Canonical Allele Identifier: CA6053435

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 1373094
• ClinVar RCV Id: RCV001875032
• dbSNP Id: rs749862649
• ExAC: 11:62459858 T / C
• gnomAD v2: 11-62459858-T-C
• gnomAD v4: 11-62692386-T-C
• MyVariant Identifiers: chr11:g.62459858T>C (hg19) ; chr11:g.62692386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692386T>C , CM000673.2:g.62692386T>C	GRCh38
NC_000011.9:g.62459858T>C , CM000673.1:g.62459858T>C	GRCh37
NC_000011.8:g.62216434T>C	NCBI36
NG_008461.1:g.22189A>G
NG_033077.1:g.2514A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.1045A>G (BSCL2)
ENST00000449636.6:c.361A>G (BSCL2)	ENSP00000405265.2:p.Thr121Ala
ENST00000524862.6:c.853A>G (BSCL2)	ENSP00000433888.2:p.Thr285Ala
ENST00000682003.1:n.896A>G (BSCL2)
ENST00000682223.1:c.853A>G (BSCL2)	ENSP00000508140.1:p.Thr285Ala
ENST00000682262.1:c.631-965A>G (BSCL2)	ENSP00000507103.1:n.631-965A>G
ENST00000682555.1:c.771A>G (BSCL2)	ENSP00000507814.1:p.Ser257=
ENST00000682644.1:n.1245A>G (BSCL2)
ENST00000682794.1:n.1163A>G (BSCL2)
ENST00000683025.1:c.*500A>G (BSCL2)	ENSP00000507028.1:n.*500A>G
ENST00000683296.1:c.853A>G (BSCL2)	ENSP00000507725.1:p.Thr285Ala
ENST00000683368.1:n.1044A>G (BSCL2)
ENST00000683494.1:n.1434A>G (BSCL2)
ENST00000683846.1:n.1193A>G (BSCL2)
ENST00000683892.1:n.1355A>G (BSCL2)
ENST00000684067.1:c.853A>G (BSCL2)	ENSP00000506799.1:p.Thr285Ala
ENST00000684115.1:n.1434A>G (BSCL2)
ENST00000684258.1:n.1281A>G (BSCL2)
ENST00000684285.1:c.*360A>G (BSCL2)	ENSP00000507669.1:n.*360A>G
ENST00000684475.1:c.718A>G (BSCL2)	ENSP00000507429.1:p.Thr240Ala
ENST00000684609.1:n.1245A>G (BSCL2)
ENST00000684720.1:n.1245A>G (BSCL2)
ENST00000360796.10:c.853A>G (BSCL2) MANE Select	ENSP00000354032.5:p.Thr285Ala
ENST00000679883.1:c.853A>G (BSCL2)	ENSP00000505838.1:p.Thr285Ala
ENST00000278893.11:c.661A>G (BSCL2)	ENSP00000278893.7:p.Thr221Ala
ENST00000301781.10:c.798A>G (BSCL2)	ENSP00000301781.5:p.Ser266=
ENST00000360796.9:c.853A>G (BSCL2)	ENSP00000354032.5:p.Thr285Ala
ENST00000403098.6:c.175A>G (BSCL2)	ENSP00000384258.2:p.Thr59Ala
ENST00000403550.5:c.661A>G (BSCL2)	ENSP00000385561.1:p.Thr221Ala
ENST00000403734.2:c.*904A>G (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*904A>G
ENST00000405837.5:c.853A>G (BSCL2)	ENSP00000385332.1:p.Thr285Ala
ENST00000407022.7:c.661A>G (BSCL2)	ENSP00000384080.3:p.Thr221Ala
ENST00000412351.1:n.451A>G (BSCL2)
ENST00000421906.5:c.661A>G (BSCL2)	ENSP00000413209.1:p.Thr221Ala
ENST00000448568.6:c.661A>G (BSCL2)	ENSP00000413340.2:p.Thr221Ala
ENST00000468505.5:n.223A>G (BSCL2)
ENST00000532115.5:n.232A>G (BSCL2)
NM_001122955.3:c.853A>G (BSCL2)	NP_001116427.1:p.Thr285Ala
NM_001130702.2:c.661A>G (BSCL2)	NP_001124174.2:p.Thr221Ala
NM_032667.6:c.661A>G (BSCL2)	NP_116056.3:p.Thr221Ala
NR_037946.1:n.3373A>G (HNRNPUL2-BSCL2)
NR_037948.1:n.1455A>G (BSCL2)
NR_037949.1:n.1455A>G (BSCL2)
NM_001122955.4:c.853A>G (BSCL2) MANE Select	NP_001116427.1:p.Thr285Ala
NM_001386027.1:c.853A>G (BSCL2)	NP_001372956.1:p.Thr285Ala
NM_001386028.1:c.853A>G (BSCL2)	NP_001372957.1:p.Thr285Ala