Canonical Allele Identifier: CA16042200

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62691423T>C , CM000673.2:g.62691423T>C	GRCh38
NC_000011.9:g.62458895T>C , CM000673.1:g.62458895T>C	GRCh37
NC_000011.8:g.62215471T>C	NCBI36
NG_008461.1:g.23152A>G
NG_033077.1:g.3477A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001122955.4:c.864-2A>G (BSCL2) MANE Select	NP_001116427.1:n.864-2A>G
ENST00000360796.10:c.864-2A>G (BSCL2) MANE Select	ENSP00000354032.5:n.864-2A>G
NM_001122955.3:c.864-2A>G (BSCL2)	NP_001116427.1:n.864-2A>G
NM_001130702.2:c.672-282A>G (BSCL2)	NP_001124174.2:n.672-282A>G
NM_001386027.1:c.864-2A>G (BSCL2)	NP_001372956.1:n.864-2A>G
NM_001386028.1:c.864-2A>G (BSCL2)	NP_001372957.1:n.864-2A>G
NM_032667.6:c.672-2A>G (BSCL2)	NP_116056.3:n.672-2A>G
NR_037946.1:n.3384-2A>G (HNRNPUL2-BSCL2)
NR_037948.1:n.1466-2A>G (BSCL2)
NR_037949.1:n.1466-2A>G (BSCL2)
ENST00000278893.11:c.672-282A>G (BSCL2)	ENSP00000278893.7:n.672-282A>G
ENST00000301781.10:c.809-2A>G (BSCL2)	ENSP00000301781.5:n.809-2A>G
ENST00000360796.9:c.864-2A>G (BSCL2)	ENSP00000354032.5:n.864-2A>G
ENST00000403098.6:c.185+953A>G (BSCL2)	ENSP00000384258.2:n.185+953A>G
ENST00000403550.5:c.672-2A>G (BSCL2)	ENSP00000385561.1:n.672-2A>G
ENST00000403734.2:c.*915-2A>G (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*915-2A>G
ENST00000405837.5:c.864-2A>G (BSCL2)	ENSP00000385332.1:n.864-2A>G
ENST00000407022.7:c.672-2A>G (BSCL2)	ENSP00000384080.3:n.672-2A>G
ENST00000412351.1:n.462-2A>G (BSCL2)
ENST00000412351.2:n.1056-2A>G (BSCL2)
ENST00000421906.5:c.672-2A>G (BSCL2)	ENSP00000413209.1:n.672-2A>G
ENST00000449636.6:c.372-2A>G (BSCL2)	ENSP00000405265.2:n.372-2A>G
ENST00000463679.6:n.507A>G (BSCL2)
ENST00000468505.5:n.234-2A>G (BSCL2)
ENST00000524862.6:c.864-2A>G (BSCL2)	ENSP00000433888.2:n.864-2A>G
ENST00000532115.5:n.243-2A>G (BSCL2)
ENST00000679883.1:c.864-2A>G (BSCL2)	ENSP00000505838.1:n.864-2A>G
ENST00000682003.1:n.907-2A>G (BSCL2)
ENST00000682223.1:c.864-2A>G (BSCL2)	ENSP00000508140.1:n.864-2A>G
ENST00000682262.1:c.631-2A>G (BSCL2)	ENSP00000507103.1:n.631-2A>G
ENST00000682555.1:c.782-2A>G (BSCL2)	ENSP00000507814.1:n.782-2A>G
ENST00000682644.1:n.1256-2A>G (BSCL2)
ENST00000682794.1:n.1174-2A>G (BSCL2)
ENST00000683025.1:c.*511-2A>G (BSCL2)	ENSP00000507028.1:n.*511-2A>G
ENST00000683193.1:n.444A>G (BSCL2)
ENST00000683296.1:c.864-2A>G (BSCL2)	ENSP00000507725.1:n.864-2A>G
ENST00000683368.1:n.1055-2A>G (BSCL2)
ENST00000683494.1:n.2397A>G (BSCL2)
ENST00000683846.1:n.1204-2A>G (BSCL2)
ENST00000683892.1:n.1366-2A>G (BSCL2)
ENST00000684067.1:c.864-2A>G (BSCL2)	ENSP00000506799.1:n.864-2A>G
ENST00000684115.1:n.1445-2A>G (BSCL2)
ENST00000684258.1:n.1292-2A>G (BSCL2)
ENST00000684285.1:c.*371-2A>G (BSCL2)	ENSP00000507669.1:n.*371-2A>G
ENST00000684475.1:c.729-2A>G (BSCL2)	ENSP00000507429.1:n.729-2A>G
ENST00000684609.1:n.1256-2A>G (BSCL2)
ENST00000684720.1:n.2208A>G (BSCL2)