NG_008461.1:g.21822dup
NG_033077.1:g.2147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.867dup (BSCL2)
ENST00000449636.6:c.183dup (BSCL2)	ENSP00000405265.2:p.Leu62ThrfsTer5
ENST00000524862.6:c.675dup (BSCL2)	ENSP00000433888.2:p.Leu226ThrfsTer5
ENST00000682003.1:n.809-280dup (BSCL2)
ENST00000682223.1:c.675dup (BSCL2)	ENSP00000508140.1:p.Leu226ThrfsTer5
ENST00000682262.1:c.631-1332dup (BSCL2)	ENSP00000507103.1:n.631-1332dup
ENST00000682555.1:c.631-38dup (BSCL2)	ENSP00000507814.1:n.631-38dup
ENST00000682644.1:n.1067dup (BSCL2)
ENST00000682794.1:n.985dup (BSCL2)
ENST00000683025.1:c.*322dup (BSCL2)	ENSP00000507028.1:n.*322dup
ENST00000683296.1:c.675dup (BSCL2)	ENSP00000507725.1:p.Leu226ThrfsTer5
ENST00000683368.1:n.866dup (BSCL2)
ENST00000683494.1:n.1067dup (BSCL2)
ENST00000683846.1:n.1015dup (BSCL2)
ENST00000683892.1:n.1177dup (BSCL2)
ENST00000684067.1:c.675dup (BSCL2)	ENSP00000506799.1:p.Leu226ThrfsTer5
ENST00000684115.1:n.1067dup (BSCL2)
ENST00000684258.1:n.1103dup (BSCL2)
ENST00000684285.1:c.*182dup (BSCL2)	ENSP00000507669.1:n.*182dup
ENST00000684475.1:c.631-280dup (BSCL2)	ENSP00000507429.1:n.631-280dup
ENST00000684609.1:n.1067dup (BSCL2)
ENST00000684720.1:n.1067dup (BSCL2)
ENST00000360796.10:c.675dup (BSCL2) MANE Select	ENSP00000354032.5:p.Leu226ThrfsTer5
ENST00000679883.1:c.675dup (BSCL2)	ENSP00000505838.1:p.Leu226ThrfsTer5
ENST00000278893.11:c.483dup (BSCL2)	ENSP00000278893.7:p.Leu162ThrfsTer5
ENST00000301781.10:c.635-15dup (BSCL2)	ENSP00000301781.5:n.635-15dup
ENST00000360796.9:c.675dup (BSCL2)	ENSP00000354032.5:p.Leu226ThrfsTer5
ENST00000403550.5:c.483dup (BSCL2)	ENSP00000385561.1:p.Leu162ThrfsTer5
ENST00000403734.2:c.*726dup (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*726dup
ENST00000405837.5:c.675dup (BSCL2)	ENSP00000385332.1:p.Leu226ThrfsTer5
ENST00000407022.7:c.483dup (BSCL2)	ENSP00000384080.3:p.Leu162ThrfsTer5
ENST00000412351.1:n.273dup (BSCL2)
ENST00000421906.5:c.483dup (BSCL2)	ENSP00000413209.1:p.Leu162ThrfsTer5
ENST00000448568.6:c.483dup (BSCL2)	ENSP00000413340.2:p.Leu162ThrfsTer5
ENST00000468505.5:n.45dup (BSCL2)
ENST00000524862.5:c.675dup (BSCL2)	ENSP00000433888.1:p.Leu226ThrfsTer?
ENST00000526426.1:n.190dup (BSCL2)
ENST00000531524.5:c.276dup (BSCL2)	ENSP00000436026.1:p.Leu93ThrfsTer5
ENST00000532115.5:n.145-280dup (BSCL2)
NM_001122955.3:c.675dup (BSCL2)	NP_001116427.1:p.Leu226ThrfsTer5
NM_001130702.2:c.483dup (BSCL2)	NP_001124174.2:p.Leu162ThrfsTer5
NM_032667.6:c.483dup (BSCL2)	NP_116056.3:p.Leu162ThrfsTer5
NR_037946.1:n.3195dup (HNRNPUL2-BSCL2)
NR_037948.1:n.1277dup (BSCL2)
NR_037949.1:n.1277dup (BSCL2)
NM_001122955.4:c.675dup (BSCL2) MANE Select	NP_001116427.1:p.Leu226ThrfsTer5
NM_001386027.1:c.675dup (BSCL2)	NP_001372956.1:p.Leu226ThrfsTer5
NM_001386028.1:c.675dup (BSCL2)	NP_001372957.1:p.Leu226ThrfsTer5