Canonical Allele Identifier: CA6053390

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62691293C>T , CM000673.2:g.62691293C>T	GRCh38
NC_000011.9:g.62458765C>T , CM000673.1:g.62458765C>T	GRCh37
NC_000011.8:g.62215341C>T	NCBI36
NG_008461.1:g.23282G>A
NG_033077.1:g.3607G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122955.4:c.992G>A (BSCL2) MANE Select	NP_001116427.1:p.Arg331His
ENST00000360796.10:c.992G>A (BSCL2) MANE Select	ENSP00000354032.5:p.Arg331His
NM_001122955.3:c.992G>A (BSCL2)	NP_001116427.1:p.Arg331His
NM_001130702.2:c.672-152G>A (BSCL2)	NP_001124174.2:n.672-152G>A
NM_001386027.1:c.992G>A (BSCL2)	NP_001372956.1:p.Arg331His
NM_001386028.1:c.992G>A (BSCL2)	NP_001372957.1:p.Arg331His
NM_032667.6:c.800G>A (BSCL2)	NP_116056.3:p.Arg267His
NR_037946.1:n.3512G>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1594G>A (BSCL2)
NR_037949.1:n.1594G>A (BSCL2)
ENST00000278893.11:c.672-152G>A (BSCL2)	ENSP00000278893.7:n.672-152G>A
ENST00000301781.10:c.*103G>A (BSCL2)	ENSP00000301781.5:n.*103G>A
ENST00000360796.9:c.992G>A (BSCL2)	ENSP00000354032.5:p.Arg331His
ENST00000403098.6:c.186-872G>A (BSCL2)	ENSP00000384258.2:n.186-872G>A
ENST00000403550.5:c.800G>A (BSCL2)	ENSP00000385561.1:p.Arg267His
ENST00000403734.2:c.*1043G>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*1043G>A
ENST00000405837.5:c.992G>A (BSCL2)	ENSP00000385332.1:p.Arg331His
ENST00000407022.7:c.800G>A (BSCL2)	ENSP00000384080.3:p.Arg267His
ENST00000412351.2:n.1184G>A (BSCL2)
ENST00000421906.5:c.800G>A (BSCL2)	ENSP00000413209.1:p.Arg267His
ENST00000449636.5:c.47G>A (BSCL2)	ENSP00000405265.1:p.Arg16His
ENST00000449636.6:c.500G>A (BSCL2)	ENSP00000405265.2:p.Arg167His
ENST00000463679.5:n.50G>A (BSCL2)
ENST00000463679.6:n.637G>A (BSCL2)
ENST00000468505.5:n.362G>A (BSCL2)
ENST00000524862.6:c.992G>A (BSCL2)	ENSP00000433888.2:p.Arg331His
ENST00000679883.1:c.992G>A (BSCL2)	ENSP00000505838.1:p.Arg331His
ENST00000682003.1:n.1035G>A (BSCL2)
ENST00000682223.1:c.992G>A (BSCL2)	ENSP00000508140.1:p.Arg331His
ENST00000682262.1:c.759G>A (BSCL2)	ENSP00000507103.1:p.Pro253=
ENST00000682555.1:c.*103G>A (BSCL2)	ENSP00000507814.1:n.*103G>A
ENST00000682644.1:n.1384G>A (BSCL2)
ENST00000682794.1:n.1302G>A (BSCL2)
ENST00000683025.1:c.*639G>A (BSCL2)	ENSP00000507028.1:n.*639G>A
ENST00000683193.1:n.574G>A (BSCL2)
ENST00000683296.1:c.992G>A (BSCL2)	ENSP00000507725.1:p.Arg331His
ENST00000683368.1:n.1183G>A (BSCL2)
ENST00000683494.1:n.2527G>A (BSCL2)
ENST00000683846.1:n.1332G>A (BSCL2)
ENST00000683892.1:n.1494G>A (BSCL2)
ENST00000684067.1:c.992G>A (BSCL2)	ENSP00000506799.1:p.Arg331His
ENST00000684115.1:n.1573G>A (BSCL2)
ENST00000684258.1:n.1420G>A (BSCL2)
ENST00000684285.1:c.*499G>A (BSCL2)	ENSP00000507669.1:n.*499G>A
ENST00000684475.1:c.857G>A (BSCL2)	ENSP00000507429.1:p.Arg286His
ENST00000684609.1:n.1384G>A (BSCL2)
ENST00000684720.1:n.2338G>A (BSCL2)