Canonical Allele Identifier: CA474864745

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• gnomAD v4: 11-62692405-G-T
• MyVariant Identifiers: chr11:g.62459877G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692405G>T , CM000673.2:g.62692405G>T	GRCh38
NC_000011.9:g.62459877G>T , CM000673.1:g.62459877G>T	GRCh37
NC_000011.8:g.62216453G>T	NCBI36
NG_008461.1:g.22170C>A
NG_033077.1:g.2495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1026C>A (BSCL2)
ENST00000449636.6:c.342C>A (BSCL2)	ENSP00000405265.2:p.Leu114=
ENST00000524862.6:c.834C>A (BSCL2)	ENSP00000433888.2:p.Leu278=
ENST00000682003.1:n.877C>A (BSCL2)
ENST00000682223.1:c.834C>A (BSCL2)	ENSP00000508140.1:p.Leu278=
ENST00000682262.1:c.631-984C>A (BSCL2)	ENSP00000507103.1:n.631-984C>A
ENST00000682555.1:c.752C>A (BSCL2)	ENSP00000507814.1:p.Ser251Tyr
ENST00000682644.1:n.1226C>A (BSCL2)
ENST00000682794.1:n.1144C>A (BSCL2)
ENST00000683025.1:c.*481C>A (BSCL2)	ENSP00000507028.1:n.*481C>A
ENST00000683296.1:c.834C>A (BSCL2)	ENSP00000507725.1:p.Leu278=
ENST00000683368.1:n.1025C>A (BSCL2)
ENST00000683494.1:n.1415C>A (BSCL2)
ENST00000683846.1:n.1174C>A (BSCL2)
ENST00000683892.1:n.1336C>A (BSCL2)
ENST00000684067.1:c.834C>A (BSCL2)	ENSP00000506799.1:p.Leu278=
ENST00000684115.1:n.1415C>A (BSCL2)
ENST00000684258.1:n.1262C>A (BSCL2)
ENST00000684285.1:c.*341C>A (BSCL2)	ENSP00000507669.1:n.*341C>A
ENST00000684475.1:c.699C>A (BSCL2)	ENSP00000507429.1:p.Leu233=
ENST00000684609.1:n.1226C>A (BSCL2)
ENST00000684720.1:n.1226C>A (BSCL2)
ENST00000360796.10:c.834C>A (BSCL2) MANE Select	ENSP00000354032.5:p.Leu278=
ENST00000679883.1:c.834C>A (BSCL2)	ENSP00000505838.1:p.Leu278=
ENST00000278893.11:c.642C>A (BSCL2)	ENSP00000278893.7:p.Leu214=
ENST00000301781.10:c.779C>A (BSCL2)	ENSP00000301781.5:p.Ser260Tyr
ENST00000360796.9:c.834C>A (BSCL2)	ENSP00000354032.5:p.Leu278=
ENST00000403098.6:c.156C>A (BSCL2)	ENSP00000384258.2:p.Leu52=
ENST00000403550.5:c.642C>A (BSCL2)	ENSP00000385561.1:p.Leu214=
ENST00000403734.2:c.*885C>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*885C>A
ENST00000405837.5:c.834C>A (BSCL2)	ENSP00000385332.1:p.Leu278=
ENST00000407022.7:c.642C>A (BSCL2)	ENSP00000384080.3:p.Leu214=
ENST00000412351.1:n.432C>A (BSCL2)
ENST00000421906.5:c.642C>A (BSCL2)	ENSP00000413209.1:p.Leu214=
ENST00000448568.6:c.642C>A (BSCL2)	ENSP00000413340.2:p.Leu214=
ENST00000468505.5:n.204C>A (BSCL2)
ENST00000532115.5:n.213C>A (BSCL2)
NM_001122955.3:c.834C>A (BSCL2)	NP_001116427.1:p.Leu278=
NM_001130702.2:c.642C>A (BSCL2)	NP_001124174.2:p.Leu214=
NM_032667.6:c.642C>A (BSCL2)	NP_116056.3:p.Leu214=
NR_037946.1:n.3354C>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1436C>A (BSCL2)
NR_037949.1:n.1436C>A (BSCL2)
NM_001122955.4:c.834C>A (BSCL2) MANE Select	NP_001116427.1:p.Leu278=
NM_001386027.1:c.834C>A (BSCL2)	NP_001372956.1:p.Leu278=
NM_001386028.1:c.834C>A (BSCL2)	NP_001372957.1:p.Leu278=