Canonical Allele Identifier: CA6053490

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• dbSNP Id: rs368353394
• ExAC: 11:62460201 T / C
• gnomAD v2: 11-62460201-T-C
• gnomAD v3: 11-62692729-T-C
• gnomAD v4: 11-62692729-T-C
• MyVariant Identifiers: chr11:g.62460201T>C (hg19) ; chr11:g.62692729T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692729T>C , CM000673.2:g.62692729T>C	GRCh38
NC_000011.9:g.62460201T>C , CM000673.1:g.62460201T>C	GRCh37
NC_000011.8:g.62216777T>C	NCBI36
NG_008461.1:g.21846A>G
NG_033077.1:g.2171A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.891A>G (BSCL2)
ENST00000449636.6:c.207A>G (BSCL2)	ENSP00000405265.2:p.Leu69=
ENST00000524862.6:c.699A>G (BSCL2)	ENSP00000433888.2:p.Leu233=
ENST00000682003.1:n.809-256A>G (BSCL2)
ENST00000682223.1:c.699A>G (BSCL2)	ENSP00000508140.1:p.Leu233=
ENST00000682262.1:c.631-1308A>G (BSCL2)	ENSP00000507103.1:n.631-1308A>G
ENST00000682555.1:c.631-14A>G (BSCL2)	ENSP00000507814.1:n.631-14A>G
ENST00000682644.1:n.1091A>G (BSCL2)
ENST00000682794.1:n.1009A>G (BSCL2)
ENST00000683025.1:c.*346A>G (BSCL2)	ENSP00000507028.1:n.*346A>G
ENST00000683296.1:c.699A>G (BSCL2)	ENSP00000507725.1:p.Leu233=
ENST00000683368.1:n.890A>G (BSCL2)
ENST00000683494.1:n.1091A>G (BSCL2)
ENST00000683846.1:n.1039A>G (BSCL2)
ENST00000683892.1:n.1201A>G (BSCL2)
ENST00000684067.1:c.699A>G (BSCL2)	ENSP00000506799.1:p.Leu233=
ENST00000684115.1:n.1091A>G (BSCL2)
ENST00000684258.1:n.1127A>G (BSCL2)
ENST00000684285.1:c.*206A>G (BSCL2)	ENSP00000507669.1:n.*206A>G
ENST00000684475.1:c.631-256A>G (BSCL2)	ENSP00000507429.1:n.631-256A>G
ENST00000684609.1:n.1091A>G (BSCL2)
ENST00000684720.1:n.1091A>G (BSCL2)
ENST00000360796.10:c.699A>G (BSCL2) MANE Select	ENSP00000354032.5:p.Leu233=
ENST00000679883.1:c.699A>G (BSCL2)	ENSP00000505838.1:p.Leu233=
ENST00000278893.11:c.507A>G (BSCL2)	ENSP00000278893.7:p.Leu169=
ENST00000301781.10:c.644A>G (BSCL2)	ENSP00000301781.5:p.Tyr215Cys
ENST00000360796.9:c.699A>G (BSCL2)	ENSP00000354032.5:p.Leu233=
ENST00000403098.6:c.21A>G (BSCL2)	ENSP00000384258.2:p.Leu7=
ENST00000403550.5:c.507A>G (BSCL2)	ENSP00000385561.1:p.Leu169=
ENST00000403734.2:c.*750A>G (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*750A>G
ENST00000405837.5:c.699A>G (BSCL2)	ENSP00000385332.1:p.Leu233=
ENST00000407022.7:c.507A>G (BSCL2)	ENSP00000384080.3:p.Leu169=
ENST00000412351.1:n.297A>G (BSCL2)
ENST00000421906.5:c.507A>G (BSCL2)	ENSP00000413209.1:p.Leu169=
ENST00000448568.6:c.507A>G (BSCL2)	ENSP00000413340.2:p.Leu169=
ENST00000468505.5:n.69A>G (BSCL2)
ENST00000526426.1:n.214A>G (BSCL2)
ENST00000531524.5:c.300A>G (BSCL2)	ENSP00000436026.1:p.Leu100=
ENST00000532115.5:n.145-256A>G (BSCL2)
NM_001122955.3:c.699A>G (BSCL2)	NP_001116427.1:p.Leu233=
NM_001130702.2:c.507A>G (BSCL2)	NP_001124174.2:p.Leu169=
NM_032667.6:c.507A>G (BSCL2)	NP_116056.3:p.Leu169=
NR_037946.1:n.3219A>G (HNRNPUL2-BSCL2)
NR_037948.1:n.1301A>G (BSCL2)
NR_037949.1:n.1301A>G (BSCL2)
NM_001122955.4:c.699A>G (BSCL2) MANE Select	NP_001116427.1:p.Leu233=
NM_001386027.1:c.699A>G (BSCL2)	NP_001372956.1:p.Leu233=
NM_001386028.1:c.699A>G (BSCL2)	NP_001372957.1:p.Leu233=