Canonical Allele Identifier: CA6053532

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62694666G>C , CM000673.2:g.62694666G>C	GRCh38
NC_000011.9:g.62462138G>C , CM000673.1:g.62462138G>C	GRCh37
NC_000011.8:g.62218714G>C	NCBI36
NG_008461.1:g.19909C>G
NG_033077.1:g.234C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001122955.4:c.532C>G (BSCL2) MANE Select	NP_001116427.1:p.Leu178Val
ENST00000360796.10:c.532C>G (BSCL2) MANE Select	ENSP00000354032.5:p.Leu178Val
NM_001122955.3:c.532C>G (BSCL2)	NP_001116427.1:p.Leu178Val
NM_001130702.2:c.340C>G (BSCL2)	NP_001124174.2:p.Leu114Val
NM_001386027.1:c.532C>G (BSCL2)	NP_001372956.1:p.Leu178Val
NM_001386028.1:c.532C>G (BSCL2)	NP_001372957.1:p.Leu178Val
NM_032667.6:c.340C>G (BSCL2)	NP_116056.3:p.Leu114Val
NR_037946.1:n.3052C>G (HNRNPUL2-BSCL2)
NR_037948.1:n.1134C>G (BSCL2)
NR_037949.1:n.1134C>G (BSCL2)
ENST00000278893.11:c.340C>G (BSCL2)	ENSP00000278893.7:p.Leu114Val
ENST00000301781.10:c.532C>G (BSCL2)	ENSP00000301781.5:p.Leu178Val
ENST00000360796.9:c.532C>G (BSCL2)	ENSP00000354032.5:p.Leu178Val
ENST00000403550.5:c.340C>G (BSCL2)	ENSP00000385561.1:p.Leu114Val
ENST00000403734.2:c.*583C>G (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*583C>G
ENST00000405837.5:c.532C>G (BSCL2)	ENSP00000385332.1:p.Leu178Val
ENST00000407022.7:c.340C>G (BSCL2)	ENSP00000384080.3:p.Leu114Val
ENST00000412351.1:n.130C>G (BSCL2)
ENST00000412351.2:n.724C>G (BSCL2)
ENST00000421906.5:c.340C>G (BSCL2)	ENSP00000413209.1:p.Leu114Val
ENST00000448568.6:c.340C>G (BSCL2)	ENSP00000413340.2:p.Leu114Val
ENST00000449636.6:c.40C>G (BSCL2)	ENSP00000405265.2:p.Leu14Val
ENST00000524862.5:c.532C>G (BSCL2)	ENSP00000433888.1:p.Leu178Val
ENST00000524862.6:c.532C>G (BSCL2)	ENSP00000433888.2:p.Leu178Val
ENST00000526426.1:n.47C>G (BSCL2)
ENST00000530900.1:n.332C>G (BSCL2)
ENST00000531524.5:c.133C>G (BSCL2)	ENSP00000436026.1:p.Leu45Val
ENST00000532115.5:n.46C>G (BSCL2)
ENST00000537604.5:n.583C>G (BSCL2)
ENST00000679883.1:c.532C>G (BSCL2)	ENSP00000505838.1:p.Leu178Val
ENST00000682003.1:n.710C>G (BSCL2)
ENST00000682223.1:c.532C>G (BSCL2)	ENSP00000508140.1:p.Leu178Val
ENST00000682262.1:c.532C>G (BSCL2)	ENSP00000507103.1:p.Leu178Val
ENST00000682555.1:c.532C>G (BSCL2)	ENSP00000507814.1:p.Leu178Val
ENST00000682644.1:n.924C>G (BSCL2)
ENST00000682794.1:n.842C>G (BSCL2)
ENST00000683025.1:c.*179C>G (BSCL2)	ENSP00000507028.1:n.*179C>G
ENST00000683296.1:c.532C>G (BSCL2)	ENSP00000507725.1:p.Leu178Val
ENST00000683368.1:n.723C>G (BSCL2)
ENST00000683494.1:n.924C>G (BSCL2)
ENST00000683846.1:n.872C>G (BSCL2)
ENST00000683892.1:n.1034C>G (BSCL2)
ENST00000684067.1:c.532C>G (BSCL2)	ENSP00000506799.1:p.Leu178Val
ENST00000684115.1:n.924C>G (BSCL2)
ENST00000684258.1:n.960C>G (BSCL2)
ENST00000684285.1:c.*39C>G (BSCL2)	ENSP00000507669.1:n.*39C>G
ENST00000684475.1:c.532C>G (BSCL2)	ENSP00000507429.1:p.Leu178Val
ENST00000684609.1:n.924C>G (BSCL2)
ENST00000684720.1:n.924C>G (BSCL2)