Canonical Allele Identifier: CA474864620

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• gnomAD v4: 11-62692384-A-G
• MyVariant Identifiers: chr11:g.62459856A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692384A>G , CM000673.2:g.62692384A>G	GRCh38
NC_000011.9:g.62459856A>G , CM000673.1:g.62459856A>G	GRCh37
NC_000011.8:g.62216432A>G	NCBI36
NG_008461.1:g.22191T>C
NG_033077.1:g.2516T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.1047T>C (BSCL2)
ENST00000449636.6:c.363T>C (BSCL2)	ENSP00000405265.2:p.Thr121=
ENST00000524862.6:c.855T>C (BSCL2)	ENSP00000433888.2:p.Thr285=
ENST00000682003.1:n.898T>C (BSCL2)
ENST00000682223.1:c.855T>C (BSCL2)	ENSP00000508140.1:p.Thr285=
ENST00000682262.1:c.631-963T>C (BSCL2)	ENSP00000507103.1:n.631-963T>C
ENST00000682555.1:c.773T>C (BSCL2)	ENSP00000507814.1:p.Leu258Pro
ENST00000682644.1:n.1247T>C (BSCL2)
ENST00000682794.1:n.1165T>C (BSCL2)
ENST00000683025.1:c.*502T>C (BSCL2)	ENSP00000507028.1:n.*502T>C
ENST00000683296.1:c.855T>C (BSCL2)	ENSP00000507725.1:p.Thr285=
ENST00000683368.1:n.1046T>C (BSCL2)
ENST00000683494.1:n.1436T>C (BSCL2)
ENST00000683846.1:n.1195T>C (BSCL2)
ENST00000683892.1:n.1357T>C (BSCL2)
ENST00000684067.1:c.855T>C (BSCL2)	ENSP00000506799.1:p.Thr285=
ENST00000684115.1:n.1436T>C (BSCL2)
ENST00000684258.1:n.1283T>C (BSCL2)
ENST00000684285.1:c.*362T>C (BSCL2)	ENSP00000507669.1:n.*362T>C
ENST00000684475.1:c.720T>C (BSCL2)	ENSP00000507429.1:p.Thr240=
ENST00000684609.1:n.1247T>C (BSCL2)
ENST00000684720.1:n.1247T>C (BSCL2)
ENST00000360796.10:c.855T>C (BSCL2) MANE Select	ENSP00000354032.5:p.Thr285=
ENST00000679883.1:c.855T>C (BSCL2)	ENSP00000505838.1:p.Thr285=
ENST00000278893.11:c.663T>C (BSCL2)	ENSP00000278893.7:p.Thr221=
ENST00000301781.10:c.800T>C (BSCL2)	ENSP00000301781.5:p.Leu267Pro
ENST00000360796.9:c.855T>C (BSCL2)	ENSP00000354032.5:p.Thr285=
ENST00000403098.6:c.177T>C (BSCL2)	ENSP00000384258.2:p.Thr59=
ENST00000403550.5:c.663T>C (BSCL2)	ENSP00000385561.1:p.Thr221=
ENST00000403734.2:c.*906T>C (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*906T>C
ENST00000405837.5:c.855T>C (BSCL2)	ENSP00000385332.1:p.Thr285=
ENST00000407022.7:c.663T>C (BSCL2)	ENSP00000384080.3:p.Thr221=
ENST00000412351.1:n.453T>C (BSCL2)
ENST00000421906.5:c.663T>C (BSCL2)	ENSP00000413209.1:p.Thr221=
ENST00000448568.6:c.663T>C (BSCL2)	ENSP00000413340.2:p.Thr221=
ENST00000468505.5:n.225T>C (BSCL2)
ENST00000532115.5:n.234T>C (BSCL2)
NM_001122955.3:c.855T>C (BSCL2)	NP_001116427.1:p.Thr285=
NM_001130702.2:c.663T>C (BSCL2)	NP_001124174.2:p.Thr221=
NM_032667.6:c.663T>C (BSCL2)	NP_116056.3:p.Thr221=
NR_037946.1:n.3375T>C (HNRNPUL2-BSCL2)
NR_037948.1:n.1457T>C (BSCL2)
NR_037949.1:n.1457T>C (BSCL2)
NM_001122955.4:c.855T>C (BSCL2) MANE Select	NP_001116427.1:p.Thr285=
NM_001386027.1:c.855T>C (BSCL2)	NP_001372956.1:p.Thr285=
NM_001386028.1:c.855T>C (BSCL2)	NP_001372957.1:p.Thr285=