Canonical Allele Identifier: CA380962894

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• MyVariant Identifiers: chr11:g.62460200A>C (hg19) ; chr11:g.62692728A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692728A>C , CM000673.2:g.62692728A>C	GRCh38
NC_000011.9:g.62460200A>C , CM000673.1:g.62460200A>C	GRCh37
NC_000011.8:g.62216776A>C	NCBI36
NG_008461.1:g.21847T>G
NG_033077.1:g.2172T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.892T>G (BSCL2)
ENST00000449636.6:c.208T>G (BSCL2)	ENSP00000405265.2:p.Phe70Val
ENST00000524862.6:c.700T>G (BSCL2)	ENSP00000433888.2:p.Phe234Val
ENST00000682003.1:n.809-255T>G (BSCL2)
ENST00000682223.1:c.700T>G (BSCL2)	ENSP00000508140.1:p.Phe234Val
ENST00000682262.1:c.631-1307T>G (BSCL2)	ENSP00000507103.1:n.631-1307T>G
ENST00000682555.1:c.631-13T>G (BSCL2)	ENSP00000507814.1:n.631-13T>G
ENST00000682644.1:n.1092T>G (BSCL2)
ENST00000682794.1:n.1010T>G (BSCL2)
ENST00000683025.1:c.*347T>G (BSCL2)	ENSP00000507028.1:n.*347T>G
ENST00000683296.1:c.700T>G (BSCL2)	ENSP00000507725.1:p.Phe234Val
ENST00000683368.1:n.891T>G (BSCL2)
ENST00000683494.1:n.1092T>G (BSCL2)
ENST00000683846.1:n.1040T>G (BSCL2)
ENST00000683892.1:n.1202T>G (BSCL2)
ENST00000684067.1:c.700T>G (BSCL2)	ENSP00000506799.1:p.Phe234Val
ENST00000684115.1:n.1092T>G (BSCL2)
ENST00000684258.1:n.1128T>G (BSCL2)
ENST00000684285.1:c.*207T>G (BSCL2)	ENSP00000507669.1:n.*207T>G
ENST00000684475.1:c.631-255T>G (BSCL2)	ENSP00000507429.1:n.631-255T>G
ENST00000684609.1:n.1092T>G (BSCL2)
ENST00000684720.1:n.1092T>G (BSCL2)
ENST00000360796.10:c.700T>G (BSCL2) MANE Select	ENSP00000354032.5:p.Phe234Val
ENST00000679883.1:c.700T>G (BSCL2)	ENSP00000505838.1:p.Phe234Val
ENST00000278893.11:c.508T>G (BSCL2)	ENSP00000278893.7:p.Phe170Val
ENST00000301781.10:c.645T>G (BSCL2)	ENSP00000301781.5:p.Tyr215Ter
ENST00000360796.9:c.700T>G (BSCL2)	ENSP00000354032.5:p.Phe234Val
ENST00000403098.6:c.22T>G (BSCL2)	ENSP00000384258.2:p.Phe8Val
ENST00000403550.5:c.508T>G (BSCL2)	ENSP00000385561.1:p.Phe170Val
ENST00000403734.2:c.*751T>G (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*751T>G
ENST00000405837.5:c.700T>G (BSCL2)	ENSP00000385332.1:p.Phe234Val
ENST00000407022.7:c.508T>G (BSCL2)	ENSP00000384080.3:p.Phe170Val
ENST00000412351.1:n.298T>G (BSCL2)
ENST00000421906.5:c.508T>G (BSCL2)	ENSP00000413209.1:p.Phe170Val
ENST00000448568.6:c.508T>G (BSCL2)	ENSP00000413340.2:p.Phe170Val
ENST00000468505.5:n.70T>G (BSCL2)
ENST00000526426.1:n.215T>G (BSCL2)
ENST00000531524.5:c.301T>G (BSCL2)	ENSP00000436026.1:p.Phe101Val
ENST00000532115.5:n.145-255T>G (BSCL2)
NM_001122955.3:c.700T>G (BSCL2)	NP_001116427.1:p.Phe234Val
NM_001130702.2:c.508T>G (BSCL2)	NP_001124174.2:p.Phe170Val
NM_032667.6:c.508T>G (BSCL2)	NP_116056.3:p.Phe170Val
NR_037946.1:n.3220T>G (HNRNPUL2-BSCL2)
NR_037948.1:n.1302T>G (BSCL2)
NR_037949.1:n.1302T>G (BSCL2)
NM_001122955.4:c.700T>G (BSCL2) MANE Select	NP_001116427.1:p.Phe234Val
NM_001386027.1:c.700T>G (BSCL2)	NP_001372956.1:p.Phe234Val
NM_001386028.1:c.700T>G (BSCL2)	NP_001372957.1:p.Phe234Val