Canonical Allele Identifier: CA380963114

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• gnomAD v4: 11-62692754-G-A
• MyVariant Identifiers: chr11:g.62460226G>A (hg19) ; chr11:g.62692754G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692754G>A , CM000673.2:g.62692754G>A	GRCh38
NC_000011.9:g.62460226G>A , CM000673.1:g.62460226G>A	GRCh37
NC_000011.8:g.62216802G>A	NCBI36
NG_008461.1:g.21821C>T
NG_033077.1:g.2146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.866C>T (BSCL2)
ENST00000449636.6:c.182C>T (BSCL2)	ENSP00000405265.2:p.Thr61Ile
ENST00000524862.6:c.674C>T (BSCL2)	ENSP00000433888.2:p.Thr225Ile
ENST00000682003.1:n.809-281C>T (BSCL2)
ENST00000682223.1:c.674C>T (BSCL2)	ENSP00000508140.1:p.Thr225Ile
ENST00000682262.1:c.631-1333C>T (BSCL2)	ENSP00000507103.1:n.631-1333C>T
ENST00000682555.1:c.631-39C>T (BSCL2)	ENSP00000507814.1:n.631-39C>T
ENST00000682644.1:n.1066C>T (BSCL2)
ENST00000682794.1:n.984C>T (BSCL2)
ENST00000683025.1:c.*321C>T (BSCL2)	ENSP00000507028.1:n.*321C>T
ENST00000683296.1:c.674C>T (BSCL2)	ENSP00000507725.1:p.Thr225Ile
ENST00000683368.1:n.865C>T (BSCL2)
ENST00000683494.1:n.1066C>T (BSCL2)
ENST00000683846.1:n.1014C>T (BSCL2)
ENST00000683892.1:n.1176C>T (BSCL2)
ENST00000684067.1:c.674C>T (BSCL2)	ENSP00000506799.1:p.Thr225Ile
ENST00000684115.1:n.1066C>T (BSCL2)
ENST00000684258.1:n.1102C>T (BSCL2)
ENST00000684285.1:c.*181C>T (BSCL2)	ENSP00000507669.1:n.*181C>T
ENST00000684475.1:c.631-281C>T (BSCL2)	ENSP00000507429.1:n.631-281C>T
ENST00000684609.1:n.1066C>T (BSCL2)
ENST00000684720.1:n.1066C>T (BSCL2)
ENST00000360796.10:c.674C>T (BSCL2) MANE Select	ENSP00000354032.5:p.Thr225Ile
ENST00000679883.1:c.674C>T (BSCL2)	ENSP00000505838.1:p.Thr225Ile
ENST00000278893.11:c.482C>T (BSCL2)	ENSP00000278893.7:p.Thr161Ile
ENST00000301781.10:c.635-16C>T (BSCL2)	ENSP00000301781.5:n.635-16C>T
ENST00000360796.9:c.674C>T (BSCL2)	ENSP00000354032.5:p.Thr225Ile
ENST00000403550.5:c.482C>T (BSCL2)	ENSP00000385561.1:p.Thr161Ile
ENST00000403734.2:c.*725C>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*725C>T
ENST00000405837.5:c.674C>T (BSCL2)	ENSP00000385332.1:p.Thr225Ile
ENST00000407022.7:c.482C>T (BSCL2)	ENSP00000384080.3:p.Thr161Ile
ENST00000412351.1:n.272C>T (BSCL2)
ENST00000421906.5:c.482C>T (BSCL2)	ENSP00000413209.1:p.Thr161Ile
ENST00000448568.6:c.482C>T (BSCL2)	ENSP00000413340.2:p.Thr161Ile
ENST00000468505.5:n.44C>T (BSCL2)
ENST00000524862.5:c.674C>T (BSCL2)	ENSP00000433888.1:p.Thr225Ile
ENST00000526426.1:n.189C>T (BSCL2)
ENST00000531524.5:c.275C>T (BSCL2)	ENSP00000436026.1:p.Thr92Ile
ENST00000532115.5:n.145-281C>T (BSCL2)
NM_001122955.3:c.674C>T (BSCL2)	NP_001116427.1:p.Thr225Ile
NM_001130702.2:c.482C>T (BSCL2)	NP_001124174.2:p.Thr161Ile
NM_032667.6:c.482C>T (BSCL2)	NP_116056.3:p.Thr161Ile
NR_037946.1:n.3194C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1276C>T (BSCL2)
NR_037949.1:n.1276C>T (BSCL2)
NM_001122955.4:c.674C>T (BSCL2) MANE Select	NP_001116427.1:p.Thr225Ile
NM_001386027.1:c.674C>T (BSCL2)	NP_001372956.1:p.Thr225Ile
NM_001386028.1:c.674C>T (BSCL2)	NP_001372957.1:p.Thr225Ile