Canonical Allele Identifier: CA380962810

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• dbSNP Id: rs1423615035
• gnomAD v2: 11-62460185-G-C
• gnomAD v4: 11-62692713-G-C
• MyVariant Identifiers: chr11:g.62460185G>C (hg19) ; chr11:g.62692713G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692713G>C , CM000673.2:g.62692713G>C	GRCh38
NC_000011.9:g.62460185G>C , CM000673.1:g.62460185G>C	GRCh37
NC_000011.8:g.62216761G>C	NCBI36
NG_008461.1:g.21862C>G
NG_033077.1:g.2187C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.907C>G (BSCL2)
ENST00000449636.6:c.223C>G (BSCL2)	ENSP00000405265.2:p.Gln75Glu
ENST00000524862.6:c.715C>G (BSCL2)	ENSP00000433888.2:p.Gln239Glu
ENST00000682003.1:n.809-240C>G (BSCL2)
ENST00000682223.1:c.715C>G (BSCL2)	ENSP00000508140.1:p.Gln239Glu
ENST00000682262.1:c.631-1292C>G (BSCL2)	ENSP00000507103.1:n.631-1292C>G
ENST00000682555.1:c.633C>G (BSCL2)	ENSP00000507814.1:p.Ser211Arg
ENST00000682644.1:n.1107C>G (BSCL2)
ENST00000682794.1:n.1025C>G (BSCL2)
ENST00000683025.1:c.*362C>G (BSCL2)	ENSP00000507028.1:n.*362C>G
ENST00000683296.1:c.715C>G (BSCL2)	ENSP00000507725.1:p.Gln239Glu
ENST00000683368.1:n.906C>G (BSCL2)
ENST00000683494.1:n.1107C>G (BSCL2)
ENST00000683846.1:n.1055C>G (BSCL2)
ENST00000683892.1:n.1217C>G (BSCL2)
ENST00000684067.1:c.715C>G (BSCL2)	ENSP00000506799.1:p.Gln239Glu
ENST00000684115.1:n.1107C>G (BSCL2)
ENST00000684258.1:n.1143C>G (BSCL2)
ENST00000684285.1:c.*222C>G (BSCL2)	ENSP00000507669.1:n.*222C>G
ENST00000684475.1:c.631-240C>G (BSCL2)	ENSP00000507429.1:n.631-240C>G
ENST00000684609.1:n.1107C>G (BSCL2)
ENST00000684720.1:n.1107C>G (BSCL2)
ENST00000360796.10:c.715C>G (BSCL2) MANE Select	ENSP00000354032.5:p.Gln239Glu
ENST00000679883.1:c.715C>G (BSCL2)	ENSP00000505838.1:p.Gln239Glu
ENST00000278893.11:c.523C>G (BSCL2)	ENSP00000278893.7:p.Gln175Glu
ENST00000301781.10:c.660C>G (BSCL2)	ENSP00000301781.5:p.Ser220Arg
ENST00000360796.9:c.715C>G (BSCL2)	ENSP00000354032.5:p.Gln239Glu
ENST00000403098.6:c.37C>G (BSCL2)	ENSP00000384258.2:p.Gln13Glu
ENST00000403550.5:c.523C>G (BSCL2)	ENSP00000385561.1:p.Gln175Glu
ENST00000403734.2:c.*766C>G (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*766C>G
ENST00000405837.5:c.715C>G (BSCL2)	ENSP00000385332.1:p.Gln239Glu
ENST00000407022.7:c.523C>G (BSCL2)	ENSP00000384080.3:p.Gln175Glu
ENST00000412351.1:n.313C>G (BSCL2)
ENST00000421906.5:c.523C>G (BSCL2)	ENSP00000413209.1:p.Gln175Glu
ENST00000448568.6:c.523C>G (BSCL2)	ENSP00000413340.2:p.Gln175Glu
ENST00000468505.5:n.85C>G (BSCL2)
ENST00000526426.1:n.230C>G (BSCL2)
ENST00000531524.5:c.316C>G (BSCL2)	ENSP00000436026.1:p.Gln106Glu
ENST00000532115.5:n.145-240C>G (BSCL2)
NM_001122955.3:c.715C>G (BSCL2)	NP_001116427.1:p.Gln239Glu
NM_001130702.2:c.523C>G (BSCL2)	NP_001124174.2:p.Gln175Glu
NM_032667.6:c.523C>G (BSCL2)	NP_116056.3:p.Gln175Glu
NR_037946.1:n.3235C>G (HNRNPUL2-BSCL2)
NR_037948.1:n.1317C>G (BSCL2)
NR_037949.1:n.1317C>G (BSCL2)
NM_001122955.4:c.715C>G (BSCL2) MANE Select	NP_001116427.1:p.Gln239Glu
NM_001386027.1:c.715C>G (BSCL2)	NP_001372956.1:p.Gln239Glu
NM_001386028.1:c.715C>G (BSCL2)	NP_001372957.1:p.Gln239Glu