Canonical Allele Identifier: CA380962071
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62692416C>A , CM000673.2:g.62692416C>A GRCh38
NC_000011.9:g.62459888C>A , CM000673.1:g.62459888C>A GRCh37
NC_000011.8:g.62216464C>A NCBI36
NG_008461.1:g.22159G>T
NG_033077.1:g.2484G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000412351.2:n.1015G>T (BSCL2)
ENST00000449636.6:c.331G>T (BSCL2) ENSP00000405265.2:p.Gly111Ter
ENST00000524862.6:c.823G>T (BSCL2) ENSP00000433888.2:p.Gly275Ter
ENST00000682003.1:n.866G>T (BSCL2)
ENST00000682223.1:c.823G>T (BSCL2) ENSP00000508140.1:p.Gly275Ter
ENST00000682262.1:c.631-995G>T (BSCL2) ENSP00000507103.1:n.631-995G>T
ENST00000682555.1:c.741G>T (BSCL2) ENSP00000507814.1:p.Met247Ile
ENST00000682644.1:n.1215G>T (BSCL2)
ENST00000682794.1:n.1133G>T (BSCL2)
ENST00000683025.1:c.*470G>T (BSCL2) ENSP00000507028.1:n.*470G>T
ENST00000683296.1:c.823G>T (BSCL2) ENSP00000507725.1:p.Gly275Ter
ENST00000683368.1:n.1014G>T (BSCL2)
ENST00000683494.1:n.1404G>T (BSCL2)
ENST00000683846.1:n.1163G>T (BSCL2)
ENST00000683892.1:n.1325G>T (BSCL2)
ENST00000684067.1:c.823G>T (BSCL2) ENSP00000506799.1:p.Gly275Ter
ENST00000684115.1:n.1404G>T (BSCL2)
ENST00000684258.1:n.1251G>T (BSCL2)
ENST00000684285.1:c.*330G>T (BSCL2) ENSP00000507669.1:n.*330G>T
ENST00000684475.1:c.688G>T (BSCL2) ENSP00000507429.1:p.Gly230Ter
ENST00000684609.1:n.1215G>T (BSCL2)
ENST00000684720.1:n.1215G>T (BSCL2)
ENST00000360796.10:c.823G>T (BSCL2) MANE Select ENSP00000354032.5:p.Gly275Ter
ENST00000679883.1:c.823G>T (BSCL2) ENSP00000505838.1:p.Gly275Ter
ENST00000278893.11:c.631G>T (BSCL2) ENSP00000278893.7:p.Gly211Ter
ENST00000301781.10:c.768G>T (BSCL2) ENSP00000301781.5:p.Met256Ile
ENST00000360796.9:c.823G>T (BSCL2) ENSP00000354032.5:p.Gly275Ter
ENST00000403098.6:c.145G>T (BSCL2) ENSP00000384258.2:p.Gly49Ter
ENST00000403550.5:c.631G>T (BSCL2) ENSP00000385561.1:p.Gly211Ter
ENST00000403734.2:c.*874G>T (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*874G>T
ENST00000405837.5:c.823G>T (BSCL2) ENSP00000385332.1:p.Gly275Ter
ENST00000407022.7:c.631G>T (BSCL2) ENSP00000384080.3:p.Gly211Ter
ENST00000412351.1:n.421G>T (BSCL2)
ENST00000421906.5:c.631G>T (BSCL2) ENSP00000413209.1:p.Gly211Ter
ENST00000448568.6:c.631G>T (BSCL2) ENSP00000413340.2:p.Gly211Ter
ENST00000468505.5:n.193G>T (BSCL2)
ENST00000526426.1:n.347G>T (BSCL2)
ENST00000532115.5:n.202G>T (BSCL2)
NM_001122955.3:c.823G>T (BSCL2) NP_001116427.1:p.Gly275Ter
NM_001130702.2:c.631G>T (BSCL2) NP_001124174.2:p.Gly211Ter
NM_032667.6:c.631G>T (BSCL2) NP_116056.3:p.Gly211Ter
NR_037946.1:n.3343G>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1425G>T (BSCL2)
NR_037949.1:n.1425G>T (BSCL2)
NM_001122955.4:c.823G>T (BSCL2) MANE Select NP_001116427.1:p.Gly275Ter
NM_001386027.1:c.823G>T (BSCL2) NP_001372956.1:p.Gly275Ter
NM_001386028.1:c.823G>T (BSCL2) NP_001372957.1:p.Gly275Ter