Canonical Allele Identifier: CA380968228

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62702467C>T , CM000673.2:g.62702467C>T	GRCh38
NC_000011.9:g.62469939C>T , CM000673.1:g.62469939C>T	GRCh37
NC_000011.8:g.62226515C>T	NCBI36
NG_008461.1:g.12108G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122955.4:c.486+1G>A (BSCL2) MANE Select	NP_001116427.1:n.486+1G>A
ENST00000360796.10:c.486+1G>A (BSCL2) MANE Select	ENSP00000354032.5:n.486+1G>A
NM_001122955.3:c.486+1G>A (BSCL2)	NP_001116427.1:n.486+1G>A
NM_001130702.2:c.294+1G>A (BSCL2)	NP_001124174.2:n.294+1G>A
NM_001386027.1:c.486+1G>A (BSCL2)	NP_001372956.1:n.486+1G>A
NM_001386028.1:c.486+1G>A (BSCL2)	NP_001372957.1:n.486+1G>A
NM_032667.6:c.294+1G>A (BSCL2)	NP_116056.3:n.294+1G>A
NR_037946.1:n.3006+1G>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1088+1G>A (BSCL2)
NR_037949.1:n.1088+1G>A (BSCL2)
ENST00000278893.11:c.294+1G>A (BSCL2)	ENSP00000278893.7:n.294+1G>A
ENST00000301781.10:c.486+1G>A (BSCL2)	ENSP00000301781.5:n.486+1G>A
ENST00000360796.9:c.486+1G>A (BSCL2)	ENSP00000354032.5:n.486+1G>A
ENST00000403550.5:c.294+1G>A (BSCL2)	ENSP00000385561.1:n.294+1G>A
ENST00000403734.2:c.*537+1G>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*537+1G>A
ENST00000405837.5:c.486+1G>A (BSCL2)	ENSP00000385332.1:n.486+1G>A
ENST00000407022.7:c.294+1G>A (BSCL2)	ENSP00000384080.3:n.294+1G>A
ENST00000421906.5:c.294+1G>A (BSCL2)	ENSP00000413209.1:n.294+1G>A
ENST00000448568.6:c.294+1G>A (BSCL2)	ENSP00000413340.2:n.294+1G>A
ENST00000449636.6:c.-7+1G>A (BSCL2)	ENSP00000405265.2:n.-7+1G>A
ENST00000524862.5:c.486+1G>A (BSCL2)	ENSP00000433888.1:n.486+1G>A
ENST00000524862.6:c.486+1G>A (BSCL2)	ENSP00000433888.2:n.486+1G>A
ENST00000525000.5:c.118+1G>A (BSCL2)
ENST00000530900.1:n.286+1G>A (BSCL2)
ENST00000531524.5:c.87+4642G>A (BSCL2)	ENSP00000436026.1:n.87+4642G>A
ENST00000533982.1:c.294+1G>A (BSCL2)	ENSP00000434149.1:n.294+1G>A
ENST00000537604.5:n.537+1G>A (BSCL2)
ENST00000679883.1:c.486+1G>A (BSCL2)	ENSP00000505838.1:n.486+1G>A
ENST00000682003.1:n.664+1G>A (BSCL2)
ENST00000682223.1:c.486+1G>A (BSCL2)	ENSP00000508140.1:n.486+1G>A
ENST00000682262.1:c.486+1G>A (BSCL2)	ENSP00000507103.1:n.486+1G>A
ENST00000682555.1:c.486+1G>A (BSCL2)	ENSP00000507814.1:n.486+1G>A
ENST00000682644.1:n.878+1G>A (BSCL2)
ENST00000682794.1:n.796+2834G>A (BSCL2)
ENST00000683025.1:c.486+1G>A (BSCL2)	ENSP00000507028.1:n.486+1G>A
ENST00000683296.1:c.486+1G>A (BSCL2)	ENSP00000507725.1:n.486+1G>A
ENST00000683494.1:n.878+1G>A (BSCL2)
ENST00000683892.1:n.988+1G>A (BSCL2)
ENST00000684067.1:c.486+1G>A (BSCL2)	ENSP00000506799.1:n.486+1G>A
ENST00000684115.1:n.878+1G>A (BSCL2)
ENST00000684285.1:c.404+2834G>A (BSCL2)	ENSP00000507669.1:n.404+2834G>A
ENST00000684475.1:c.486+1G>A (BSCL2)	ENSP00000507429.1:n.486+1G>A
ENST00000684609.1:n.878+1G>A (BSCL2)
ENST00000684720.1:n.878+1G>A (BSCL2)