Canonical Allele Identifier: CA6053488

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 549715
• ClinVar RCV Id: RCV000754918
• dbSNP Id: rs747297291
• ExAC: 11:62460162 T / TCGG
• gnomAD v2: 11-62460162-T-TCGG
• MyVariant Identifiers: chr11:g.62460162_62460163insCGG (hg19) ; chr11:g.62692690_62692691insCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692690_62692691insCGG , CM000673.2:g.62692690_62692691insCGG	GRCh38
NC_000011.9:g.62460162_62460163insCGG , CM000673.1:g.62460162_62460163insCGG	GRCh37
NC_000011.8:g.62216738_62216739insCGG	NCBI36
NG_008461.1:g.21884_21885insCCG
NG_033077.1:g.2209_2210insCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.929_930insCCG (BSCL2)
ENST00000449636.6:c.245_246insCCG (BSCL2)	ENSP00000405265.2:p.Glu82delinsAspArg
ENST00000524862.6:c.737_738insCCG (BSCL2)	ENSP00000433888.2:p.Glu246delinsAspArg
ENST00000682003.1:n.809-218_809-217insCCG (BSCL2)
ENST00000682223.1:c.737_738insCCG (BSCL2)	ENSP00000508140.1:p.Glu246delinsAspArg
ENST00000682262.1:c.631-1270_631-1269insCCG (BSCL2)	ENSP00000507103.1:n.631-1270_631-1269insCCG
ENST00000682555.1:c.655_656insCCG (BSCL2)	ENSP00000507814.1:p.Asn219delinsThrAsp
ENST00000682644.1:n.1129_1130insCCG (BSCL2)
ENST00000682794.1:n.1047_1048insCCG (BSCL2)
ENST00000683025.1:c.*384_*385insCCG (BSCL2)	ENSP00000507028.1:n.*384_*385insCCG
ENST00000683296.1:c.737_738insCCG (BSCL2)	ENSP00000507725.1:p.Glu246delinsAspArg
ENST00000683368.1:n.928_929insCCG (BSCL2)
ENST00000683494.1:n.1129_1130insCCG (BSCL2)
ENST00000683846.1:n.1077_1078insCCG (BSCL2)
ENST00000683892.1:n.1239_1240insCCG (BSCL2)
ENST00000684067.1:c.737_738insCCG (BSCL2)	ENSP00000506799.1:p.Glu246delinsAspArg
ENST00000684115.1:n.1129_1130insCCG (BSCL2)
ENST00000684258.1:n.1165_1166insCCG (BSCL2)
ENST00000684285.1:c.*244_*245insCCG (BSCL2)	ENSP00000507669.1:n.*244_*245insCCG
ENST00000684475.1:c.631-218_631-217insCCG (BSCL2)	ENSP00000507429.1:n.631-218_631-217insCCG
ENST00000684609.1:n.1129_1130insCCG (BSCL2)
ENST00000684720.1:n.1129_1130insCCG (BSCL2)
ENST00000360796.10:c.737_738insCCG (BSCL2) MANE Select	ENSP00000354032.5:p.Glu246delinsAspArg
ENST00000679883.1:c.737_738insCCG (BSCL2)	ENSP00000505838.1:p.Glu246delinsAspArg
ENST00000278893.11:c.545_546insCCG (BSCL2)	ENSP00000278893.7:p.Glu182delinsAspArg
ENST00000301781.10:c.682_683insCCG (BSCL2)	ENSP00000301781.5:p.Asn228delinsThrAsp
ENST00000360796.9:c.737_738insCCG (BSCL2)	ENSP00000354032.5:p.Glu246delinsAspArg
ENST00000403098.6:c.59_60insCCG (BSCL2)	ENSP00000384258.2:p.Glu20delinsAspArg
ENST00000403550.5:c.545_546insCCG (BSCL2)	ENSP00000385561.1:p.Glu182delinsAspArg
ENST00000403734.2:c.*788_*789insCCG (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*788_*789insCCG
ENST00000405837.5:c.737_738insCCG (BSCL2)	ENSP00000385332.1:p.Glu246delinsAspArg
ENST00000407022.7:c.545_546insCCG (BSCL2)	ENSP00000384080.3:p.Glu182delinsAspArg
ENST00000412351.1:n.335_336insCCG (BSCL2)
ENST00000421906.5:c.545_546insCCG (BSCL2)	ENSP00000413209.1:p.Glu182delinsAspArg
ENST00000448568.6:c.545_546insCCG (BSCL2)	ENSP00000413340.2:p.Glu182delinsAspArg
ENST00000468505.5:n.107_108insCCG (BSCL2)
ENST00000526426.1:n.252_253insCCG (BSCL2)
ENST00000532115.5:n.145-218_145-217insCCG (BSCL2)
NM_001122955.3:c.737_738insCCG (BSCL2)	NP_001116427.1:p.Glu246delinsAspArg
NM_001130702.2:c.545_546insCCG (BSCL2)	NP_001124174.2:p.Glu182delinsAspArg
NM_032667.6:c.545_546insCCG (BSCL2)	NP_116056.3:p.Glu182delinsAspArg
NR_037946.1:n.3257_3258insCCG (HNRNPUL2-BSCL2)
NR_037948.1:n.1339_1340insCCG (BSCL2)
NR_037949.1:n.1339_1340insCCG (BSCL2)
NM_001122955.4:c.737_738insCCG (BSCL2) MANE Select	NP_001116427.1:p.Glu246delinsAspArg
NM_001386027.1:c.737_738insCCG (BSCL2)	NP_001372956.1:p.Glu246delinsAspArg
NM_001386028.1:c.737_738insCCG (BSCL2)	NP_001372957.1:p.Glu246delinsAspArg