Canonical Allele Identifier: CA16606348

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 381311
• ClinVar RCV Id: RCV000441305 ; RCV001662383 ; RCV002524893
• dbSNP Id: rs1057521013
• gnomAD v4: 11-62691149-G-A
• MyVariant Identifiers: chr11:g.62458621G>A (hg19) ; chr11:g.62691149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62691149G>A , CM000673.2:g.62691149G>A	GRCh38
NC_000011.9:g.62458621G>A , CM000673.1:g.62458621G>A	GRCh37
NC_000011.8:g.62215197G>A	NCBI36
NG_008461.1:g.23426C>T
NG_033077.1:g.3751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1328C>T (BSCL2)
ENST00000449636.6:c.514-8C>T (BSCL2)	ENSP00000405265.2:n.514-8C>T
ENST00000463679.6:n.781C>T (BSCL2)
ENST00000524862.6:c.1006-8C>T (BSCL2)	ENSP00000433888.2:n.1006-8C>T
ENST00000682003.1:n.1179C>T (BSCL2)
ENST00000682223.1:c.1006-8C>T (BSCL2)	ENSP00000508140.1:n.1006-8C>T
ENST00000682262.1:c.*60C>T (BSCL2)	ENSP00000507103.1:n.*60C>T
ENST00000682555.1:c.*117-8C>T (BSCL2)	ENSP00000507814.1:n.*117-8C>T
ENST00000682644.1:n.1528C>T (BSCL2)
ENST00000682794.1:n.1316-8C>T (BSCL2)
ENST00000683025.1:c.*783C>T (BSCL2)	ENSP00000507028.1:n.*783C>T
ENST00000683193.1:n.718C>T (BSCL2)
ENST00000683296.1:c.1006-8C>T (BSCL2)	ENSP00000507725.1:n.1006-8C>T
ENST00000683368.1:n.1197-8C>T (BSCL2)
ENST00000683494.1:n.2671C>T (BSCL2)
ENST00000683846.1:n.1346-8C>T (BSCL2)
ENST00000683892.1:n.1638C>T (BSCL2)
ENST00000684067.1:c.1006-8C>T (BSCL2)	ENSP00000506799.1:n.1006-8C>T
ENST00000684115.1:n.1587-8C>T (BSCL2)
ENST00000684258.1:n.1564C>T (BSCL2)
ENST00000684285.1:c.*513-8C>T (BSCL2)	ENSP00000507669.1:n.*513-8C>T
ENST00000684475.1:c.871-8C>T (BSCL2)	ENSP00000507429.1:n.871-8C>T
ENST00000684609.1:n.1528C>T (BSCL2)
ENST00000684720.1:n.2482C>T (BSCL2)
ENST00000360796.10:c.1006-8C>T (BSCL2) MANE Select	ENSP00000354032.5:n.1006-8C>T
ENST00000679883.1:c.1006-8C>T (BSCL2)	ENSP00000505838.1:n.1006-8C>T
ENST00000278893.11:c.672-8C>T (BSCL2)	ENSP00000278893.7:n.672-8C>T
ENST00000301781.10:c.*117-8C>T (BSCL2)	ENSP00000301781.5:n.*117-8C>T
ENST00000360796.9:c.1006-8C>T (BSCL2)	ENSP00000354032.5:n.1006-8C>T
ENST00000403098.6:c.186-728C>T (BSCL2)	ENSP00000384258.2:n.186-728C>T
ENST00000403550.5:c.814-8C>T (BSCL2)	ENSP00000385561.1:n.814-8C>T
ENST00000403734.2:c.*1057-8C>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*1057-8C>T
ENST00000405837.5:c.1006-8C>T (BSCL2)	ENSP00000385332.1:n.1006-8C>T
ENST00000407022.7:c.814-8C>T (BSCL2)	ENSP00000384080.3:n.814-8C>T
ENST00000421906.5:c.814-8C>T (BSCL2)	ENSP00000413209.1:n.814-8C>T
ENST00000449636.5:c.61-8C>T (BSCL2)	ENSP00000405265.1:n.61-8C>T
ENST00000463679.5:n.194C>T (BSCL2)
ENST00000468505.5:n.376-8C>T (BSCL2)
ENST00000470529.5:n.30C>T (BSCL2)
NM_001122955.3:c.1006-8C>T (BSCL2)	NP_001116427.1:n.1006-8C>T
NM_001130702.2:c.672-8C>T (BSCL2)	NP_001124174.2:n.672-8C>T
NM_032667.6:c.814-8C>T (BSCL2)	NP_116056.3:n.814-8C>T
NR_037946.1:n.3526-8C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1608-8C>T (BSCL2)
NR_037949.1:n.1608-8C>T (BSCL2)
NM_001122955.4:c.1006-8C>T (BSCL2) MANE Select	NP_001116427.1:n.1006-8C>T
NM_001386027.1:c.1006-8C>T (BSCL2)	NP_001372956.1:n.1006-8C>T
NM_001386028.1:c.1006-8C>T (BSCL2)	NP_001372957.1:n.1006-8C>T