Canonical Allele Identifier: CA380961901

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• MyVariant Identifiers: chr11:g.62459848C>A (hg19) ; chr11:g.62692376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692376C>A , CM000673.2:g.62692376C>A	GRCh38
NC_000011.9:g.62459848C>A , CM000673.1:g.62459848C>A	GRCh37
NC_000011.8:g.62216424C>A	NCBI36
NG_008461.1:g.22199G>T
NG_033077.1:g.2524G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.1055G>T (BSCL2)
ENST00000449636.6:c.371G>T (BSCL2)	ENSP00000405265.2:p.Arg124Ile
ENST00000524862.6:c.863G>T (BSCL2)	ENSP00000433888.2:p.Arg288Ile
ENST00000682003.1:n.906G>T (BSCL2)
ENST00000682223.1:c.863G>T (BSCL2)	ENSP00000508140.1:p.Arg288Ile
ENST00000682262.1:c.631-955G>T (BSCL2)	ENSP00000507103.1:n.631-955G>T
ENST00000682555.1:c.781G>T (BSCL2)	ENSP00000507814.1:p.Asp261Tyr
ENST00000682644.1:n.1255G>T (BSCL2)
ENST00000682794.1:n.1173G>T (BSCL2)
ENST00000683025.1:c.*510G>T (BSCL2)	ENSP00000507028.1:n.*510G>T
ENST00000683296.1:c.863G>T (BSCL2)	ENSP00000507725.1:p.Arg288Ile
ENST00000683368.1:n.1054G>T (BSCL2)
ENST00000683494.1:n.1444G>T (BSCL2)
ENST00000683846.1:n.1203G>T (BSCL2)
ENST00000683892.1:n.1365G>T (BSCL2)
ENST00000684067.1:c.863G>T (BSCL2)	ENSP00000506799.1:p.Arg288Ile
ENST00000684115.1:n.1444G>T (BSCL2)
ENST00000684258.1:n.1291G>T (BSCL2)
ENST00000684285.1:c.*370G>T (BSCL2)	ENSP00000507669.1:n.*370G>T
ENST00000684475.1:c.728G>T (BSCL2)	ENSP00000507429.1:p.Arg243Ile
ENST00000684609.1:n.1255G>T (BSCL2)
ENST00000684720.1:n.1255G>T (BSCL2)
ENST00000360796.10:c.863G>T (BSCL2) MANE Select	ENSP00000354032.5:p.Arg288Ile
ENST00000679883.1:c.863G>T (BSCL2)	ENSP00000505838.1:p.Arg288Ile
ENST00000278893.11:c.671G>T (BSCL2)	ENSP00000278893.7:p.Arg224Met
ENST00000301781.10:c.808G>T (BSCL2)	ENSP00000301781.5:p.Asp270Tyr
ENST00000360796.9:c.863G>T (BSCL2)	ENSP00000354032.5:p.Arg288Ile
ENST00000403098.6:c.185G>T (BSCL2)	ENSP00000384258.2:p.Ser62Ile
ENST00000403550.5:c.671G>T (BSCL2)	ENSP00000385561.1:p.Arg224Ile
ENST00000403734.2:c.*914G>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*914G>T
ENST00000405837.5:c.863G>T (BSCL2)	ENSP00000385332.1:p.Arg288Ile
ENST00000407022.7:c.671G>T (BSCL2)	ENSP00000384080.3:p.Arg224Ile
ENST00000412351.1:n.461G>T (BSCL2)
ENST00000421906.5:c.671G>T (BSCL2)	ENSP00000413209.1:p.Arg224Ile
ENST00000448568.6:c.671G>T (BSCL2)
ENST00000468505.5:n.233G>T (BSCL2)
ENST00000532115.5:n.242G>T (BSCL2)
NM_001122955.3:c.863G>T (BSCL2)	NP_001116427.1:p.Arg288Ile
NM_001130702.2:c.671G>T (BSCL2)	NP_001124174.2:p.Arg224Met
NM_032667.6:c.671G>T (BSCL2)	NP_116056.3:p.Arg224Ile
NR_037946.1:n.3383G>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1465G>T (BSCL2)
NR_037949.1:n.1465G>T (BSCL2)
NM_001122955.4:c.863G>T (BSCL2) MANE Select	NP_001116427.1:p.Arg288Ile
NM_001386027.1:c.863G>T (BSCL2)	NP_001372956.1:p.Arg288Ile
NM_001386028.1:c.863G>T (BSCL2)	NP_001372957.1:p.Arg288Ile