Canonical Allele Identifier: CA474864665

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 700608
• ClinVar RCV Id: RCV000868858
• dbSNP Id: rs1188344099
• gnomAD v2: 11-62459868-G-A
• gnomAD v3: 11-62692396-G-A
• gnomAD v4: 11-62692396-G-A
• MyVariant Identifiers: chr11:g.62459868G>A (hg19) ; chr11:g.62692396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692396G>A , CM000673.2:g.62692396G>A	GRCh38
NC_000011.9:g.62459868G>A , CM000673.1:g.62459868G>A	GRCh37
NC_000011.8:g.62216444G>A	NCBI36
NG_008461.1:g.22179C>T
NG_033077.1:g.2504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1035C>T (BSCL2)
ENST00000449636.6:c.351C>T (BSCL2)	ENSP00000405265.2:p.His117=
ENST00000524862.6:c.843C>T (BSCL2)	ENSP00000433888.2:p.His281=
ENST00000682003.1:n.886C>T (BSCL2)
ENST00000682223.1:c.843C>T (BSCL2)	ENSP00000508140.1:p.His281=
ENST00000682262.1:c.631-975C>T (BSCL2)	ENSP00000507103.1:n.631-975C>T
ENST00000682555.1:c.761C>T (BSCL2)	ENSP00000507814.1:p.Thr254Met
ENST00000682644.1:n.1235C>T (BSCL2)
ENST00000682794.1:n.1153C>T (BSCL2)
ENST00000683025.1:c.*490C>T (BSCL2)	ENSP00000507028.1:n.*490C>T
ENST00000683296.1:c.843C>T (BSCL2)	ENSP00000507725.1:p.His281=
ENST00000683368.1:n.1034C>T (BSCL2)
ENST00000683494.1:n.1424C>T (BSCL2)
ENST00000683846.1:n.1183C>T (BSCL2)
ENST00000683892.1:n.1345C>T (BSCL2)
ENST00000684067.1:c.843C>T (BSCL2)	ENSP00000506799.1:p.His281=
ENST00000684115.1:n.1424C>T (BSCL2)
ENST00000684258.1:n.1271C>T (BSCL2)
ENST00000684285.1:c.*350C>T (BSCL2)	ENSP00000507669.1:n.*350C>T
ENST00000684475.1:c.708C>T (BSCL2)	ENSP00000507429.1:p.His236=
ENST00000684609.1:n.1235C>T (BSCL2)
ENST00000684720.1:n.1235C>T (BSCL2)
ENST00000360796.10:c.843C>T (BSCL2) MANE Select	ENSP00000354032.5:p.His281=
ENST00000679883.1:c.843C>T (BSCL2)	ENSP00000505838.1:p.His281=
ENST00000278893.11:c.651C>T (BSCL2)	ENSP00000278893.7:p.His217=
ENST00000301781.10:c.788C>T (BSCL2)	ENSP00000301781.5:p.Thr263Met
ENST00000360796.9:c.843C>T (BSCL2)	ENSP00000354032.5:p.His281=
ENST00000403098.6:c.165C>T (BSCL2)	ENSP00000384258.2:p.His55=
ENST00000403550.5:c.651C>T (BSCL2)	ENSP00000385561.1:p.His217=
ENST00000403734.2:c.*894C>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*894C>T
ENST00000405837.5:c.843C>T (BSCL2)	ENSP00000385332.1:p.His281=
ENST00000407022.7:c.651C>T (BSCL2)	ENSP00000384080.3:p.His217=
ENST00000412351.1:n.441C>T (BSCL2)
ENST00000421906.5:c.651C>T (BSCL2)	ENSP00000413209.1:p.His217=
ENST00000448568.6:c.651C>T (BSCL2)	ENSP00000413340.2:p.His217=
ENST00000468505.5:n.213C>T (BSCL2)
ENST00000532115.5:n.222C>T (BSCL2)
NM_001122955.3:c.843C>T (BSCL2)	NP_001116427.1:p.His281=
NM_001130702.2:c.651C>T (BSCL2)	NP_001124174.2:p.His217=
NM_032667.6:c.651C>T (BSCL2)	NP_116056.3:p.His217=
NR_037946.1:n.3363C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1445C>T (BSCL2)
NR_037949.1:n.1445C>T (BSCL2)
NM_001122955.4:c.843C>T (BSCL2) MANE Select	NP_001116427.1:p.His281=
NM_001386027.1:c.843C>T (BSCL2)	NP_001372956.1:p.His281=
NM_001386028.1:c.843C>T (BSCL2)	NP_001372957.1:p.His281=