Canonical Allele Identifier: CA380955978
Community Standard Title: NM_001122955.4(BSCL2):c.1159C>T (p.Gln387Ter)
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62690687G>A , CM000673.2:g.62690687G>A GRCh38
NC_000011.9:g.62458159G>A , CM000673.1:g.62458159G>A GRCh37
NC_000011.8:g.62214735G>A NCBI36
NG_008461.1:g.23888C>T
NG_033077.1:g.4213C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001122955.4:c.1159C>T (BSCL2) MANE Select NP_001116427.1:p.Gln387Ter
ENST00000360796.10:c.1159C>T (BSCL2) MANE Select ENSP00000354032.5:p.Gln387Ter
NM_001122955.3:c.1159C>T (BSCL2) NP_001116427.1:p.Gln387Ter
NM_001130702.2:c.825C>T (BSCL2) NP_001124174.2:p.Val275=
NM_001386027.1:c.1165C>T (BSCL2) NP_001372956.1:p.Gln389Ter
NM_001386028.1:c.1159C>T (BSCL2) NP_001372957.1:p.Gln387Ter
NM_032667.6:c.967C>T (BSCL2) NP_116056.3:p.Gln323Ter
NR_037946.1:n.3679C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1761C>T (BSCL2)
NR_037949.1:n.1767C>T (BSCL2)
ENST00000278893.11:c.825C>T (BSCL2) ENSP00000278893.7:p.Val275=
ENST00000301781.10:c.*270C>T (BSCL2) ENSP00000301781.5:n.*270C>T
ENST00000360796.9:c.1159C>T (BSCL2) ENSP00000354032.5:p.Gln387Ter
ENST00000403098.6:c.186-266C>T (BSCL2) ENSP00000384258.2:n.186-266C>T
ENST00000403550.5:c.967C>T (BSCL2) ENSP00000385561.1:p.Gln323Ter
ENST00000403734.2:c.*1210C>T (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*1210C>T
ENST00000405837.5:c.1165C>T (BSCL2) ENSP00000385332.1:p.Gln389Ter
ENST00000407022.7:c.967C>T (BSCL2) ENSP00000384080.3:p.Gln323Ter
ENST00000412351.2:n.1489C>T (BSCL2)
ENST00000421906.5:c.967C>T (BSCL2) ENSP00000413209.1:p.Gln323Ter
ENST00000449636.5:c.223C>T (BSCL2) ENSP00000405265.1:p.Gln75Ter
ENST00000449636.6:c.667C>T (BSCL2) ENSP00000405265.2:p.Gln223Ter
ENST00000463679.5:n.562C>T (BSCL2)
ENST00000463679.6:n.1243C>T (BSCL2)
ENST00000470529.5:n.191C>T (BSCL2)
ENST00000524862.6:c.1159C>T (BSCL2) ENSP00000433888.2:p.Gln387Ter
ENST00000679883.1:c.1159C>T (BSCL2) ENSP00000505838.1:p.Gln387Ter
ENST00000682003.1:n.1547C>T (BSCL2)
ENST00000682223.1:c.1159C>T (BSCL2) ENSP00000508140.1:p.Gln387Ter
ENST00000682262.1:c.*221C>T (BSCL2) ENSP00000507103.1:n.*221C>T
ENST00000682555.1:c.*270C>T (BSCL2) ENSP00000507814.1:n.*270C>T
ENST00000682644.1:n.1896C>T (BSCL2)
ENST00000682794.1:n.1676C>T (BSCL2)
ENST00000683025.1:c.*944C>T (BSCL2) ENSP00000507028.1:n.*944C>T
ENST00000683193.1:n.879C>T (BSCL2)
ENST00000683296.1:c.1168C>T (BSCL2) ENSP00000507725.1:p.Gln390Ter
ENST00000683368.1:n.1557C>T (BSCL2)
ENST00000683494.1:n.3039C>T (BSCL2)
ENST00000683846.1:n.1499C>T (BSCL2)
ENST00000683892.1:n.1799C>T (BSCL2)
ENST00000684067.1:c.1117C>T (BSCL2) ENSP00000506799.1:p.Gln373Ter
ENST00000684115.1:n.1740C>T (BSCL2)
ENST00000684258.1:n.1932C>T (BSCL2)
ENST00000684285.1:c.*666C>T (BSCL2) ENSP00000507669.1:n.*666C>T
ENST00000684475.1:c.1024C>T (BSCL2) ENSP00000507429.1:p.Gln342Ter
ENST00000684609.1:n.1990C>T (BSCL2)
ENST00000684720.1:n.2850C>T (BSCL2)