Canonical Allele Identifier: CA6053388
Community Standard Title: NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro)
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62691281T>G , CM000673.2:g.62691281T>G GRCh38
NC_000011.9:g.62458753T>G , CM000673.1:g.62458753T>G GRCh37
NC_000011.8:g.62215329T>G NCBI36
NG_008461.1:g.23294A>C
NG_033077.1:g.3619A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001122955.4:c.1004A>C (BSCL2) MANE Select NP_001116427.1:p.Gln335Pro
ENST00000360796.10:c.1004A>C (BSCL2) MANE Select ENSP00000354032.5:p.Gln335Pro
NM_001122955.3:c.1004A>C (BSCL2) NP_001116427.1:p.Gln335Pro
NM_001130702.2:c.672-140A>C (BSCL2) NP_001124174.2:n.672-140A>C
NM_001386027.1:c.1004A>C (BSCL2) NP_001372956.1:p.Gln335Pro
NM_001386028.1:c.1004A>C (BSCL2) NP_001372957.1:p.Gln335Pro
NM_032667.6:c.812A>C (BSCL2) NP_116056.3:p.Gln271Pro
NR_037946.1:n.3524A>C (HNRNPUL2-BSCL2)
NR_037948.1:n.1606A>C (BSCL2)
NR_037949.1:n.1606A>C (BSCL2)
ENST00000278893.11:c.672-140A>C (BSCL2) ENSP00000278893.7:n.672-140A>C
ENST00000301781.10:c.*115A>C (BSCL2) ENSP00000301781.5:n.*115A>C
ENST00000360796.9:c.1004A>C (BSCL2) ENSP00000354032.5:p.Gln335Pro
ENST00000403098.6:c.186-860A>C (BSCL2) ENSP00000384258.2:n.186-860A>C
ENST00000403550.5:c.812A>C (BSCL2) ENSP00000385561.1:p.Gln271Pro
ENST00000403734.2:c.*1055A>C (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*1055A>C
ENST00000405837.5:c.1004A>C (BSCL2) ENSP00000385332.1:p.Gln335Pro
ENST00000407022.7:c.812A>C (BSCL2) ENSP00000384080.3:p.Gln271Pro
ENST00000412351.2:n.1196A>C (BSCL2)
ENST00000421906.5:c.812A>C (BSCL2) ENSP00000413209.1:p.Gln271Pro
ENST00000449636.5:c.59A>C (BSCL2) ENSP00000405265.1:p.Gln20Pro
ENST00000449636.6:c.512A>C (BSCL2) ENSP00000405265.2:p.Gln171Pro
ENST00000463679.5:n.62A>C (BSCL2)
ENST00000463679.6:n.649A>C (BSCL2)
ENST00000468505.5:n.374A>C (BSCL2)
ENST00000524862.6:c.1004A>C (BSCL2) ENSP00000433888.2:p.Gln335Pro
ENST00000679883.1:c.1004A>C (BSCL2) ENSP00000505838.1:p.Gln335Pro
ENST00000682003.1:n.1047A>C (BSCL2)
ENST00000682223.1:c.1004A>C (BSCL2) ENSP00000508140.1:p.Gln335Pro
ENST00000682262.1:c.771A>C (BSCL2) ENSP00000507103.1:p.Ala257=
ENST00000682555.1:c.*115A>C (BSCL2) ENSP00000507814.1:n.*115A>C
ENST00000682644.1:n.1396A>C (BSCL2)
ENST00000682794.1:n.1314A>C (BSCL2)
ENST00000683025.1:c.*651A>C (BSCL2) ENSP00000507028.1:n.*651A>C
ENST00000683193.1:n.586A>C (BSCL2)
ENST00000683296.1:c.1004A>C (BSCL2) ENSP00000507725.1:p.Gln335Pro
ENST00000683368.1:n.1195A>C (BSCL2)
ENST00000683494.1:n.2539A>C (BSCL2)
ENST00000683846.1:n.1344A>C (BSCL2)
ENST00000683892.1:n.1506A>C (BSCL2)
ENST00000684067.1:c.1004A>C (BSCL2) ENSP00000506799.1:p.Gln335Pro
ENST00000684115.1:n.1585A>C (BSCL2)
ENST00000684258.1:n.1432A>C (BSCL2)
ENST00000684285.1:c.*511A>C (BSCL2) ENSP00000507669.1:n.*511A>C
ENST00000684475.1:c.869A>C (BSCL2) ENSP00000507429.1:p.Gln290Pro
ENST00000684609.1:n.1396A>C (BSCL2)
ENST00000684720.1:n.2350A>C (BSCL2)