Canonical Allele Identifier: CA6053537

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 1694052
• ClinVar RCV Id: RCV002261921 ; RCV003095911
• dbSNP Id: rs377609967
• ExAC: 11:62462158 C / A
• gnomAD v2: 11-62462158-C-A
• gnomAD v3: 11-62694686-C-A
• gnomAD v4: 11-62694686-C-A
• MyVariant Identifiers: chr11:g.62462158C>A (hg19) ; chr11:g.62694686C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62694686C>A , CM000673.2:g.62694686C>A	GRCh38
NC_000011.9:g.62462158C>A , CM000673.1:g.62462158C>A	GRCh37
NC_000011.8:g.62218734C>A	NCBI36
NG_008461.1:g.19889G>T
NG_033077.1:g.214G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.704G>T (BSCL2)
ENST00000449636.6:c.20G>T (BSCL2)	ENSP00000405265.2:p.Arg7Leu
ENST00000524862.6:c.512G>T (BSCL2)	ENSP00000433888.2:p.Arg171Leu
ENST00000682003.1:n.690G>T (BSCL2)
ENST00000682223.1:c.512G>T (BSCL2)	ENSP00000508140.1:p.Arg171Leu
ENST00000682262.1:c.512G>T (BSCL2)	ENSP00000507103.1:p.Arg171Leu
ENST00000682555.1:c.512G>T (BSCL2)	ENSP00000507814.1:p.Arg171Leu
ENST00000682644.1:n.904G>T (BSCL2)
ENST00000682794.1:n.822G>T (BSCL2)
ENST00000683025.1:c.*159G>T (BSCL2)	ENSP00000507028.1:n.*159G>T
ENST00000683296.1:c.512G>T (BSCL2)	ENSP00000507725.1:p.Arg171Leu
ENST00000683368.1:n.703G>T (BSCL2)
ENST00000683494.1:n.904G>T (BSCL2)
ENST00000683846.1:n.852G>T (BSCL2)
ENST00000683892.1:n.1014G>T (BSCL2)
ENST00000684067.1:c.512G>T (BSCL2)	ENSP00000506799.1:p.Arg171Leu
ENST00000684115.1:n.904G>T (BSCL2)
ENST00000684258.1:n.940G>T (BSCL2)
ENST00000684285.1:c.*19G>T (BSCL2)	ENSP00000507669.1:n.*19G>T
ENST00000684475.1:c.512G>T (BSCL2)	ENSP00000507429.1:p.Arg171Leu
ENST00000684609.1:n.904G>T (BSCL2)
ENST00000684720.1:n.904G>T (BSCL2)
ENST00000360796.10:c.512G>T (BSCL2) MANE Select	ENSP00000354032.5:p.Arg171Leu
ENST00000679883.1:c.512G>T (BSCL2)	ENSP00000505838.1:p.Arg171Leu
ENST00000278893.11:c.320G>T (BSCL2)	ENSP00000278893.7:p.Arg107Leu
ENST00000301781.10:c.512G>T (BSCL2)	ENSP00000301781.5:p.Arg171Leu
ENST00000360796.9:c.512G>T (BSCL2)	ENSP00000354032.5:p.Arg171Leu
ENST00000403550.5:c.320G>T (BSCL2)	ENSP00000385561.1:p.Arg107Leu
ENST00000403734.2:c.*563G>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*563G>T
ENST00000405837.5:c.512G>T (BSCL2)	ENSP00000385332.1:p.Arg171Leu
ENST00000407022.7:c.320G>T (BSCL2)	ENSP00000384080.3:p.Arg107Leu
ENST00000412351.1:n.110G>T (BSCL2)
ENST00000421906.5:c.320G>T (BSCL2)	ENSP00000413209.1:p.Arg107Leu
ENST00000448568.6:c.320G>T (BSCL2)	ENSP00000413340.2:p.Arg107Leu
ENST00000524862.5:c.512G>T (BSCL2)	ENSP00000433888.1:p.Arg171Leu
ENST00000525000.5:c.144G>T (BSCL2)
ENST00000526426.1:n.27G>T (BSCL2)
ENST00000530900.1:n.312G>T (BSCL2)
ENST00000531524.5:c.113G>T (BSCL2)	ENSP00000436026.1:p.Arg38Leu
ENST00000532115.5:n.26G>T (BSCL2)
ENST00000537604.5:n.563G>T (BSCL2)
NM_001122955.3:c.512G>T (BSCL2)	NP_001116427.1:p.Arg171Leu
NM_001130702.2:c.320G>T (BSCL2)	NP_001124174.2:p.Arg107Leu
NM_032667.6:c.320G>T (BSCL2)	NP_116056.3:p.Arg107Leu
NR_037946.1:n.3032G>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1114G>T (BSCL2)
NR_037949.1:n.1114G>T (BSCL2)
NM_001122955.4:c.512G>T (BSCL2) MANE Select	NP_001116427.1:p.Arg171Leu
NM_001386027.1:c.512G>T (BSCL2)	NP_001372956.1:p.Arg171Leu
NM_001386028.1:c.512G>T (BSCL2)	NP_001372957.1:p.Arg171Leu