Canonical Allele Identifier: CA2613985604

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• gnomAD v4: 11-62705233-C-CTGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62705238_62705241dup , CM000673.2:g.62705238_62705241dup	GRCh38
NC_000011.9:g.62472710_62472713dup , CM000673.1:g.62472710_62472713dup	GRCh37
NC_000011.8:g.62229286_62229289dup	NCBI36
NG_008461.1:g.9338_9341dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449636.6:c.-89+1872_-89+1875dup (BSCL2)	ENSP00000405265.2:n.-89+1872_-89+1875dup
ENST00000524862.6:c.404+64_404+67dup (BSCL2)	ENSP00000433888.2:n.404+64_404+67dup
ENST00000682223.1:c.404+64_404+67dup (BSCL2)	ENSP00000508140.1:n.404+64_404+67dup
ENST00000682262.1:c.404+64_404+67dup (BSCL2)	ENSP00000507103.1:n.404+64_404+67dup
ENST00000682555.1:c.404+64_404+67dup (BSCL2)	ENSP00000507814.1:n.404+64_404+67dup
ENST00000682644.1:n.796+64_796+67dup (BSCL2)
ENST00000682794.1:n.796+64_796+67dup (BSCL2)
ENST00000683025.1:c.404+64_404+67dup (BSCL2)	ENSP00000507028.1:n.404+64_404+67dup
ENST00000683296.1:c.404+64_404+67dup (BSCL2)	ENSP00000507725.1:n.404+64_404+67dup
ENST00000683494.1:n.796+64_796+67dup (BSCL2)
ENST00000683892.1:n.906+64_906+67dup (BSCL2)
ENST00000684067.1:c.404+64_404+67dup (BSCL2)	ENSP00000506799.1:n.404+64_404+67dup
ENST00000684115.1:n.796+64_796+67dup (BSCL2)
ENST00000684285.1:c.404+64_404+67dup (BSCL2)	ENSP00000507669.1:n.404+64_404+67dup
ENST00000684475.1:c.404+64_404+67dup (BSCL2)	ENSP00000507429.1:n.404+64_404+67dup
ENST00000684609.1:n.796+64_796+67dup (BSCL2)
ENST00000684720.1:n.796+64_796+67dup (BSCL2)
ENST00000360796.10:c.404+64_404+67dup (BSCL2) MANE Select	ENSP00000354032.5:n.404+64_404+67dup
ENST00000679883.1:c.404+64_404+67dup (BSCL2)	ENSP00000505838.1:n.404+64_404+67dup
ENST00000278893.11:c.212+64_212+67dup (BSCL2)	ENSP00000278893.7:n.212+64_212+67dup
ENST00000301781.10:c.404+64_404+67dup (BSCL2)	ENSP00000301781.5:n.404+64_404+67dup
ENST00000360796.9:c.404+64_404+67dup (BSCL2)	ENSP00000354032.5:n.404+64_404+67dup
ENST00000403550.5:c.212+64_212+67dup (BSCL2)	ENSP00000385561.1:n.212+64_212+67dup
ENST00000403734.2:c.*455+64_*455+67dup (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*455+64_*455+67dup
ENST00000405837.5:c.404+64_404+67dup (BSCL2)	ENSP00000385332.1:n.404+64_404+67dup
ENST00000407022.7:c.212+64_212+67dup (BSCL2)	ENSP00000384080.3:n.212+64_212+67dup
ENST00000421906.5:c.212+64_212+67dup (BSCL2)	ENSP00000413209.1:n.212+64_212+67dup
ENST00000448568.6:c.212+64_212+67dup (BSCL2)	ENSP00000413340.2:n.212+64_212+67dup
ENST00000524862.5:c.404+64_404+67dup (BSCL2)	ENSP00000433888.1:n.404+64_404+67dup
ENST00000525000.5:c.36+1872_36+1875dup (BSCL2)
ENST00000530900.1:n.204+231_204+234dup (BSCL2)
ENST00000531524.5:c.87+1872_87+1875dup (BSCL2)	ENSP00000436026.1:n.87+1872_87+1875dup
ENST00000533982.1:c.212+64_212+67dup (BSCL2)	ENSP00000434149.1:n.212+64_212+67dup
ENST00000537604.5:n.455+231_455+234dup (BSCL2)
NM_001122955.3:c.404+64_404+67dup (BSCL2)	NP_001116427.1:n.404+64_404+67dup
NM_001130702.2:c.212+64_212+67dup (BSCL2)	NP_001124174.2:n.212+64_212+67dup
NM_032667.6:c.212+64_212+67dup (BSCL2)	NP_116056.3:n.212+64_212+67dup
NR_037946.1:n.2924+64_2924+67dup (HNRNPUL2-BSCL2)
NR_037948.1:n.1006+64_1006+67dup (BSCL2)
NR_037949.1:n.1006+64_1006+67dup (BSCL2)
NM_001122955.4:c.404+64_404+67dup (BSCL2) MANE Select	NP_001116427.1:n.404+64_404+67dup
NM_001386027.1:c.404+64_404+67dup (BSCL2)	NP_001372956.1:n.404+64_404+67dup
NM_001386028.1:c.404+64_404+67dup (BSCL2)	NP_001372957.1:n.404+64_404+67dup