Canonical Allele Identifier: CA380962022

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• MyVariant Identifiers: chr11:g.62459876G>T (hg19) ; chr11:g.62692404G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692404G>T , CM000673.2:g.62692404G>T	GRCh38
NC_000011.9:g.62459876G>T , CM000673.1:g.62459876G>T	GRCh37
NC_000011.8:g.62216452G>T	NCBI36
NG_008461.1:g.22171C>A
NG_033077.1:g.2496C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1027C>A (BSCL2)
ENST00000449636.6:c.343C>A (BSCL2)	ENSP00000405265.2:p.Arg115Ser
ENST00000524862.6:c.835C>A (BSCL2)	ENSP00000433888.2:p.Arg279Ser
ENST00000682003.1:n.878C>A (BSCL2)
ENST00000682223.1:c.835C>A (BSCL2)	ENSP00000508140.1:p.Arg279Ser
ENST00000682262.1:c.631-983C>A (BSCL2)	ENSP00000507103.1:n.631-983C>A
ENST00000682555.1:c.753C>A (BSCL2)	ENSP00000507814.1:p.Ser251=
ENST00000682644.1:n.1227C>A (BSCL2)
ENST00000682794.1:n.1145C>A (BSCL2)
ENST00000683025.1:c.*482C>A (BSCL2)	ENSP00000507028.1:n.*482C>A
ENST00000683296.1:c.835C>A (BSCL2)	ENSP00000507725.1:p.Arg279Ser
ENST00000683368.1:n.1026C>A (BSCL2)
ENST00000683494.1:n.1416C>A (BSCL2)
ENST00000683846.1:n.1175C>A (BSCL2)
ENST00000683892.1:n.1337C>A (BSCL2)
ENST00000684067.1:c.835C>A (BSCL2)	ENSP00000506799.1:p.Arg279Ser
ENST00000684115.1:n.1416C>A (BSCL2)
ENST00000684258.1:n.1263C>A (BSCL2)
ENST00000684285.1:c.*342C>A (BSCL2)	ENSP00000507669.1:n.*342C>A
ENST00000684475.1:c.700C>A (BSCL2)	ENSP00000507429.1:p.Arg234Ser
ENST00000684609.1:n.1227C>A (BSCL2)
ENST00000684720.1:n.1227C>A (BSCL2)
ENST00000360796.10:c.835C>A (BSCL2) MANE Select	ENSP00000354032.5:p.Arg279Ser
ENST00000679883.1:c.835C>A (BSCL2)	ENSP00000505838.1:p.Arg279Ser
ENST00000278893.11:c.643C>A (BSCL2)	ENSP00000278893.7:p.Arg215Ser
ENST00000301781.10:c.780C>A (BSCL2)	ENSP00000301781.5:p.Ser260=
ENST00000360796.9:c.835C>A (BSCL2)	ENSP00000354032.5:p.Arg279Ser
ENST00000403098.6:c.157C>A (BSCL2)	ENSP00000384258.2:p.Arg53Ser
ENST00000403550.5:c.643C>A (BSCL2)	ENSP00000385561.1:p.Arg215Ser
ENST00000403734.2:c.*886C>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*886C>A
ENST00000405837.5:c.835C>A (BSCL2)	ENSP00000385332.1:p.Arg279Ser
ENST00000407022.7:c.643C>A (BSCL2)	ENSP00000384080.3:p.Arg215Ser
ENST00000412351.1:n.433C>A (BSCL2)
ENST00000421906.5:c.643C>A (BSCL2)	ENSP00000413209.1:p.Arg215Ser
ENST00000448568.6:c.643C>A (BSCL2)	ENSP00000413340.2:p.Arg215Ser
ENST00000468505.5:n.205C>A (BSCL2)
ENST00000532115.5:n.214C>A (BSCL2)
NM_001122955.3:c.835C>A (BSCL2)	NP_001116427.1:p.Arg279Ser
NM_001130702.2:c.643C>A (BSCL2)	NP_001124174.2:p.Arg215Ser
NM_032667.6:c.643C>A (BSCL2)	NP_116056.3:p.Arg215Ser
NR_037946.1:n.3355C>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1437C>A (BSCL2)
NR_037949.1:n.1437C>A (BSCL2)
NM_001122955.4:c.835C>A (BSCL2) MANE Select	NP_001116427.1:p.Arg279Ser
NM_001386027.1:c.835C>A (BSCL2)	NP_001372956.1:p.Arg279Ser
NM_001386028.1:c.835C>A (BSCL2)	NP_001372957.1:p.Arg279Ser