Canonical Allele Identifier: CA380966360

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62694712C>T , CM000673.2:g.62694712C>T	GRCh38
NC_000011.9:g.62462184C>T , CM000673.1:g.62462184C>T	GRCh37
NC_000011.8:g.62218760C>T	NCBI36
NG_008461.1:g.19863G>A
NG_033077.1:g.188G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122955.4:c.487-1G>A (BSCL2) MANE Select	NP_001116427.1:n.487-1G>A
ENST00000360796.10:c.487-1G>A (BSCL2) MANE Select	ENSP00000354032.5:n.487-1G>A
NM_001122955.3:c.487-1G>A (BSCL2)	NP_001116427.1:n.487-1G>A
NM_001130702.2:c.295-1G>A (BSCL2)	NP_001124174.2:n.295-1G>A
NM_001386027.1:c.487-1G>A (BSCL2)	NP_001372956.1:n.487-1G>A
NM_001386028.1:c.487-1G>A (BSCL2)	NP_001372957.1:n.487-1G>A
NM_032667.6:c.295-1G>A (BSCL2)	NP_116056.3:n.295-1G>A
NR_037946.1:n.3007-1G>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1089-1G>A (BSCL2)
NR_037949.1:n.1089-1G>A (BSCL2)
ENST00000278893.11:c.295-1G>A (BSCL2)	ENSP00000278893.7:n.295-1G>A
ENST00000301781.10:c.487-1G>A (BSCL2)	ENSP00000301781.5:n.487-1G>A
ENST00000360796.9:c.487-1G>A (BSCL2)	ENSP00000354032.5:n.487-1G>A
ENST00000403550.5:c.295-1G>A (BSCL2)	ENSP00000385561.1:n.295-1G>A
ENST00000403734.2:c.*538-1G>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*538-1G>A
ENST00000405837.5:c.487-1G>A (BSCL2)	ENSP00000385332.1:n.487-1G>A
ENST00000407022.7:c.295-1G>A (BSCL2)	ENSP00000384080.3:n.295-1G>A
ENST00000412351.1:n.85-1G>A (BSCL2)
ENST00000412351.2:n.678G>A (BSCL2)
ENST00000421906.5:c.295-1G>A (BSCL2)	ENSP00000413209.1:n.295-1G>A
ENST00000448568.6:c.295-1G>A (BSCL2)	ENSP00000413340.2:n.295-1G>A
ENST00000449636.6:c.-6-1G>A (BSCL2)	ENSP00000405265.2:n.-6-1G>A
ENST00000524862.5:c.487-1G>A (BSCL2)	ENSP00000433888.1:n.487-1G>A
ENST00000524862.6:c.487-1G>A (BSCL2)	ENSP00000433888.2:n.487-1G>A
ENST00000525000.5:c.119-1G>A (BSCL2)
ENST00000526426.1:n.1G>A (BSCL2)
ENST00000530900.1:n.287-1G>A (BSCL2)
ENST00000531524.5:c.88-1G>A (BSCL2)	ENSP00000436026.1:n.88-1G>A
ENST00000533982.1:c.295-1G>A (BSCL2)	ENSP00000434149.1:n.295-1G>A
ENST00000537604.5:n.538-1G>A (BSCL2)
ENST00000679883.1:c.487-1G>A (BSCL2)	ENSP00000505838.1:n.487-1G>A
ENST00000682003.1:n.665-1G>A (BSCL2)
ENST00000682223.1:c.487-1G>A (BSCL2)	ENSP00000508140.1:n.487-1G>A
ENST00000682262.1:c.487-1G>A (BSCL2)	ENSP00000507103.1:n.487-1G>A
ENST00000682555.1:c.487-1G>A (BSCL2)	ENSP00000507814.1:n.487-1G>A
ENST00000682644.1:n.879-1G>A (BSCL2)
ENST00000682794.1:n.797-1G>A (BSCL2)
ENST00000683025.1:c.*134-1G>A (BSCL2)	ENSP00000507028.1:n.*134-1G>A
ENST00000683296.1:c.487-1G>A (BSCL2)	ENSP00000507725.1:n.487-1G>A
ENST00000683368.1:n.677G>A (BSCL2)
ENST00000683494.1:n.879-1G>A (BSCL2)
ENST00000683846.1:n.826G>A (BSCL2)
ENST00000683892.1:n.989-1G>A (BSCL2)
ENST00000684067.1:c.487-1G>A (BSCL2)	ENSP00000506799.1:n.487-1G>A
ENST00000684115.1:n.879-1G>A (BSCL2)
ENST00000684258.1:n.914G>A (BSCL2)
ENST00000684285.1:c.405-1G>A (BSCL2)	ENSP00000507669.1:n.405-1G>A
ENST00000684475.1:c.487-1G>A (BSCL2)	ENSP00000507429.1:n.487-1G>A
ENST00000684609.1:n.879-1G>A (BSCL2)
ENST00000684720.1:n.879-1G>A (BSCL2)