Canonical Allele Identifier: CA6053454
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 567295
dbSNP Id: rs769219167

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62692466G>A , CM000673.2:g.62692466G>A GRCh38
NC_000011.9:g.62459938G>A , CM000673.1:g.62459938G>A GRCh37
NC_000011.8:g.62216514G>A NCBI36
NG_008461.1:g.22109C>T
NG_033077.1:g.2434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000412351.2:n.965C>T (BSCL2)
ENST00000449636.6:c.281C>T (BSCL2) ENSP00000405265.2:p.Pro94Leu
ENST00000524862.6:c.773C>T (BSCL2) ENSP00000433888.2:p.Pro258Leu
ENST00000682003.1:n.816C>T (BSCL2)
ENST00000682223.1:c.773C>T (BSCL2) ENSP00000508140.1:p.Pro258Leu
ENST00000682262.1:c.631-1045C>T (BSCL2) ENSP00000507103.1:n.631-1045C>T
ENST00000682555.1:c.691C>T (BSCL2) ENSP00000507814.1:p.Arg231Ter
ENST00000682644.1:n.1165C>T (BSCL2)
ENST00000682794.1:n.1083C>T (BSCL2)
ENST00000683025.1:c.*420C>T (BSCL2) ENSP00000507028.1:n.*420C>T
ENST00000683296.1:c.773C>T (BSCL2) ENSP00000507725.1:p.Pro258Leu
ENST00000683368.1:n.964C>T (BSCL2)
ENST00000683494.1:n.1354C>T (BSCL2)
ENST00000683846.1:n.1113C>T (BSCL2)
ENST00000683892.1:n.1275C>T (BSCL2)
ENST00000684067.1:c.773C>T (BSCL2) ENSP00000506799.1:p.Pro258Leu
ENST00000684115.1:n.1354C>T (BSCL2)
ENST00000684258.1:n.1201C>T (BSCL2)
ENST00000684285.1:c.*280C>T (BSCL2) ENSP00000507669.1:n.*280C>T
ENST00000684475.1:c.638C>T (BSCL2) ENSP00000507429.1:p.Pro213Leu
ENST00000684609.1:n.1165C>T (BSCL2)
ENST00000684720.1:n.1165C>T (BSCL2)
ENST00000360796.10:c.773C>T (BSCL2) MANE Select ENSP00000354032.5:p.Pro258Leu
ENST00000679883.1:c.773C>T (BSCL2) ENSP00000505838.1:p.Pro258Leu
ENST00000278893.11:c.581C>T (BSCL2) ENSP00000278893.7:p.Pro194Leu
ENST00000301781.10:c.718C>T (BSCL2) ENSP00000301781.5:p.Arg240Ter
ENST00000360796.9:c.773C>T (BSCL2) ENSP00000354032.5:p.Pro258Leu
ENST00000403098.6:c.95C>T (BSCL2) ENSP00000384258.2:p.Pro32Leu
ENST00000403550.5:c.581C>T (BSCL2) ENSP00000385561.1:p.Pro194Leu
ENST00000403734.2:c.*824C>T (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*824C>T
ENST00000405837.5:c.773C>T (BSCL2) ENSP00000385332.1:p.Pro258Leu
ENST00000407022.7:c.581C>T (BSCL2) ENSP00000384080.3:p.Pro194Leu
ENST00000412351.1:n.371C>T (BSCL2)
ENST00000421906.5:c.581C>T (BSCL2) ENSP00000413209.1:p.Pro194Leu
ENST00000448568.6:c.581C>T (BSCL2) ENSP00000413340.2:p.Pro194Leu
ENST00000468505.5:n.143C>T (BSCL2)
ENST00000526426.1:n.297C>T (BSCL2)
ENST00000532115.5:n.152C>T (BSCL2)
NM_001122955.3:c.773C>T (BSCL2) NP_001116427.1:p.Pro258Leu
NM_001130702.2:c.581C>T (BSCL2) NP_001124174.2:p.Pro194Leu
NM_032667.6:c.581C>T (BSCL2) NP_116056.3:p.Pro194Leu
NR_037946.1:n.3293C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1375C>T (BSCL2)
NR_037949.1:n.1375C>T (BSCL2)
NM_001122955.4:c.773C>T (BSCL2) MANE Select NP_001116427.1:p.Pro258Leu
NM_001386027.1:c.773C>T (BSCL2) NP_001372956.1:p.Pro258Leu
NM_001386028.1:c.773C>T (BSCL2) NP_001372957.1:p.Pro258Leu