Canonical Allele Identifier: CA6053481

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 1678788
• ClinVar RCV Id: RCV002226102 ; RCV003093890
• dbSNP Id: rs774120735
• ExAC: 11:62460135 C / T
• gnomAD v2: 11-62460135-C-T
• gnomAD v3: 11-62692663-C-T
• gnomAD v4: 11-62692663-C-T
• MyVariant Identifiers: chr11:g.62460135C>T (hg19) ; chr11:g.62692663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692663C>T , CM000673.2:g.62692663C>T	GRCh38
NC_000011.9:g.62460135C>T , CM000673.1:g.62460135C>T	GRCh37
NC_000011.8:g.62216711C>T	NCBI36
NG_008461.1:g.21912G>A
NG_033077.1:g.2237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.957G>A (BSCL2)
ENST00000449636.6:c.273G>A (BSCL2)	ENSP00000405265.2:p.Ser91=
ENST00000524862.6:c.765G>A (BSCL2)	ENSP00000433888.2:p.Ser255=
ENST00000682003.1:n.809-190G>A (BSCL2)
ENST00000682223.1:c.765G>A (BSCL2)	ENSP00000508140.1:p.Ser255=
ENST00000682262.1:c.631-1242G>A (BSCL2)	ENSP00000507103.1:n.631-1242G>A
ENST00000682555.1:c.683G>A (BSCL2)	ENSP00000507814.1:p.Arg228His
ENST00000682644.1:n.1157G>A (BSCL2)
ENST00000682794.1:n.1075G>A (BSCL2)
ENST00000683025.1:c.*412G>A (BSCL2)	ENSP00000507028.1:n.*412G>A
ENST00000683296.1:c.765G>A (BSCL2)	ENSP00000507725.1:p.Ser255=
ENST00000683368.1:n.956G>A (BSCL2)
ENST00000683494.1:n.1157G>A (BSCL2)
ENST00000683846.1:n.1105G>A (BSCL2)
ENST00000683892.1:n.1267G>A (BSCL2)
ENST00000684067.1:c.765G>A (BSCL2)	ENSP00000506799.1:p.Ser255=
ENST00000684115.1:n.1157G>A (BSCL2)
ENST00000684258.1:n.1193G>A (BSCL2)
ENST00000684285.1:c.*272G>A (BSCL2)	ENSP00000507669.1:n.*272G>A
ENST00000684475.1:c.631-190G>A (BSCL2)	ENSP00000507429.1:n.631-190G>A
ENST00000684609.1:n.1157G>A (BSCL2)
ENST00000684720.1:n.1157G>A (BSCL2)
ENST00000360796.10:c.765G>A (BSCL2) MANE Select	ENSP00000354032.5:p.Ser255=
ENST00000679883.1:c.765G>A (BSCL2)	ENSP00000505838.1:p.Ser255=
ENST00000278893.11:c.573G>A (BSCL2)	ENSP00000278893.7:p.Ser191=
ENST00000301781.10:c.710G>A (BSCL2)	ENSP00000301781.5:p.Arg237His
ENST00000360796.9:c.765G>A (BSCL2)	ENSP00000354032.5:p.Ser255=
ENST00000403098.6:c.87G>A (BSCL2)	ENSP00000384258.2:p.Ser29=
ENST00000403550.5:c.573G>A (BSCL2)	ENSP00000385561.1:p.Ser191=
ENST00000403734.2:c.*816G>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*816G>A
ENST00000405837.5:c.765G>A (BSCL2)	ENSP00000385332.1:p.Ser255=
ENST00000407022.7:c.573G>A (BSCL2)	ENSP00000384080.3:p.Ser191=
ENST00000412351.1:n.363G>A (BSCL2)
ENST00000421906.5:c.573G>A (BSCL2)	ENSP00000413209.1:p.Ser191=
ENST00000448568.6:c.573G>A (BSCL2)	ENSP00000413340.2:p.Ser191=
ENST00000468505.5:n.135G>A (BSCL2)
ENST00000526426.1:n.280G>A (BSCL2)
ENST00000532115.5:n.145-190G>A (BSCL2)
NM_001122955.3:c.765G>A (BSCL2)	NP_001116427.1:p.Ser255=
NM_001130702.2:c.573G>A (BSCL2)	NP_001124174.2:p.Ser191=
NM_032667.6:c.573G>A (BSCL2)	NP_116056.3:p.Ser191=
NR_037946.1:n.3285G>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1367G>A (BSCL2)
NR_037949.1:n.1367G>A (BSCL2)
NM_001122955.4:c.765G>A (BSCL2) MANE Select	NP_001116427.1:p.Ser255=
NM_001386027.1:c.765G>A (BSCL2)	NP_001372956.1:p.Ser255=
NM_001386028.1:c.765G>A (BSCL2)	NP_001372957.1:p.Ser255=