Canonical Allele Identifier: CA474866240

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• MyVariant Identifiers: chr11:g.62460186C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692714C>T , CM000673.2:g.62692714C>T	GRCh38
NC_000011.9:g.62460186C>T , CM000673.1:g.62460186C>T	GRCh37
NC_000011.8:g.62216762C>T	NCBI36
NG_008461.1:g.21861G>A
NG_033077.1:g.2186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.906G>A (BSCL2)
ENST00000449636.6:c.222G>A (BSCL2)	ENSP00000405265.2:p.Glu74=
ENST00000524862.6:c.714G>A (BSCL2)	ENSP00000433888.2:p.Glu238=
ENST00000682003.1:n.809-241G>A (BSCL2)
ENST00000682223.1:c.714G>A (BSCL2)	ENSP00000508140.1:p.Glu238=
ENST00000682262.1:c.631-1293G>A (BSCL2)	ENSP00000507103.1:n.631-1293G>A
ENST00000682555.1:c.632G>A (BSCL2)	ENSP00000507814.1:p.Ser211Asn
ENST00000682644.1:n.1106G>A (BSCL2)
ENST00000682794.1:n.1024G>A (BSCL2)
ENST00000683025.1:c.*361G>A (BSCL2)	ENSP00000507028.1:n.*361G>A
ENST00000683296.1:c.714G>A (BSCL2)	ENSP00000507725.1:p.Glu238=
ENST00000683368.1:n.905G>A (BSCL2)
ENST00000683494.1:n.1106G>A (BSCL2)
ENST00000683846.1:n.1054G>A (BSCL2)
ENST00000683892.1:n.1216G>A (BSCL2)
ENST00000684067.1:c.714G>A (BSCL2)	ENSP00000506799.1:p.Glu238=
ENST00000684115.1:n.1106G>A (BSCL2)
ENST00000684258.1:n.1142G>A (BSCL2)
ENST00000684285.1:c.*221G>A (BSCL2)	ENSP00000507669.1:n.*221G>A
ENST00000684475.1:c.631-241G>A (BSCL2)	ENSP00000507429.1:n.631-241G>A
ENST00000684609.1:n.1106G>A (BSCL2)
ENST00000684720.1:n.1106G>A (BSCL2)
ENST00000360796.10:c.714G>A (BSCL2) MANE Select	ENSP00000354032.5:p.Glu238=
ENST00000679883.1:c.714G>A (BSCL2)	ENSP00000505838.1:p.Glu238=
ENST00000278893.11:c.522G>A (BSCL2)	ENSP00000278893.7:p.Glu174=
ENST00000301781.10:c.659G>A (BSCL2)	ENSP00000301781.5:p.Ser220Asn
ENST00000360796.9:c.714G>A (BSCL2)	ENSP00000354032.5:p.Glu238=
ENST00000403098.6:c.36G>A (BSCL2)	ENSP00000384258.2:p.Glu12=
ENST00000403550.5:c.522G>A (BSCL2)	ENSP00000385561.1:p.Glu174=
ENST00000403734.2:c.*765G>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*765G>A
ENST00000405837.5:c.714G>A (BSCL2)	ENSP00000385332.1:p.Glu238=
ENST00000407022.7:c.522G>A (BSCL2)	ENSP00000384080.3:p.Glu174=
ENST00000412351.1:n.312G>A (BSCL2)
ENST00000421906.5:c.522G>A (BSCL2)	ENSP00000413209.1:p.Glu174=
ENST00000448568.6:c.522G>A (BSCL2)	ENSP00000413340.2:p.Glu174=
ENST00000468505.5:n.84G>A (BSCL2)
ENST00000526426.1:n.229G>A (BSCL2)
ENST00000531524.5:c.315G>A (BSCL2)	ENSP00000436026.1:p.Glu105=
ENST00000532115.5:n.145-241G>A (BSCL2)
NM_001122955.3:c.714G>A (BSCL2)	NP_001116427.1:p.Glu238=
NM_001130702.2:c.522G>A (BSCL2)	NP_001124174.2:p.Glu174=
NM_032667.6:c.522G>A (BSCL2)	NP_116056.3:p.Glu174=
NR_037946.1:n.3234G>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1316G>A (BSCL2)
NR_037949.1:n.1316G>A (BSCL2)
NM_001122955.4:c.714G>A (BSCL2) MANE Select	NP_001116427.1:p.Glu238=
NM_001386027.1:c.714G>A (BSCL2)	NP_001372956.1:p.Glu238=
NM_001386028.1:c.714G>A (BSCL2)	NP_001372957.1:p.Glu238=