Canonical Allele Identifier: CA380962278

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• MyVariant Identifiers: chr11:g.62459926G>T (hg19) ; chr11:g.62692454G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692454G>T , CM000673.2:g.62692454G>T	GRCh38
NC_000011.9:g.62459926G>T , CM000673.1:g.62459926G>T	GRCh37
NC_000011.8:g.62216502G>T	NCBI36
NG_008461.1:g.22121C>A
NG_033077.1:g.2446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.977C>A (BSCL2)
ENST00000449636.6:c.293C>A (BSCL2)	ENSP00000405265.2:p.Ala98Glu
ENST00000524862.6:c.785C>A (BSCL2)	ENSP00000433888.2:p.Ala262Glu
ENST00000682003.1:n.828C>A (BSCL2)
ENST00000682223.1:c.785C>A (BSCL2)	ENSP00000508140.1:p.Ala262Glu
ENST00000682262.1:c.631-1033C>A (BSCL2)	ENSP00000507103.1:n.631-1033C>A
ENST00000682555.1:c.703C>A (BSCL2)	ENSP00000507814.1:p.Arg235=
ENST00000682644.1:n.1177C>A (BSCL2)
ENST00000682794.1:n.1095C>A (BSCL2)
ENST00000683025.1:c.*432C>A (BSCL2)	ENSP00000507028.1:n.*432C>A
ENST00000683296.1:c.785C>A (BSCL2)	ENSP00000507725.1:p.Ala262Glu
ENST00000683368.1:n.976C>A (BSCL2)
ENST00000683494.1:n.1366C>A (BSCL2)
ENST00000683846.1:n.1125C>A (BSCL2)
ENST00000683892.1:n.1287C>A (BSCL2)
ENST00000684067.1:c.785C>A (BSCL2)	ENSP00000506799.1:p.Ala262Glu
ENST00000684115.1:n.1366C>A (BSCL2)
ENST00000684258.1:n.1213C>A (BSCL2)
ENST00000684285.1:c.*292C>A (BSCL2)	ENSP00000507669.1:n.*292C>A
ENST00000684475.1:c.650C>A (BSCL2)	ENSP00000507429.1:p.Ala217Glu
ENST00000684609.1:n.1177C>A (BSCL2)
ENST00000684720.1:n.1177C>A (BSCL2)
ENST00000360796.10:c.785C>A (BSCL2) MANE Select	ENSP00000354032.5:p.Ala262Glu
ENST00000679883.1:c.785C>A (BSCL2)	ENSP00000505838.1:p.Ala262Glu
ENST00000278893.11:c.593C>A (BSCL2)	ENSP00000278893.7:p.Ala198Glu
ENST00000301781.10:c.730C>A (BSCL2)	ENSP00000301781.5:p.Arg244=
ENST00000360796.9:c.785C>A (BSCL2)	ENSP00000354032.5:p.Ala262Glu
ENST00000403098.6:c.107C>A (BSCL2)	ENSP00000384258.2:p.Ala36Glu
ENST00000403550.5:c.593C>A (BSCL2)	ENSP00000385561.1:p.Ala198Glu
ENST00000403734.2:c.*836C>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*836C>A
ENST00000405837.5:c.785C>A (BSCL2)	ENSP00000385332.1:p.Ala262Glu
ENST00000407022.7:c.593C>A (BSCL2)	ENSP00000384080.3:p.Ala198Glu
ENST00000412351.1:n.383C>A (BSCL2)
ENST00000421906.5:c.593C>A (BSCL2)	ENSP00000413209.1:p.Ala198Glu
ENST00000448568.6:c.593C>A (BSCL2)	ENSP00000413340.2:p.Ala198Glu
ENST00000468505.5:n.155C>A (BSCL2)
ENST00000526426.1:n.309C>A (BSCL2)
ENST00000532115.5:n.164C>A (BSCL2)
NM_001122955.3:c.785C>A (BSCL2)	NP_001116427.1:p.Ala262Glu
NM_001130702.2:c.593C>A (BSCL2)	NP_001124174.2:p.Ala198Glu
NM_032667.6:c.593C>A (BSCL2)	NP_116056.3:p.Ala198Glu
NR_037946.1:n.3305C>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1387C>A (BSCL2)
NR_037949.1:n.1387C>A (BSCL2)
NM_001122955.4:c.785C>A (BSCL2) MANE Select	NP_001116427.1:p.Ala262Glu
NM_001386027.1:c.785C>A (BSCL2)	NP_001372956.1:p.Ala262Glu
NM_001386028.1:c.785C>A (BSCL2)	NP_001372957.1:p.Ala262Glu