Canonical Allele Identifier: CA380963063

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 581808
• ClinVar RCV Id: RCV000705740
• dbSNP Id: rs1565144788
• gnomAD v4: 11-62692749-C-A
• MyVariant Identifiers: chr11:g.62460221C>A (hg19) ; chr11:g.62692749C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692749C>A , CM000673.2:g.62692749C>A	GRCh38
NC_000011.9:g.62460221C>A , CM000673.1:g.62460221C>A	GRCh37
NC_000011.8:g.62216797C>A	NCBI36
NG_008461.1:g.21826G>T
NG_033077.1:g.2151G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.871G>T (BSCL2)
ENST00000449636.6:c.187G>T (BSCL2)	ENSP00000405265.2:p.Val63Phe
ENST00000524862.6:c.679G>T (BSCL2)	ENSP00000433888.2:p.Val227Phe
ENST00000682003.1:n.809-276G>T (BSCL2)
ENST00000682223.1:c.679G>T (BSCL2)	ENSP00000508140.1:p.Val227Phe
ENST00000682262.1:c.631-1328G>T (BSCL2)	ENSP00000507103.1:n.631-1328G>T
ENST00000682555.1:c.631-34G>T (BSCL2)	ENSP00000507814.1:n.631-34G>T
ENST00000682644.1:n.1071G>T (BSCL2)
ENST00000682794.1:n.989G>T (BSCL2)
ENST00000683025.1:c.*326G>T (BSCL2)	ENSP00000507028.1:n.*326G>T
ENST00000683296.1:c.679G>T (BSCL2)	ENSP00000507725.1:p.Val227Phe
ENST00000683368.1:n.870G>T (BSCL2)
ENST00000683494.1:n.1071G>T (BSCL2)
ENST00000683846.1:n.1019G>T (BSCL2)
ENST00000683892.1:n.1181G>T (BSCL2)
ENST00000684067.1:c.679G>T (BSCL2)	ENSP00000506799.1:p.Val227Phe
ENST00000684115.1:n.1071G>T (BSCL2)
ENST00000684258.1:n.1107G>T (BSCL2)
ENST00000684285.1:c.*186G>T (BSCL2)	ENSP00000507669.1:n.*186G>T
ENST00000684475.1:c.631-276G>T (BSCL2)	ENSP00000507429.1:n.631-276G>T
ENST00000684609.1:n.1071G>T (BSCL2)
ENST00000684720.1:n.1071G>T (BSCL2)
ENST00000360796.10:c.679G>T (BSCL2) MANE Select	ENSP00000354032.5:p.Val227Phe
ENST00000679883.1:c.679G>T (BSCL2)	ENSP00000505838.1:p.Val227Phe
ENST00000278893.11:c.487G>T (BSCL2)	ENSP00000278893.7:p.Val163Phe
ENST00000301781.10:c.635-11G>T (BSCL2)	ENSP00000301781.5:n.635-11G>T
ENST00000360796.9:c.679G>T (BSCL2)	ENSP00000354032.5:p.Val227Phe
ENST00000403098.6:c.1G>T (BSCL2)	ENSP00000384258.2:p.Val1Phe
ENST00000403550.5:c.487G>T (BSCL2)	ENSP00000385561.1:p.Val163Phe
ENST00000403734.2:c.*730G>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*730G>T
ENST00000405837.5:c.679G>T (BSCL2)	ENSP00000385332.1:p.Val227Phe
ENST00000407022.7:c.487G>T (BSCL2)	ENSP00000384080.3:p.Val163Phe
ENST00000412351.1:n.277G>T (BSCL2)
ENST00000421906.5:c.487G>T (BSCL2)	ENSP00000413209.1:p.Val163Phe
ENST00000448568.6:c.487G>T (BSCL2)	ENSP00000413340.2:p.Val163Phe
ENST00000468505.5:n.49G>T (BSCL2)
ENST00000524862.5:c.679G>T (BSCL2)
ENST00000526426.1:n.194G>T (BSCL2)
ENST00000531524.5:c.280G>T (BSCL2)	ENSP00000436026.1:p.Val94Phe
ENST00000532115.5:n.145-276G>T (BSCL2)
NM_001122955.3:c.679G>T (BSCL2)	NP_001116427.1:p.Val227Phe
NM_001130702.2:c.487G>T (BSCL2)	NP_001124174.2:p.Val163Phe
NM_032667.6:c.487G>T (BSCL2)	NP_116056.3:p.Val163Phe
NR_037946.1:n.3199G>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1281G>T (BSCL2)
NR_037949.1:n.1281G>T (BSCL2)
NM_001122955.4:c.679G>T (BSCL2) MANE Select	NP_001116427.1:p.Val227Phe
NM_001386027.1:c.679G>T (BSCL2)	NP_001372956.1:p.Val227Phe
NM_001386028.1:c.679G>T (BSCL2)	NP_001372957.1:p.Val227Phe