Canonical Allele Identifier: CA380956804
Community Standard Title: NM_001122955.4(BSCL2):c.1126G>T (p.Glu376Ter)
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62690814C>A , CM000673.2:g.62690814C>A GRCh38
NC_000011.9:g.62458286C>A , CM000673.1:g.62458286C>A GRCh37
NC_000011.8:g.62214862C>A NCBI36
NG_008461.1:g.23761G>T
NG_033077.1:g.4086G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001122955.4:c.1126G>T (BSCL2) MANE Select NP_001116427.1:p.Glu376Ter
ENST00000360796.10:c.1126G>T (BSCL2) MANE Select ENSP00000354032.5:p.Glu376Ter
NM_001122955.3:c.1126G>T (BSCL2) NP_001116427.1:p.Glu376Ter
NM_001130702.2:c.792G>T (BSCL2) NP_001124174.2:p.Val264=
NM_001386027.1:c.1132G>T (BSCL2) NP_001372956.1:p.Glu378Ter
NM_001386028.1:c.1126G>T (BSCL2) NP_001372957.1:p.Glu376Ter
NM_032667.6:c.934G>T (BSCL2) NP_116056.3:p.Glu312Ter
NR_037946.1:n.3646G>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1728G>T (BSCL2)
NR_037949.1:n.1734G>T (BSCL2)
ENST00000278893.11:c.792G>T (BSCL2) ENSP00000278893.7:p.Val264=
ENST00000301781.10:c.*237G>T (BSCL2) ENSP00000301781.5:n.*237G>T
ENST00000360796.9:c.1126G>T (BSCL2) ENSP00000354032.5:p.Glu376Ter
ENST00000403098.6:c.186-393G>T (BSCL2) ENSP00000384258.2:n.186-393G>T
ENST00000403550.5:c.934G>T (BSCL2) ENSP00000385561.1:p.Glu312Ter
ENST00000403734.2:c.*1177G>T (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*1177G>T
ENST00000405837.5:c.1132G>T (BSCL2) ENSP00000385332.1:p.Glu378Ter
ENST00000407022.7:c.934G>T (BSCL2) ENSP00000384080.3:p.Glu312Ter
ENST00000412351.2:n.1456G>T (BSCL2)
ENST00000421906.5:c.934G>T (BSCL2) ENSP00000413209.1:p.Glu312Ter
ENST00000449636.5:c.178+3G>T (BSCL2) ENSP00000405265.1:n.178+3G>T
ENST00000449636.6:c.634G>T (BSCL2) ENSP00000405265.2:p.Glu212Ter
ENST00000463679.5:n.529G>T (BSCL2)
ENST00000463679.6:n.1116G>T (BSCL2)
ENST00000470529.5:n.158G>T (BSCL2)
ENST00000524862.6:c.1126G>T (BSCL2) ENSP00000433888.2:p.Glu376Ter
ENST00000679883.1:c.1126G>T (BSCL2) ENSP00000505838.1:p.Glu376Ter
ENST00000682003.1:n.1514G>T (BSCL2)
ENST00000682223.1:c.1126G>T (BSCL2) ENSP00000508140.1:p.Glu376Ter
ENST00000682262.1:c.*188G>T (BSCL2) ENSP00000507103.1:n.*188G>T
ENST00000682555.1:c.*237G>T (BSCL2) ENSP00000507814.1:n.*237G>T
ENST00000682644.1:n.1863G>T (BSCL2)
ENST00000682794.1:n.1643G>T (BSCL2)
ENST00000683025.1:c.*911G>T (BSCL2) ENSP00000507028.1:n.*911G>T
ENST00000683193.1:n.846G>T (BSCL2)
ENST00000683296.1:c.1123+3G>T (BSCL2) ENSP00000507725.1:n.1123+3G>T
ENST00000683368.1:n.1524G>T (BSCL2)
ENST00000683494.1:n.3006G>T (BSCL2)
ENST00000683846.1:n.1466G>T (BSCL2)
ENST00000683892.1:n.1766G>T (BSCL2)
ENST00000684067.1:c.1073-83G>T (BSCL2) ENSP00000506799.1:n.1073-83G>T
ENST00000684115.1:n.1707G>T (BSCL2)
ENST00000684258.1:n.1899G>T (BSCL2)
ENST00000684285.1:c.*633G>T (BSCL2) ENSP00000507669.1:n.*633G>T
ENST00000684475.1:c.991G>T (BSCL2) ENSP00000507429.1:p.Glu331Ter
ENST00000684609.1:n.1863G>T (BSCL2)
ENST00000684720.1:n.2817G>T (BSCL2)