Canonical Allele Identifier: CA16042201
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372117
ClinVar RCV Id: RCV000412607
dbSNP Id: rs1013079991

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62692475T>C , CM000673.2:g.62692475T>C GRCh38
NC_000011.9:g.62459947T>C , CM000673.1:g.62459947T>C GRCh37
NC_000011.8:g.62216523T>C NCBI36
NG_008461.1:g.22100A>G
NG_033077.1:g.2425A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000412351.2:n.958-2A>G (BSCL2)
ENST00000449636.6:c.274-2A>G (BSCL2) ENSP00000405265.2:n.274-2A>G
ENST00000524862.6:c.766-2A>G (BSCL2) ENSP00000433888.2:n.766-2A>G
ENST00000682003.1:n.809-2A>G (BSCL2)
ENST00000682223.1:c.766-2A>G (BSCL2) ENSP00000508140.1:n.766-2A>G
ENST00000682262.1:c.631-1054A>G (BSCL2) ENSP00000507103.1:n.631-1054A>G
ENST00000682555.1:c.684-2A>G (BSCL2) ENSP00000507814.1:n.684-2A>G
ENST00000682644.1:n.1158-2A>G (BSCL2)
ENST00000682794.1:n.1076-2A>G (BSCL2)
ENST00000683025.1:c.*413-2A>G (BSCL2) ENSP00000507028.1:n.*413-2A>G
ENST00000683296.1:c.766-2A>G (BSCL2) ENSP00000507725.1:n.766-2A>G
ENST00000683368.1:n.957-2A>G (BSCL2)
ENST00000683494.1:n.1345A>G (BSCL2)
ENST00000683846.1:n.1106-2A>G (BSCL2)
ENST00000683892.1:n.1268-2A>G (BSCL2)
ENST00000684067.1:c.766-2A>G (BSCL2) ENSP00000506799.1:n.766-2A>G
ENST00000684115.1:n.1345A>G (BSCL2)
ENST00000684258.1:n.1194-2A>G (BSCL2)
ENST00000684285.1:c.*273-2A>G (BSCL2) ENSP00000507669.1:n.*273-2A>G
ENST00000684475.1:c.631-2A>G (BSCL2) ENSP00000507429.1:n.631-2A>G
ENST00000684609.1:n.1158-2A>G (BSCL2)
ENST00000684720.1:n.1158-2A>G (BSCL2)
ENST00000360796.10:c.766-2A>G (BSCL2) MANE Select ENSP00000354032.5:n.766-2A>G
ENST00000679883.1:c.766-2A>G (BSCL2) ENSP00000505838.1:n.766-2A>G
ENST00000278893.11:c.574-2A>G (BSCL2) ENSP00000278893.7:n.574-2A>G
ENST00000301781.10:c.711-2A>G (BSCL2) ENSP00000301781.5:n.711-2A>G
ENST00000360796.9:c.766-2A>G (BSCL2) ENSP00000354032.5:n.766-2A>G
ENST00000403098.6:c.88-2A>G (BSCL2) ENSP00000384258.2:n.88-2A>G
ENST00000403550.5:c.574-2A>G (BSCL2) ENSP00000385561.1:n.574-2A>G
ENST00000403734.2:c.*817-2A>G (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*817-2A>G
ENST00000405837.5:c.766-2A>G (BSCL2) ENSP00000385332.1:n.766-2A>G
ENST00000407022.7:c.574-2A>G (BSCL2) ENSP00000384080.3:n.574-2A>G
ENST00000412351.1:n.364-2A>G (BSCL2)
ENST00000421906.5:c.574-2A>G (BSCL2) ENSP00000413209.1:n.574-2A>G
ENST00000448568.6:c.574-2A>G (BSCL2) ENSP00000413340.2:n.574-2A>G
ENST00000468505.5:n.136-2A>G (BSCL2)
ENST00000526426.1:n.290-2A>G (BSCL2)
ENST00000532115.5:n.145-2A>G (BSCL2)
NM_001122955.3:c.766-2A>G (BSCL2) NP_001116427.1:n.766-2A>G
NM_001130702.2:c.574-2A>G (BSCL2) NP_001124174.2:n.574-2A>G
NM_032667.6:c.574-2A>G (BSCL2) NP_116056.3:n.574-2A>G
NR_037946.1:n.3286-2A>G (HNRNPUL2-BSCL2)
NR_037948.1:n.1368-2A>G (BSCL2)
NR_037949.1:n.1368-2A>G (BSCL2)
NM_001122955.4:c.766-2A>G (BSCL2) MANE Select NP_001116427.1:n.766-2A>G
NM_001386027.1:c.766-2A>G (BSCL2) NP_001372956.1:n.766-2A>G
NM_001386028.1:c.766-2A>G (BSCL2) NP_001372957.1:n.766-2A>G