Canonical Allele Identifier: CA116912
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4544
dbSNP Id: rs137852973

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62702493G>A , CM000673.2:g.62702493G>A GRCh38
NC_000011.9:g.62469965G>A , CM000673.1:g.62469965G>A GRCh37
NC_000011.8:g.62226541G>A NCBI36
NG_008461.1:g.12082C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449636.6:c.-32C>T (BSCL2) ENSP00000405265.2:n.-32C>T
ENST00000524862.6:c.461C>T (BSCL2) ENSP00000433888.2:p.Ser154Leu
ENST00000682003.1:n.639C>T (BSCL2)
ENST00000682223.1:c.461C>T (BSCL2) ENSP00000508140.1:p.Ser154Leu
ENST00000682262.1:c.461C>T (BSCL2) ENSP00000507103.1:p.Ser154Leu
ENST00000682555.1:c.461C>T (BSCL2) ENSP00000507814.1:p.Ser154Leu
ENST00000682644.1:n.853C>T (BSCL2)
ENST00000682794.1:n.796+2808C>T (BSCL2)
ENST00000683025.1:c.461C>T (BSCL2) ENSP00000507028.1:p.Ser154Leu
ENST00000683296.1:c.461C>T (BSCL2) ENSP00000507725.1:p.Ser154Leu
ENST00000683494.1:n.853C>T (BSCL2)
ENST00000683892.1:n.963C>T (BSCL2)
ENST00000684067.1:c.461C>T (BSCL2) ENSP00000506799.1:p.Ser154Leu
ENST00000684115.1:n.853C>T (BSCL2)
ENST00000684285.1:c.404+2808C>T (BSCL2) ENSP00000507669.1:n.404+2808C>T
ENST00000684475.1:c.461C>T (BSCL2) ENSP00000507429.1:p.Ser154Leu
ENST00000684609.1:n.853C>T (BSCL2)
ENST00000684720.1:n.853C>T (BSCL2)
ENST00000360796.10:c.461C>T (BSCL2) MANE Select ENSP00000354032.5:p.Ser154Leu
ENST00000679883.1:c.461C>T (BSCL2) ENSP00000505838.1:p.Ser154Leu
ENST00000278893.11:c.269C>T (BSCL2) ENSP00000278893.7:p.Ser90Leu
ENST00000301781.10:c.461C>T (BSCL2) ENSP00000301781.5:p.Ser154Leu
ENST00000360796.9:c.461C>T (BSCL2) ENSP00000354032.5:p.Ser154Leu
ENST00000403550.5:c.269C>T (BSCL2) ENSP00000385561.1:p.Ser90Leu
ENST00000403734.2:c.*512C>T (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*512C>T
ENST00000405837.5:c.461C>T (BSCL2) ENSP00000385332.1:p.Ser154Leu
ENST00000407022.7:c.269C>T (BSCL2) ENSP00000384080.3:p.Ser90Leu
ENST00000421906.5:c.269C>T (BSCL2) ENSP00000413209.1:p.Ser90Leu
ENST00000448568.6:c.269C>T (BSCL2) ENSP00000413340.2:p.Ser90Leu
ENST00000524862.5:c.461C>T (BSCL2) ENSP00000433888.1:p.Ser154Leu
ENST00000525000.5:c.93C>T (BSCL2)
ENST00000530900.1:n.261C>T (BSCL2)
ENST00000531524.5:c.87+4616C>T (BSCL2) ENSP00000436026.1:n.87+4616C>T
ENST00000533982.1:c.269C>T (BSCL2) ENSP00000434149.1:p.Ser90Leu
ENST00000537604.5:n.512C>T (BSCL2)
NM_001122955.3:c.461C>T (BSCL2) NP_001116427.1:p.Ser154Leu
NM_001130702.2:c.269C>T (BSCL2) NP_001124174.2:p.Ser90Leu
NM_032667.6:c.269C>T (BSCL2) NP_116056.3:p.Ser90Leu
NR_037946.1:n.2981C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1063C>T (BSCL2)
NR_037949.1:n.1063C>T (BSCL2)
NM_001122955.4:c.461C>T (BSCL2) MANE Select NP_001116427.1:p.Ser154Leu
NM_001386027.1:c.461C>T (BSCL2) NP_001372956.1:p.Ser154Leu
NM_001386028.1:c.461C>T (BSCL2) NP_001372957.1:p.Ser154Leu