Canonical Allele Identifier: CA6053326

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62690838G>T , CM000673.2:g.62690838G>T	GRCh38
NC_000011.9:g.62458310G>T , CM000673.1:g.62458310G>T	GRCh37
NC_000011.8:g.62214886G>T	NCBI36
NG_008461.1:g.23737C>A
NG_033077.1:g.4062C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001122955.4:c.1102C>A (BSCL2) MANE Select	NP_001116427.1:p.Gln368Lys
ENST00000360796.10:c.1102C>A (BSCL2) MANE Select	ENSP00000354032.5:p.Gln368Lys
NM_001122955.3:c.1102C>A (BSCL2)	NP_001116427.1:p.Gln368Lys
NM_001130702.2:c.768C>A (BSCL2)	NP_001124174.2:p.Arg256=
NM_001386027.1:c.1108C>A (BSCL2)	NP_001372956.1:p.Gln370Lys
NM_001386028.1:c.1102C>A (BSCL2)	NP_001372957.1:p.Gln368Lys
NM_032667.6:c.910C>A (BSCL2)	NP_116056.3:p.Gln304Lys
NR_037946.1:n.3622C>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1704C>A (BSCL2)
NR_037949.1:n.1710C>A (BSCL2)
ENST00000278893.11:c.768C>A (BSCL2)	ENSP00000278893.7:p.Arg256=
ENST00000301781.10:c.*213C>A (BSCL2)	ENSP00000301781.5:n.*213C>A
ENST00000360796.9:c.1102C>A (BSCL2)	ENSP00000354032.5:p.Gln368Lys
ENST00000403098.6:c.186-417C>A (BSCL2)	ENSP00000384258.2:n.186-417C>A
ENST00000403550.5:c.910C>A (BSCL2)	ENSP00000385561.1:p.Gln304Lys
ENST00000403734.2:c.*1153C>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*1153C>A
ENST00000405837.5:c.1108C>A (BSCL2)	ENSP00000385332.1:p.Gln370Lys
ENST00000407022.7:c.910C>A (BSCL2)	ENSP00000384080.3:p.Gln304Lys
ENST00000412351.2:n.1432C>A (BSCL2)
ENST00000421906.5:c.910C>A (BSCL2)	ENSP00000413209.1:p.Gln304Lys
ENST00000449636.5:c.157C>A (BSCL2)	ENSP00000405265.1:p.Gln53Lys
ENST00000449636.6:c.610C>A (BSCL2)	ENSP00000405265.2:p.Gln204Lys
ENST00000463679.5:n.505C>A (BSCL2)
ENST00000463679.6:n.1092C>A (BSCL2)
ENST00000470529.5:n.134C>A (BSCL2)
ENST00000524862.6:c.1102C>A (BSCL2)	ENSP00000433888.2:p.Gln368Lys
ENST00000679883.1:c.1102C>A (BSCL2)	ENSP00000505838.1:p.Gln368Lys
ENST00000682003.1:n.1490C>A (BSCL2)
ENST00000682223.1:c.1102C>A (BSCL2)	ENSP00000508140.1:p.Gln368Lys
ENST00000682262.1:c.*164C>A (BSCL2)	ENSP00000507103.1:n.*164C>A
ENST00000682555.1:c.*213C>A (BSCL2)	ENSP00000507814.1:n.*213C>A
ENST00000682644.1:n.1839C>A (BSCL2)
ENST00000682794.1:n.1619C>A (BSCL2)
ENST00000683025.1:c.*887C>A (BSCL2)	ENSP00000507028.1:n.*887C>A
ENST00000683193.1:n.822C>A (BSCL2)
ENST00000683296.1:c.1102C>A (BSCL2)	ENSP00000507725.1:p.Gln368Lys
ENST00000683368.1:n.1500C>A (BSCL2)
ENST00000683494.1:n.2982C>A (BSCL2)
ENST00000683846.1:n.1442C>A (BSCL2)
ENST00000683892.1:n.1742C>A (BSCL2)
ENST00000684067.1:c.1073-107C>A (BSCL2)	ENSP00000506799.1:n.1073-107C>A
ENST00000684115.1:n.1683C>A (BSCL2)
ENST00000684258.1:n.1875C>A (BSCL2)
ENST00000684285.1:c.*609C>A (BSCL2)	ENSP00000507669.1:n.*609C>A
ENST00000684475.1:c.967C>A (BSCL2)	ENSP00000507429.1:p.Gln323Lys
ENST00000684609.1:n.1839C>A (BSCL2)
ENST00000684720.1:n.2793C>A (BSCL2)