Canonical Allele Identifier: CA6053243
Community Standard Title: NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter)
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62690396G>A , CM000673.2:g.62690396G>A GRCh38
NC_000011.9:g.62457868G>A , CM000673.1:g.62457868G>A GRCh37
NC_000011.8:g.62214444G>A NCBI36
NG_008461.1:g.24179C>T
NG_033077.1:g.4504C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001122955.4:c.1360C>T (BSCL2) MANE Select NP_001116427.1:p.Arg454Ter
ENST00000360796.10:c.1360C>T (BSCL2) MANE Select ENSP00000354032.5:p.Arg454Ter
NM_001122955.3:c.1360C>T (BSCL2) NP_001116427.1:p.Arg454Ter
NM_001130702.2:c.*162C>T (BSCL2) NP_001124174.2:n.*162C>T
NM_001386027.1:c.1366C>T (BSCL2) NP_001372956.1:p.Arg456Ter
NM_001386028.1:c.1360C>T (BSCL2) NP_001372957.1:p.Arg454Ter
NM_032667.6:c.1168C>T (BSCL2) NP_116056.3:p.Arg390Ter
NR_037946.1:n.3880C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1962C>T (BSCL2)
NR_037949.1:n.1968C>T (BSCL2)
ENST00000278893.11:c.*162C>T (BSCL2) ENSP00000278893.7:n.*162C>T
ENST00000301781.10:c.*471C>T (BSCL2) ENSP00000301781.5:n.*471C>T
ENST00000360796.9:c.1360C>T (BSCL2) ENSP00000354032.5:p.Arg454Ter
ENST00000403098.6:c.211C>T (BSCL2) ENSP00000384258.2:p.Arg71Ter
ENST00000403550.5:c.1168C>T (BSCL2) ENSP00000385561.1:p.Arg390Ter
ENST00000403734.2:c.*1411C>T (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*1411C>T
ENST00000405837.5:c.1366C>T (BSCL2) ENSP00000385332.1:p.Arg456Ter
ENST00000407022.7:c.1168C>T (BSCL2) ENSP00000384080.3:p.Arg390Ter
ENST00000421906.5:c.1168C>T (BSCL2) ENSP00000413209.1:p.Arg390Ter
ENST00000449636.5:c.424C>T (BSCL2) ENSP00000405265.1:p.Arg142Ter
ENST00000449636.6:c.868C>T (BSCL2) ENSP00000405265.2:p.Arg290Ter
ENST00000463679.5:n.763C>T (BSCL2)
ENST00000463679.6:n.1444C>T (BSCL2)
ENST00000470529.5:n.392C>T (BSCL2)
ENST00000524862.6:c.1360C>T (BSCL2) ENSP00000433888.2:p.Arg454Ter
ENST00000679883.1:c.1360C>T (BSCL2) ENSP00000505838.1:p.Arg454Ter
ENST00000682003.1:n.1748C>T (BSCL2)
ENST00000682223.1:c.*93C>T (BSCL2) ENSP00000508140.1:n.*93C>T
ENST00000682262.1:c.*422C>T (BSCL2) ENSP00000507103.1:n.*422C>T
ENST00000682555.1:c.*471C>T (BSCL2) ENSP00000507814.1:n.*471C>T
ENST00000682794.1:n.1877C>T (BSCL2)
ENST00000683025.1:c.*1145C>T (BSCL2) ENSP00000507028.1:n.*1145C>T
ENST00000683193.1:n.1170C>T (BSCL2)
ENST00000683296.1:c.1369C>T (BSCL2) ENSP00000507725.1:p.Arg457Ter
ENST00000683368.1:n.1758C>T (BSCL2)
ENST00000683494.1:n.3240C>T (BSCL2)
ENST00000683846.1:n.1700C>T (BSCL2)
ENST00000683892.1:n.2000C>T (BSCL2)
ENST00000684067.1:c.1318C>T (BSCL2) ENSP00000506799.1:p.Arg440Ter
ENST00000684115.1:n.1941C>T (BSCL2)
ENST00000684258.1:n.2133C>T (BSCL2)
ENST00000684285.1:c.*867C>T (BSCL2) ENSP00000507669.1:n.*867C>T
ENST00000684475.1:c.1225C>T (BSCL2) ENSP00000507429.1:p.Arg409Ter
ENST00000684609.1:n.2281C>T (BSCL2)