Canonical Allele Identifier: CA380962568

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 2698778
• ClinVar RCV Id: RCV003582211
• MyVariant Identifiers: chr11:g.62460152C>T (hg19) ; chr11:g.62692680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692680C>T , CM000673.2:g.62692680C>T	GRCh38
NC_000011.9:g.62460152C>T , CM000673.1:g.62460152C>T	GRCh37
NC_000011.8:g.62216728C>T	NCBI36
NG_008461.1:g.21895G>A
NG_033077.1:g.2220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.940G>A (BSCL2)
ENST00000449636.6:c.256G>A (BSCL2)	ENSP00000405265.2:p.Asp86Asn
ENST00000524862.6:c.748G>A (BSCL2)	ENSP00000433888.2:p.Asp250Asn
ENST00000682003.1:n.809-207G>A (BSCL2)
ENST00000682223.1:c.748G>A (BSCL2)	ENSP00000508140.1:p.Asp250Asn
ENST00000682262.1:c.631-1259G>A (BSCL2)	ENSP00000507103.1:n.631-1259G>A
ENST00000682555.1:c.666G>A (BSCL2)	ENSP00000507814.1:p.Gln222=
ENST00000682644.1:n.1140G>A (BSCL2)
ENST00000682794.1:n.1058G>A (BSCL2)
ENST00000683025.1:c.*395G>A (BSCL2)	ENSP00000507028.1:n.*395G>A
ENST00000683296.1:c.748G>A (BSCL2)	ENSP00000507725.1:p.Asp250Asn
ENST00000683368.1:n.939G>A (BSCL2)
ENST00000683494.1:n.1140G>A (BSCL2)
ENST00000683846.1:n.1088G>A (BSCL2)
ENST00000683892.1:n.1250G>A (BSCL2)
ENST00000684067.1:c.748G>A (BSCL2)	ENSP00000506799.1:p.Asp250Asn
ENST00000684115.1:n.1140G>A (BSCL2)
ENST00000684258.1:n.1176G>A (BSCL2)
ENST00000684285.1:c.*255G>A (BSCL2)	ENSP00000507669.1:n.*255G>A
ENST00000684475.1:c.631-207G>A (BSCL2)	ENSP00000507429.1:n.631-207G>A
ENST00000684609.1:n.1140G>A (BSCL2)
ENST00000684720.1:n.1140G>A (BSCL2)
ENST00000360796.10:c.748G>A (BSCL2) MANE Select	ENSP00000354032.5:p.Asp250Asn
ENST00000679883.1:c.748G>A (BSCL2)	ENSP00000505838.1:p.Asp250Asn
ENST00000278893.11:c.556G>A (BSCL2)	ENSP00000278893.7:p.Asp186Asn
ENST00000301781.10:c.693G>A (BSCL2)	ENSP00000301781.5:p.Gln231=
ENST00000360796.9:c.748G>A (BSCL2)	ENSP00000354032.5:p.Asp250Asn
ENST00000403098.6:c.70G>A (BSCL2)	ENSP00000384258.2:p.Asp24Asn
ENST00000403550.5:c.556G>A (BSCL2)	ENSP00000385561.1:p.Asp186Asn
ENST00000403734.2:c.*799G>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*799G>A
ENST00000405837.5:c.748G>A (BSCL2)	ENSP00000385332.1:p.Asp250Asn
ENST00000407022.7:c.556G>A (BSCL2)	ENSP00000384080.3:p.Asp186Asn
ENST00000412351.1:n.346G>A (BSCL2)
ENST00000421906.5:c.556G>A (BSCL2)	ENSP00000413209.1:p.Asp186Asn
ENST00000448568.6:c.556G>A (BSCL2)	ENSP00000413340.2:p.Asp186Asn
ENST00000468505.5:n.118G>A (BSCL2)
ENST00000526426.1:n.263G>A (BSCL2)
ENST00000532115.5:n.145-207G>A (BSCL2)
NM_001122955.3:c.748G>A (BSCL2)	NP_001116427.1:p.Asp250Asn
NM_001130702.2:c.556G>A (BSCL2)	NP_001124174.2:p.Asp186Asn
NM_032667.6:c.556G>A (BSCL2)	NP_116056.3:p.Asp186Asn
NR_037946.1:n.3268G>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1350G>A (BSCL2)
NR_037949.1:n.1350G>A (BSCL2)
NM_001122955.4:c.748G>A (BSCL2) MANE Select	NP_001116427.1:p.Asp250Asn
NM_001386027.1:c.748G>A (BSCL2)	NP_001372956.1:p.Asp250Asn
NM_001386028.1:c.748G>A (BSCL2)	NP_001372957.1:p.Asp250Asn