Canonical Allele Identifier: CA380970435

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 1970637
• ClinVar RCV Id: RCV002735429
• dbSNP Id: rs1218475333
• gnomAD v2: 11-62472827-T-C
• gnomAD v4: 11-62705355-T-C
• MyVariant Identifiers: chr11:g.62472827T>C (hg19) ; chr11:g.62705355T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62705355T>C , CM000673.2:g.62705355T>C	GRCh38
NC_000011.9:g.62472827T>C , CM000673.1:g.62472827T>C	GRCh37
NC_000011.8:g.62229403T>C	NCBI36
NG_008461.1:g.9220A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449636.6:c.-89+1754A>G (BSCL2)	ENSP00000405265.2:n.-89+1754A>G
ENST00000524862.6:c.350A>G (BSCL2)	ENSP00000433888.2:p.Tyr117Cys
ENST00000682223.1:c.350A>G (BSCL2)	ENSP00000508140.1:p.Tyr117Cys
ENST00000682262.1:c.350A>G (BSCL2)	ENSP00000507103.1:p.Tyr117Cys
ENST00000682555.1:c.350A>G (BSCL2)	ENSP00000507814.1:p.Tyr117Cys
ENST00000682644.1:n.742A>G (BSCL2)
ENST00000682794.1:n.742A>G (BSCL2)
ENST00000683025.1:c.350A>G (BSCL2)	ENSP00000507028.1:p.Tyr117Cys
ENST00000683296.1:c.350A>G (BSCL2)	ENSP00000507725.1:p.Tyr117Cys
ENST00000683494.1:n.742A>G (BSCL2)
ENST00000683892.1:n.852A>G (BSCL2)
ENST00000684067.1:c.350A>G (BSCL2)	ENSP00000506799.1:p.Tyr117Cys
ENST00000684115.1:n.742A>G (BSCL2)
ENST00000684285.1:c.350A>G (BSCL2)	ENSP00000507669.1:p.Tyr117Cys
ENST00000684475.1:c.350A>G (BSCL2)	ENSP00000507429.1:p.Tyr117Cys
ENST00000684609.1:n.742A>G (BSCL2)
ENST00000684720.1:n.742A>G (BSCL2)
ENST00000360796.10:c.350A>G (BSCL2) MANE Select	ENSP00000354032.5:p.Tyr117Cys
ENST00000679883.1:c.350A>G (BSCL2)	ENSP00000505838.1:p.Tyr117Cys
ENST00000278893.11:c.158A>G (BSCL2)	ENSP00000278893.7:p.Tyr53Cys
ENST00000301781.10:c.350A>G (BSCL2)	ENSP00000301781.5:p.Tyr117Cys
ENST00000360796.9:c.350A>G (BSCL2)	ENSP00000354032.5:p.Tyr117Cys
ENST00000403550.5:c.158A>G (BSCL2)	ENSP00000385561.1:p.Tyr53Cys
ENST00000403734.2:c.*401A>G (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*401A>G
ENST00000405837.5:c.350A>G (BSCL2)	ENSP00000385332.1:p.Tyr117Cys
ENST00000407022.7:c.158A>G (BSCL2)	ENSP00000384080.3:p.Tyr53Cys
ENST00000421906.5:c.158A>G (BSCL2)	ENSP00000413209.1:p.Tyr53Cys
ENST00000448568.6:c.158A>G (BSCL2)	ENSP00000413340.2:p.Tyr53Cys
ENST00000524862.5:c.350A>G (BSCL2)	ENSP00000433888.1:p.Tyr117Cys
ENST00000525000.5:c.36+1754A>G (BSCL2)
ENST00000530900.1:n.204+113A>G (BSCL2)
ENST00000531524.5:c.87+1754A>G (BSCL2)	ENSP00000436026.1:n.87+1754A>G
ENST00000532818.5:c.350A>G (BSCL2)	ENSP00000435831.1:p.Tyr117Cys
ENST00000533982.1:c.158A>G (BSCL2)	ENSP00000434149.1:p.Tyr53Cys
ENST00000537604.5:n.455+113A>G (BSCL2)
NM_001122955.3:c.350A>G (BSCL2)	NP_001116427.1:p.Tyr117Cys
NM_001130702.2:c.158A>G (BSCL2)	NP_001124174.2:p.Tyr53Cys
NM_032667.6:c.158A>G (BSCL2)	NP_116056.3:p.Tyr53Cys
NR_037946.1:n.2870A>G (HNRNPUL2-BSCL2)
NR_037948.1:n.952A>G (BSCL2)
NR_037949.1:n.952A>G (BSCL2)
NM_001122955.4:c.350A>G (BSCL2) MANE Select	NP_001116427.1:p.Tyr117Cys
NM_001386027.1:c.350A>G (BSCL2)	NP_001372956.1:p.Tyr117Cys
NM_001386028.1:c.350A>G (BSCL2)	NP_001372957.1:p.Tyr117Cys