Canonical Allele Identifier: CA2613985296

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• gnomAD v4: 11-62692299-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692299C>A , CM000673.2:g.62692299C>A	GRCh38
NC_000011.9:g.62459771C>A , CM000673.1:g.62459771C>A	GRCh37
NC_000011.8:g.62216347C>A	NCBI36
NG_008461.1:g.22276G>T
NG_033077.1:g.2601G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.1055+77G>T (BSCL2)
ENST00000449636.6:c.371+77G>T (BSCL2)	ENSP00000405265.2:n.371+77G>T
ENST00000524862.6:c.863+77G>T (BSCL2)	ENSP00000433888.2:n.863+77G>T
ENST00000682003.1:n.906+77G>T (BSCL2)
ENST00000682223.1:c.863+77G>T (BSCL2)	ENSP00000508140.1:n.863+77G>T
ENST00000682262.1:c.631-878G>T (BSCL2)	ENSP00000507103.1:n.631-878G>T
ENST00000682555.1:c.781+77G>T (BSCL2)	ENSP00000507814.1:n.781+77G>T
ENST00000682644.1:n.1255+77G>T (BSCL2)
ENST00000682794.1:n.1173+77G>T (BSCL2)
ENST00000683025.1:c.*510+77G>T (BSCL2)	ENSP00000507028.1:n.*510+77G>T
ENST00000683296.1:c.863+77G>T (BSCL2)	ENSP00000507725.1:n.863+77G>T
ENST00000683368.1:n.1054+77G>T (BSCL2)
ENST00000683494.1:n.1521G>T (BSCL2)
ENST00000683846.1:n.1203+77G>T (BSCL2)
ENST00000683892.1:n.1365+77G>T (BSCL2)
ENST00000684067.1:c.863+77G>T (BSCL2)	ENSP00000506799.1:n.863+77G>T
ENST00000684115.1:n.1444+77G>T (BSCL2)
ENST00000684258.1:n.1291+77G>T (BSCL2)
ENST00000684285.1:c.*370+77G>T (BSCL2)	ENSP00000507669.1:n.*370+77G>T
ENST00000684475.1:c.728+77G>T (BSCL2)	ENSP00000507429.1:n.728+77G>T
ENST00000684609.1:n.1255+77G>T (BSCL2)
ENST00000684720.1:n.1332G>T (BSCL2)
ENST00000360796.10:c.863+77G>T (BSCL2) MANE Select	ENSP00000354032.5:n.863+77G>T
ENST00000679883.1:c.863+77G>T (BSCL2)	ENSP00000505838.1:n.863+77G>T
ENST00000278893.11:c.671+77G>T (BSCL2)	ENSP00000278893.7:n.671+77G>T
ENST00000301781.10:c.808+77G>T (BSCL2)	ENSP00000301781.5:n.808+77G>T
ENST00000360796.9:c.863+77G>T (BSCL2)	ENSP00000354032.5:n.863+77G>T
ENST00000403098.6:c.185+77G>T (BSCL2)	ENSP00000384258.2:n.185+77G>T
ENST00000403550.5:c.671+77G>T (BSCL2)	ENSP00000385561.1:n.671+77G>T
ENST00000403734.2:c.*914+77G>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*914+77G>T
ENST00000405837.5:c.863+77G>T (BSCL2)	ENSP00000385332.1:n.863+77G>T
ENST00000407022.7:c.671+77G>T (BSCL2)	ENSP00000384080.3:n.671+77G>T
ENST00000412351.1:n.461+77G>T (BSCL2)
ENST00000421906.5:c.671+77G>T (BSCL2)	ENSP00000413209.1:n.671+77G>T
ENST00000468505.5:n.233+77G>T (BSCL2)
ENST00000532115.5:n.242+77G>T (BSCL2)
NM_001122955.3:c.863+77G>T (BSCL2)	NP_001116427.1:n.863+77G>T
NM_001130702.2:c.671+77G>T (BSCL2)	NP_001124174.2:n.671+77G>T
NM_032667.6:c.671+77G>T (BSCL2)	NP_116056.3:n.671+77G>T
NR_037946.1:n.3383+77G>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1465+77G>T (BSCL2)
NR_037949.1:n.1465+77G>T (BSCL2)
NM_001122955.4:c.863+77G>T (BSCL2) MANE Select	NP_001116427.1:n.863+77G>T
NM_001386027.1:c.863+77G>T (BSCL2)	NP_001372956.1:n.863+77G>T
NM_001386028.1:c.863+77G>T (BSCL2)	NP_001372957.1:n.863+77G>T