Canonical Allele Identifier: CA679070336

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• dbSNP Id: rs1267501243
• gnomAD v3: 11-62692590-G-A
• gnomAD v4: 11-62692590-G-A
• MyVariant Identifiers: chr11:g.62460062G>A (hg19) ; chr11:g.62692590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692590G>A , CM000673.2:g.62692590G>A	GRCh38
NC_000011.9:g.62460062G>A , CM000673.1:g.62460062G>A	GRCh37
NC_000011.8:g.62216638G>A	NCBI36
NG_008461.1:g.21985C>T
NG_033077.1:g.2310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.957+73C>T (BSCL2)
ENST00000449636.6:c.273+73C>T (BSCL2)	ENSP00000405265.2:n.273+73C>T
ENST00000524862.6:c.765+73C>T (BSCL2)	ENSP00000433888.2:n.765+73C>T
ENST00000682003.1:n.809-117C>T (BSCL2)
ENST00000682223.1:c.765+73C>T (BSCL2)	ENSP00000508140.1:n.765+73C>T
ENST00000682262.1:c.631-1169C>T (BSCL2)	ENSP00000507103.1:n.631-1169C>T
ENST00000682555.1:c.683+73C>T (BSCL2)	ENSP00000507814.1:n.683+73C>T
ENST00000682644.1:n.1157+73C>T (BSCL2)
ENST00000682794.1:n.1075+73C>T (BSCL2)
ENST00000683025.1:c.*412+73C>T (BSCL2)	ENSP00000507028.1:n.*412+73C>T
ENST00000683296.1:c.765+73C>T (BSCL2)	ENSP00000507725.1:n.765+73C>T
ENST00000683368.1:n.956+73C>T (BSCL2)
ENST00000683494.1:n.1230C>T (BSCL2)
ENST00000683846.1:n.1105+73C>T (BSCL2)
ENST00000683892.1:n.1267+73C>T (BSCL2)
ENST00000684067.1:c.765+73C>T (BSCL2)	ENSP00000506799.1:n.765+73C>T
ENST00000684115.1:n.1230C>T (BSCL2)
ENST00000684258.1:n.1193+73C>T (BSCL2)
ENST00000684285.1:c.*272+73C>T (BSCL2)	ENSP00000507669.1:n.*272+73C>T
ENST00000684475.1:c.631-117C>T (BSCL2)	ENSP00000507429.1:n.631-117C>T
ENST00000684609.1:n.1157+73C>T (BSCL2)
ENST00000684720.1:n.1157+73C>T (BSCL2)
ENST00000360796.10:c.765+73C>T (BSCL2) MANE Select	ENSP00000354032.5:n.765+73C>T
ENST00000679883.1:c.765+73C>T (BSCL2)	ENSP00000505838.1:n.765+73C>T
ENST00000278893.11:c.573+73C>T (BSCL2)	ENSP00000278893.7:n.573+73C>T
ENST00000301781.10:c.710+73C>T (BSCL2)	ENSP00000301781.5:n.710+73C>T
ENST00000360796.9:c.765+73C>T (BSCL2)	ENSP00000354032.5:n.765+73C>T
ENST00000403098.6:c.87+73C>T (BSCL2)	ENSP00000384258.2:n.87+73C>T
ENST00000403550.5:c.573+73C>T (BSCL2)	ENSP00000385561.1:n.573+73C>T
ENST00000403734.2:c.*816+73C>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*816+73C>T
ENST00000405837.5:c.765+73C>T (BSCL2)	ENSP00000385332.1:n.765+73C>T
ENST00000407022.7:c.573+73C>T (BSCL2)	ENSP00000384080.3:n.573+73C>T
ENST00000412351.1:n.363+73C>T (BSCL2)
ENST00000421906.5:c.573+73C>T (BSCL2)	ENSP00000413209.1:n.573+73C>T
ENST00000448568.6:c.573+73C>T (BSCL2)	ENSP00000413340.2:n.573+73C>T
ENST00000468505.5:n.135+73C>T (BSCL2)
ENST00000526426.1:n.289+64C>T (BSCL2)
ENST00000532115.5:n.145-117C>T (BSCL2)
NM_001122955.3:c.765+73C>T (BSCL2)	NP_001116427.1:n.765+73C>T
NM_001130702.2:c.573+73C>T (BSCL2)	NP_001124174.2:n.573+73C>T
NM_032667.6:c.573+73C>T (BSCL2)	NP_116056.3:n.573+73C>T
NR_037946.1:n.3285+73C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1367+73C>T (BSCL2)
NR_037949.1:n.1367+73C>T (BSCL2)
NM_001122955.4:c.765+73C>T (BSCL2) MANE Select	NP_001116427.1:n.765+73C>T
NM_001386027.1:c.765+73C>T (BSCL2)	NP_001372956.1:n.765+73C>T
NM_001386028.1:c.765+73C>T (BSCL2)	NP_001372957.1:n.765+73C>T