Canonical Allele Identifier: CA6053405

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62691351C>T , CM000673.2:g.62691351C>T	GRCh38
NC_000011.9:g.62458823C>T , CM000673.1:g.62458823C>T	GRCh37
NC_000011.8:g.62215399C>T	NCBI36
NG_008461.1:g.23224G>A
NG_033077.1:g.3549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1126G>A (BSCL2)
ENST00000449636.6:c.442G>A (BSCL2)	ENSP00000405265.2:p.Val148Ile
ENST00000463679.6:n.579G>A (BSCL2)
ENST00000524862.6:c.934G>A (BSCL2)	ENSP00000433888.2:p.Val312Ile
ENST00000682003.1:n.977G>A (BSCL2)
ENST00000682223.1:c.934G>A (BSCL2)	ENSP00000508140.1:p.Val312Ile
ENST00000682262.1:c.701G>A (BSCL2)	ENSP00000507103.1:p.Arg234His
ENST00000682555.1:c.*45G>A (BSCL2)	ENSP00000507814.1:n.*45G>A
ENST00000682644.1:n.1326G>A (BSCL2)
ENST00000682794.1:n.1244G>A (BSCL2)
ENST00000683025.1:c.*581G>A (BSCL2)	ENSP00000507028.1:n.*581G>A
ENST00000683193.1:n.516G>A (BSCL2)
ENST00000683296.1:c.934G>A (BSCL2)	ENSP00000507725.1:p.Val312Ile
ENST00000683368.1:n.1125G>A (BSCL2)
ENST00000683494.1:n.2469G>A (BSCL2)
ENST00000683846.1:n.1274G>A (BSCL2)
ENST00000683892.1:n.1436G>A (BSCL2)
ENST00000684067.1:c.934G>A (BSCL2)	ENSP00000506799.1:p.Val312Ile
ENST00000684115.1:n.1515G>A (BSCL2)
ENST00000684258.1:n.1362G>A (BSCL2)
ENST00000684285.1:c.*441G>A (BSCL2)	ENSP00000507669.1:n.*441G>A
ENST00000684475.1:c.799G>A (BSCL2)	ENSP00000507429.1:p.Val267Ile
ENST00000684609.1:n.1326G>A (BSCL2)
ENST00000684720.1:n.2280G>A (BSCL2)
ENST00000360796.10:c.934G>A (BSCL2) MANE Select	ENSP00000354032.5:p.Val312Ile
ENST00000679883.1:c.934G>A (BSCL2)	ENSP00000505838.1:p.Val312Ile
ENST00000278893.11:c.672-210G>A (BSCL2)	ENSP00000278893.7:n.672-210G>A
ENST00000301781.10:c.*45G>A (BSCL2)	ENSP00000301781.5:n.*45G>A
ENST00000360796.9:c.934G>A (BSCL2)	ENSP00000354032.5:p.Val312Ile
ENST00000403098.6:c.186-930G>A (BSCL2)	ENSP00000384258.2:n.186-930G>A
ENST00000403550.5:c.742G>A (BSCL2)	ENSP00000385561.1:p.Val248Ile
ENST00000403734.2:c.*985G>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*985G>A
ENST00000405837.5:c.934G>A (BSCL2)	ENSP00000385332.1:p.Val312Ile
ENST00000407022.7:c.742G>A (BSCL2)	ENSP00000384080.3:p.Val248Ile
ENST00000421906.5:c.742G>A (BSCL2)	ENSP00000413209.1:p.Val248Ile
ENST00000468505.5:n.304G>A (BSCL2)
ENST00000532115.5:n.313G>A (BSCL2)
NM_001122955.3:c.934G>A (BSCL2)	NP_001116427.1:p.Val312Ile
NM_001130702.2:c.672-210G>A (BSCL2)	NP_001124174.2:n.672-210G>A
NM_032667.6:c.742G>A (BSCL2)	NP_116056.3:p.Val248Ile
NR_037946.1:n.3454G>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1536G>A (BSCL2)
NR_037949.1:n.1536G>A (BSCL2)
NM_001122955.4:c.934G>A (BSCL2) MANE Select	NP_001116427.1:p.Val312Ile
NM_001386027.1:c.934G>A (BSCL2)	NP_001372956.1:p.Val312Ile
NM_001386028.1:c.934G>A (BSCL2)	NP_001372957.1:p.Val312Ile