Canonical Allele Identifier: CA380961914

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 849353
• ClinVar RCV Id: RCV001053294
• dbSNP Id: rs1945335146
• MyVariant Identifiers: chr11:g.62459852G>A (hg19) ; chr11:g.62692380G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692380G>A , CM000673.2:g.62692380G>A	GRCh38
NC_000011.9:g.62459852G>A , CM000673.1:g.62459852G>A	GRCh37
NC_000011.8:g.62216428G>A	NCBI36
NG_008461.1:g.22195C>T
NG_033077.1:g.2520C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.1051C>T (BSCL2)
ENST00000449636.6:c.367C>T (BSCL2)	ENSP00000405265.2:p.Leu123Phe
ENST00000524862.6:c.859C>T (BSCL2)	ENSP00000433888.2:p.Leu287Phe
ENST00000682003.1:n.902C>T (BSCL2)
ENST00000682223.1:c.859C>T (BSCL2)	ENSP00000508140.1:p.Leu287Phe
ENST00000682262.1:c.631-959C>T (BSCL2)	ENSP00000507103.1:n.631-959C>T
ENST00000682555.1:c.777C>T (BSCL2)	ENSP00000507814.1:p.Gly259=
ENST00000682644.1:n.1251C>T (BSCL2)
ENST00000682794.1:n.1169C>T (BSCL2)
ENST00000683025.1:c.*506C>T (BSCL2)	ENSP00000507028.1:n.*506C>T
ENST00000683296.1:c.859C>T (BSCL2)	ENSP00000507725.1:p.Leu287Phe
ENST00000683368.1:n.1050C>T (BSCL2)
ENST00000683494.1:n.1440C>T (BSCL2)
ENST00000683846.1:n.1199C>T (BSCL2)
ENST00000683892.1:n.1361C>T (BSCL2)
ENST00000684067.1:c.859C>T (BSCL2)	ENSP00000506799.1:p.Leu287Phe
ENST00000684115.1:n.1440C>T (BSCL2)
ENST00000684258.1:n.1287C>T (BSCL2)
ENST00000684285.1:c.*366C>T (BSCL2)	ENSP00000507669.1:n.*366C>T
ENST00000684475.1:c.724C>T (BSCL2)	ENSP00000507429.1:p.Leu242Phe
ENST00000684609.1:n.1251C>T (BSCL2)
ENST00000684720.1:n.1251C>T (BSCL2)
ENST00000360796.10:c.859C>T (BSCL2) MANE Select	ENSP00000354032.5:p.Leu287Phe
ENST00000679883.1:c.859C>T (BSCL2)	ENSP00000505838.1:p.Leu287Phe
ENST00000278893.11:c.667C>T (BSCL2)	ENSP00000278893.7:p.Leu223Phe
ENST00000301781.10:c.804C>T (BSCL2)	ENSP00000301781.5:p.Gly268=
ENST00000360796.9:c.859C>T (BSCL2)	ENSP00000354032.5:p.Leu287Phe
ENST00000403098.6:c.181C>T (BSCL2)	ENSP00000384258.2:p.Leu61Phe
ENST00000403550.5:c.667C>T (BSCL2)	ENSP00000385561.1:p.Leu223Phe
ENST00000403734.2:c.*910C>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*910C>T
ENST00000405837.5:c.859C>T (BSCL2)	ENSP00000385332.1:p.Leu287Phe
ENST00000407022.7:c.667C>T (BSCL2)	ENSP00000384080.3:p.Leu223Phe
ENST00000412351.1:n.457C>T (BSCL2)
ENST00000421906.5:c.667C>T (BSCL2)	ENSP00000413209.1:p.Leu223Phe
ENST00000448568.6:c.667C>T (BSCL2)	ENSP00000413340.2:p.Leu223Phe
ENST00000468505.5:n.229C>T (BSCL2)
ENST00000532115.5:n.238C>T (BSCL2)
NM_001122955.3:c.859C>T (BSCL2)	NP_001116427.1:p.Leu287Phe
NM_001130702.2:c.667C>T (BSCL2)	NP_001124174.2:p.Leu223Phe
NM_032667.6:c.667C>T (BSCL2)	NP_116056.3:p.Leu223Phe
NR_037946.1:n.3379C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1461C>T (BSCL2)
NR_037949.1:n.1461C>T (BSCL2)
NM_001122955.4:c.859C>T (BSCL2) MANE Select	NP_001116427.1:p.Leu287Phe
NM_001386027.1:c.859C>T (BSCL2)	NP_001372956.1:p.Leu287Phe
NM_001386028.1:c.859C>T (BSCL2)	NP_001372957.1:p.Leu287Phe