Canonical Allele Identifier: CA1977889498
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62692741A= , CM000673.2:g.62692741A= GRCh38
NC_000011.9:g.62460213A= , CM000673.1:g.62460213A= GRCh37
NC_000011.8:g.62216789A= NCBI36
NG_008461.1:g.21834T=
NG_033077.1:g.2159T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000412351.2:n.879T= (BSCL2)
ENST00000449636.6:c.195T= (BSCL2) ENSP00000405265.2:p.Ser65=
ENST00000524862.6:c.687T= (BSCL2) ENSP00000433888.2:p.Ser229=
ENST00000682003.1:n.809-268T= (BSCL2)
ENST00000682223.1:c.687T= (BSCL2) ENSP00000508140.1:p.Ser229=
ENST00000682262.1:c.631-1320T= (BSCL2) ENSP00000507103.1:n.631-1320T=
ENST00000682555.1:c.631-26T= (BSCL2) ENSP00000507814.1:n.631-26T=
ENST00000682644.1:n.1079T= (BSCL2)
ENST00000682794.1:n.997T= (BSCL2)
ENST00000683025.1:c.*334T= (BSCL2) ENSP00000507028.1:n.*334T=
ENST00000683296.1:c.687T= (BSCL2) ENSP00000507725.1:p.Ser229=
ENST00000683368.1:n.878T= (BSCL2)
ENST00000683494.1:n.1079T= (BSCL2)
ENST00000683846.1:n.1027T= (BSCL2)
ENST00000683892.1:n.1189T= (BSCL2)
ENST00000684067.1:c.687T= (BSCL2) ENSP00000506799.1:p.Ser229=
ENST00000684115.1:n.1079T= (BSCL2)
ENST00000684258.1:n.1115T= (BSCL2)
ENST00000684285.1:c.*194T= (BSCL2) ENSP00000507669.1:n.*194T=
ENST00000684475.1:c.631-268T= (BSCL2) ENSP00000507429.1:n.631-268T=
ENST00000684609.1:n.1079T= (BSCL2)
ENST00000684720.1:n.1079T= (BSCL2)
ENST00000360796.10:c.687T= (BSCL2) MANE Select ENSP00000354032.5:p.Ser229=
ENST00000679883.1:c.687T= (BSCL2) ENSP00000505838.1:p.Ser229=
ENST00000278893.11:c.495T= (BSCL2) ENSP00000278893.7:p.Ser165=
ENST00000301781.10:c.635-3T= (BSCL2) ENSP00000301781.5:n.635-3T=
ENST00000360796.9:c.687T= (BSCL2) ENSP00000354032.5:p.Ser229=
ENST00000403098.6:c.9T= (BSCL2) ENSP00000384258.2:p.Ser3=
ENST00000403550.5:c.495T= (BSCL2) ENSP00000385561.1:p.Ser165=
ENST00000403734.2:c.*738T= (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*738T=
ENST00000405837.5:c.687T= (BSCL2) ENSP00000385332.1:p.Ser229=
ENST00000407022.7:c.495T= (BSCL2) ENSP00000384080.3:p.Ser165=
ENST00000412351.1:n.285T= (BSCL2)
ENST00000421906.5:c.495T= (BSCL2) ENSP00000413209.1:p.Ser165=
ENST00000448568.6:c.495T= (BSCL2) ENSP00000413340.2:p.Ser165=
ENST00000468505.5:n.57T= (BSCL2)
ENST00000526426.1:n.202T= (BSCL2)
ENST00000531524.5:c.288T= (BSCL2) ENSP00000436026.1:p.Ser96=
ENST00000532115.5:n.145-268T= (BSCL2)
NM_001122955.3:c.687T= (BSCL2) NP_001116427.1:p.Ser229=
NM_001130702.2:c.495T= (BSCL2) NP_001124174.2:p.Ser165=
NM_032667.6:c.495T= (BSCL2) NP_116056.3:p.Ser165=
NR_037946.1:n.3207T= (HNRNPUL2-BSCL2)
NR_037948.1:n.1289T= (BSCL2)
NR_037949.1:n.1289T= (BSCL2)
NM_001122955.4:c.687T= (BSCL2) MANE Select NP_001116427.1:p.Ser229=
NM_001386027.1:c.687T= (BSCL2) NP_001372956.1:p.Ser229=
NM_001386028.1:c.687T= (BSCL2) NP_001372957.1:p.Ser229=