Canonical Allele Identifier: CA380962133

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 1378800
• ClinVar RCV Id: RCV001914690
• dbSNP Id: rs2134695330
• MyVariant Identifiers: chr11:g.62459899A>T (hg19) ; chr11:g.62692427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692427A>T , CM000673.2:g.62692427A>T	GRCh38
NC_000011.9:g.62459899A>T , CM000673.1:g.62459899A>T	GRCh37
NC_000011.8:g.62216475A>T	NCBI36
NG_008461.1:g.22148T>A
NG_033077.1:g.2473T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1004T>A (BSCL2)
ENST00000449636.6:c.320T>A (BSCL2)	ENSP00000405265.2:p.Ile107Asn
ENST00000524862.6:c.812T>A (BSCL2)	ENSP00000433888.2:p.Ile271Asn
ENST00000682003.1:n.855T>A (BSCL2)
ENST00000682223.1:c.812T>A (BSCL2)	ENSP00000508140.1:p.Ile271Asn
ENST00000682262.1:c.631-1006T>A (BSCL2)	ENSP00000507103.1:n.631-1006T>A
ENST00000682555.1:c.730T>A (BSCL2)	ENSP00000507814.1:p.Ser244Thr
ENST00000682644.1:n.1204T>A (BSCL2)
ENST00000682794.1:n.1122T>A (BSCL2)
ENST00000683025.1:c.*459T>A (BSCL2)	ENSP00000507028.1:n.*459T>A
ENST00000683296.1:c.812T>A (BSCL2)	ENSP00000507725.1:p.Ile271Asn
ENST00000683368.1:n.1003T>A (BSCL2)
ENST00000683494.1:n.1393T>A (BSCL2)
ENST00000683846.1:n.1152T>A (BSCL2)
ENST00000683892.1:n.1314T>A (BSCL2)
ENST00000684067.1:c.812T>A (BSCL2)	ENSP00000506799.1:p.Ile271Asn
ENST00000684115.1:n.1393T>A (BSCL2)
ENST00000684258.1:n.1240T>A (BSCL2)
ENST00000684285.1:c.*319T>A (BSCL2)	ENSP00000507669.1:n.*319T>A
ENST00000684475.1:c.677T>A (BSCL2)	ENSP00000507429.1:p.Ile226Asn
ENST00000684609.1:n.1204T>A (BSCL2)
ENST00000684720.1:n.1204T>A (BSCL2)
ENST00000360796.10:c.812T>A (BSCL2) MANE Select	ENSP00000354032.5:p.Ile271Asn
ENST00000679883.1:c.812T>A (BSCL2)	ENSP00000505838.1:p.Ile271Asn
ENST00000278893.11:c.620T>A (BSCL2)	ENSP00000278893.7:p.Ile207Asn
ENST00000301781.10:c.757T>A (BSCL2)	ENSP00000301781.5:p.Ser253Thr
ENST00000360796.9:c.812T>A (BSCL2)	ENSP00000354032.5:p.Ile271Asn
ENST00000403098.6:c.134T>A (BSCL2)	ENSP00000384258.2:p.Ile45Asn
ENST00000403550.5:c.620T>A (BSCL2)	ENSP00000385561.1:p.Ile207Asn
ENST00000403734.2:c.*863T>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*863T>A
ENST00000405837.5:c.812T>A (BSCL2)	ENSP00000385332.1:p.Ile271Asn
ENST00000407022.7:c.620T>A (BSCL2)	ENSP00000384080.3:p.Ile207Asn
ENST00000412351.1:n.410T>A (BSCL2)
ENST00000421906.5:c.620T>A (BSCL2)	ENSP00000413209.1:p.Ile207Asn
ENST00000448568.6:c.620T>A (BSCL2)	ENSP00000413340.2:p.Ile207Asn
ENST00000468505.5:n.182T>A (BSCL2)
ENST00000526426.1:n.336T>A (BSCL2)
ENST00000532115.5:n.191T>A (BSCL2)
NM_001122955.3:c.812T>A (BSCL2)	NP_001116427.1:p.Ile271Asn
NM_001130702.2:c.620T>A (BSCL2)	NP_001124174.2:p.Ile207Asn
NM_032667.6:c.620T>A (BSCL2)	NP_116056.3:p.Ile207Asn
NR_037946.1:n.3332T>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1414T>A (BSCL2)
NR_037949.1:n.1414T>A (BSCL2)
NM_001122955.4:c.812T>A (BSCL2) MANE Select	NP_001116427.1:p.Ile271Asn
NM_001386027.1:c.812T>A (BSCL2)	NP_001372956.1:p.Ile271Asn
NM_001386028.1:c.812T>A (BSCL2)	NP_001372957.1:p.Ile271Asn