Canonical Allele Identifier: CA380962292

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• MyVariant Identifiers: chr11:g.62459929C>G (hg19) ; chr11:g.62692457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692457C>G , CM000673.2:g.62692457C>G	GRCh38
NC_000011.9:g.62459929C>G , CM000673.1:g.62459929C>G	GRCh37
NC_000011.8:g.62216505C>G	NCBI36
NG_008461.1:g.22118G>C
NG_033077.1:g.2443G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.974G>C (BSCL2)
ENST00000449636.6:c.290G>C (BSCL2)	ENSP00000405265.2:p.Gly97Ala
ENST00000524862.6:c.782G>C (BSCL2)	ENSP00000433888.2:p.Gly261Ala
ENST00000682003.1:n.825G>C (BSCL2)
ENST00000682223.1:c.782G>C (BSCL2)	ENSP00000508140.1:p.Gly261Ala
ENST00000682262.1:c.631-1036G>C (BSCL2)	ENSP00000507103.1:n.631-1036G>C
ENST00000682555.1:c.700G>C (BSCL2)	ENSP00000507814.1:p.Glu234Gln
ENST00000682644.1:n.1174G>C (BSCL2)
ENST00000682794.1:n.1092G>C (BSCL2)
ENST00000683025.1:c.*429G>C (BSCL2)	ENSP00000507028.1:n.*429G>C
ENST00000683296.1:c.782G>C (BSCL2)	ENSP00000507725.1:p.Gly261Ala
ENST00000683368.1:n.973G>C (BSCL2)
ENST00000683494.1:n.1363G>C (BSCL2)
ENST00000683846.1:n.1122G>C (BSCL2)
ENST00000683892.1:n.1284G>C (BSCL2)
ENST00000684067.1:c.782G>C (BSCL2)	ENSP00000506799.1:p.Gly261Ala
ENST00000684115.1:n.1363G>C (BSCL2)
ENST00000684258.1:n.1210G>C (BSCL2)
ENST00000684285.1:c.*289G>C (BSCL2)	ENSP00000507669.1:n.*289G>C
ENST00000684475.1:c.647G>C (BSCL2)	ENSP00000507429.1:p.Gly216Ala
ENST00000684609.1:n.1174G>C (BSCL2)
ENST00000684720.1:n.1174G>C (BSCL2)
ENST00000360796.10:c.782G>C (BSCL2) MANE Select	ENSP00000354032.5:p.Gly261Ala
ENST00000679883.1:c.782G>C (BSCL2)	ENSP00000505838.1:p.Gly261Ala
ENST00000278893.11:c.590G>C (BSCL2)	ENSP00000278893.7:p.Gly197Ala
ENST00000301781.10:c.727G>C (BSCL2)	ENSP00000301781.5:p.Glu243Gln
ENST00000360796.9:c.782G>C (BSCL2)	ENSP00000354032.5:p.Gly261Ala
ENST00000403098.6:c.104G>C (BSCL2)	ENSP00000384258.2:p.Gly35Ala
ENST00000403550.5:c.590G>C (BSCL2)	ENSP00000385561.1:p.Gly197Ala
ENST00000403734.2:c.*833G>C (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*833G>C
ENST00000405837.5:c.782G>C (BSCL2)	ENSP00000385332.1:p.Gly261Ala
ENST00000407022.7:c.590G>C (BSCL2)	ENSP00000384080.3:p.Gly197Ala
ENST00000412351.1:n.380G>C (BSCL2)
ENST00000421906.5:c.590G>C (BSCL2)	ENSP00000413209.1:p.Gly197Ala
ENST00000448568.6:c.590G>C (BSCL2)	ENSP00000413340.2:p.Gly197Ala
ENST00000468505.5:n.152G>C (BSCL2)
ENST00000526426.1:n.306G>C (BSCL2)
ENST00000532115.5:n.161G>C (BSCL2)
NM_001122955.3:c.782G>C (BSCL2)	NP_001116427.1:p.Gly261Ala
NM_001130702.2:c.590G>C (BSCL2)	NP_001124174.2:p.Gly197Ala
NM_032667.6:c.590G>C (BSCL2)	NP_116056.3:p.Gly197Ala
NR_037946.1:n.3302G>C (HNRNPUL2-BSCL2)
NR_037948.1:n.1384G>C (BSCL2)
NR_037949.1:n.1384G>C (BSCL2)
NM_001122955.4:c.782G>C (BSCL2) MANE Select	NP_001116427.1:p.Gly261Ala
NM_001386027.1:c.782G>C (BSCL2)	NP_001372956.1:p.Gly261Ala
NM_001386028.1:c.782G>C (BSCL2)	NP_001372957.1:p.Gly261Ala