Canonical Allele Identifier: CA6053486

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• dbSNP Id: rs754043914
• ExAC: 11:62460157 T / G
• gnomAD v2: 11-62460157-T-G
• gnomAD v4: 11-62692685-T-G
• MyVariant Identifiers: chr11:g.62460157T>G (hg19) ; chr11:g.62692685T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692685T>G , CM000673.2:g.62692685T>G	GRCh38
NC_000011.9:g.62460157T>G , CM000673.1:g.62460157T>G	GRCh37
NC_000011.8:g.62216733T>G	NCBI36
NG_008461.1:g.21890A>C
NG_033077.1:g.2215A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.935A>C (BSCL2)
ENST00000449636.6:c.251A>C (BSCL2)	ENSP00000405265.2:p.Tyr84Ser
ENST00000524862.6:c.743A>C (BSCL2)	ENSP00000433888.2:p.Tyr248Ser
ENST00000682003.1:n.809-212A>C (BSCL2)
ENST00000682223.1:c.743A>C (BSCL2)	ENSP00000508140.1:p.Tyr248Ser
ENST00000682262.1:c.631-1264A>C (BSCL2)	ENSP00000507103.1:n.631-1264A>C
ENST00000682555.1:c.661A>C (BSCL2)	ENSP00000507814.1:p.Thr221Pro
ENST00000682644.1:n.1135A>C (BSCL2)
ENST00000682794.1:n.1053A>C (BSCL2)
ENST00000683025.1:c.*390A>C (BSCL2)	ENSP00000507028.1:n.*390A>C
ENST00000683296.1:c.743A>C (BSCL2)	ENSP00000507725.1:p.Tyr248Ser
ENST00000683368.1:n.934A>C (BSCL2)
ENST00000683494.1:n.1135A>C (BSCL2)
ENST00000683846.1:n.1083A>C (BSCL2)
ENST00000683892.1:n.1245A>C (BSCL2)
ENST00000684067.1:c.743A>C (BSCL2)	ENSP00000506799.1:p.Tyr248Ser
ENST00000684115.1:n.1135A>C (BSCL2)
ENST00000684258.1:n.1171A>C (BSCL2)
ENST00000684285.1:c.*250A>C (BSCL2)	ENSP00000507669.1:n.*250A>C
ENST00000684475.1:c.631-212A>C (BSCL2)	ENSP00000507429.1:n.631-212A>C
ENST00000684609.1:n.1135A>C (BSCL2)
ENST00000684720.1:n.1135A>C (BSCL2)
ENST00000360796.10:c.743A>C (BSCL2) MANE Select	ENSP00000354032.5:p.Tyr248Ser
ENST00000679883.1:c.743A>C (BSCL2)	ENSP00000505838.1:p.Tyr248Ser
ENST00000278893.11:c.551A>C (BSCL2)	ENSP00000278893.7:p.Tyr184Ser
ENST00000301781.10:c.688A>C (BSCL2)	ENSP00000301781.5:p.Thr230Pro
ENST00000360796.9:c.743A>C (BSCL2)	ENSP00000354032.5:p.Tyr248Ser
ENST00000403098.6:c.65A>C (BSCL2)	ENSP00000384258.2:p.Tyr22Ser
ENST00000403550.5:c.551A>C (BSCL2)	ENSP00000385561.1:p.Tyr184Ser
ENST00000403734.2:c.*794A>C (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*794A>C
ENST00000405837.5:c.743A>C (BSCL2)	ENSP00000385332.1:p.Tyr248Ser
ENST00000407022.7:c.551A>C (BSCL2)	ENSP00000384080.3:p.Tyr184Ser
ENST00000412351.1:n.341A>C (BSCL2)
ENST00000421906.5:c.551A>C (BSCL2)	ENSP00000413209.1:p.Tyr184Ser
ENST00000448568.6:c.551A>C (BSCL2)	ENSP00000413340.2:p.Tyr184Ser
ENST00000468505.5:n.113A>C (BSCL2)
ENST00000526426.1:n.258A>C (BSCL2)
ENST00000532115.5:n.145-212A>C (BSCL2)
NM_001122955.3:c.743A>C (BSCL2)	NP_001116427.1:p.Tyr248Ser
NM_001130702.2:c.551A>C (BSCL2)	NP_001124174.2:p.Tyr184Ser
NM_032667.6:c.551A>C (BSCL2)	NP_116056.3:p.Tyr184Ser
NR_037946.1:n.3263A>C (HNRNPUL2-BSCL2)
NR_037948.1:n.1345A>C (BSCL2)
NR_037949.1:n.1345A>C (BSCL2)
NM_001122955.4:c.743A>C (BSCL2) MANE Select	NP_001116427.1:p.Tyr248Ser
NM_001386027.1:c.743A>C (BSCL2)	NP_001372956.1:p.Tyr248Ser
NM_001386028.1:c.743A>C (BSCL2)	NP_001372957.1:p.Tyr248Ser