Canonical Allele Identifier: CA6053402

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 305175
• ClinVar RCV Id: RCV000351350 ; RCV000389555 ; RCV000865057 ; RCV000614057 ; RCV001089354 ; RCV002392840
• dbSNP Id: rs200300686
• ExAC: 11:62458818 G / A
• gnomAD v2: 11-62458818-G-A
• gnomAD v3: 11-62691346-G-A
• gnomAD v4: 11-62691346-G-A
• MyVariant Identifiers: chr11:g.62458818G>A (hg19) ; chr11:g.62691346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62691346G>A , CM000673.2:g.62691346G>A	GRCh38
NC_000011.9:g.62458818G>A , CM000673.1:g.62458818G>A	GRCh37
NC_000011.8:g.62215394G>A	NCBI36
NG_008461.1:g.23229C>T
NG_033077.1:g.3554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1131C>T (BSCL2)
ENST00000449636.6:c.447C>T (BSCL2)	ENSP00000405265.2:p.Ile149=
ENST00000463679.6:n.584C>T (BSCL2)
ENST00000524862.6:c.939C>T (BSCL2)	ENSP00000433888.2:p.Ile313=
ENST00000682003.1:n.982C>T (BSCL2)
ENST00000682223.1:c.939C>T (BSCL2)	ENSP00000508140.1:p.Ile313=
ENST00000682262.1:c.706C>T (BSCL2)	ENSP00000507103.1:p.Arg236Cys
ENST00000682555.1:c.*50C>T (BSCL2)	ENSP00000507814.1:n.*50C>T
ENST00000682644.1:n.1331C>T (BSCL2)
ENST00000682794.1:n.1249C>T (BSCL2)
ENST00000683025.1:c.*586C>T (BSCL2)	ENSP00000507028.1:n.*586C>T
ENST00000683193.1:n.521C>T (BSCL2)
ENST00000683296.1:c.939C>T (BSCL2)	ENSP00000507725.1:p.Ile313=
ENST00000683368.1:n.1130C>T (BSCL2)
ENST00000683494.1:n.2474C>T (BSCL2)
ENST00000683846.1:n.1279C>T (BSCL2)
ENST00000683892.1:n.1441C>T (BSCL2)
ENST00000684067.1:c.939C>T (BSCL2)	ENSP00000506799.1:p.Ile313=
ENST00000684115.1:n.1520C>T (BSCL2)
ENST00000684258.1:n.1367C>T (BSCL2)
ENST00000684285.1:c.*446C>T (BSCL2)	ENSP00000507669.1:n.*446C>T
ENST00000684475.1:c.804C>T (BSCL2)	ENSP00000507429.1:p.Ile268=
ENST00000684609.1:n.1331C>T (BSCL2)
ENST00000684720.1:n.2285C>T (BSCL2)
ENST00000360796.10:c.939C>T (BSCL2) MANE Select	ENSP00000354032.5:p.Ile313=
ENST00000679883.1:c.939C>T (BSCL2)	ENSP00000505838.1:p.Ile313=
ENST00000278893.11:c.672-205C>T (BSCL2)	ENSP00000278893.7:n.672-205C>T
ENST00000301781.10:c.*50C>T (BSCL2)	ENSP00000301781.5:n.*50C>T
ENST00000360796.9:c.939C>T (BSCL2)	ENSP00000354032.5:p.Ile313=
ENST00000403098.6:c.186-925C>T (BSCL2)	ENSP00000384258.2:n.186-925C>T
ENST00000403550.5:c.747C>T (BSCL2)	ENSP00000385561.1:p.Ile249=
ENST00000403734.2:c.*990C>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*990C>T
ENST00000405837.5:c.939C>T (BSCL2)	ENSP00000385332.1:p.Ile313=
ENST00000407022.7:c.747C>T (BSCL2)	ENSP00000384080.3:p.Ile249=
ENST00000421906.5:c.747C>T (BSCL2)	ENSP00000413209.1:p.Ile249=
ENST00000468505.5:n.309C>T (BSCL2)
ENST00000532115.5:n.318C>T (BSCL2)
NM_001122955.3:c.939C>T (BSCL2)	NP_001116427.1:p.Ile313=
NM_001130702.2:c.672-205C>T (BSCL2)	NP_001124174.2:n.672-205C>T
NM_032667.6:c.747C>T (BSCL2)	NP_116056.3:p.Ile249=
NR_037946.1:n.3459C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1541C>T (BSCL2)
NR_037949.1:n.1541C>T (BSCL2)
NM_001122955.4:c.939C>T (BSCL2) MANE Select	NP_001116427.1:p.Ile313=
NM_001386027.1:c.939C>T (BSCL2)	NP_001372956.1:p.Ile313=
NM_001386028.1:c.939C>T (BSCL2)	NP_001372957.1:p.Ile313=