Canonical Allele Identifier: CA349931

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 220174
• ClinVar RCV Id: RCV000205813 ; RCV002444827 ; RCV003441784 ; RCV003448287
• dbSNP Id: rs749917957
• gnomAD v3: 11-62691098-C-T
• gnomAD v4: 11-62691098-C-T
• MyVariant Identifiers: chr11:g.62458570C>T (hg19) ; chr11:g.62691098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62691098C>T , CM000673.2:g.62691098C>T	GRCh38
NC_000011.9:g.62458570C>T , CM000673.1:g.62458570C>T	GRCh37
NC_000011.8:g.62215146C>T	NCBI36
NG_008461.1:g.23477G>A
NG_033077.1:g.3802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.1379G>A (BSCL2)
ENST00000449636.6:c.557G>A (BSCL2)	ENSP00000405265.2:p.Arg186Gln
ENST00000463679.6:n.832G>A (BSCL2)
ENST00000524862.6:c.1049G>A (BSCL2)	ENSP00000433888.2:p.Arg350Gln
ENST00000682003.1:n.1230G>A (BSCL2)
ENST00000682223.1:c.1049G>A (BSCL2)	ENSP00000508140.1:p.Arg350Gln
ENST00000682262.1:c.*111G>A (BSCL2)	ENSP00000507103.1:n.*111G>A
ENST00000682555.1:c.*160G>A (BSCL2)	ENSP00000507814.1:n.*160G>A
ENST00000682644.1:n.1579G>A (BSCL2)
ENST00000682794.1:n.1359G>A (BSCL2)
ENST00000683025.1:c.*834G>A (BSCL2)	ENSP00000507028.1:n.*834G>A
ENST00000683193.1:n.769G>A (BSCL2)
ENST00000683296.1:c.1049G>A (BSCL2)	ENSP00000507725.1:p.Arg350Gln
ENST00000683368.1:n.1240G>A (BSCL2)
ENST00000683494.1:n.2722G>A (BSCL2)
ENST00000683846.1:n.1389G>A (BSCL2)
ENST00000683892.1:n.1689G>A (BSCL2)
ENST00000684067.1:c.1049G>A (BSCL2)	ENSP00000506799.1:p.Arg350Gln
ENST00000684115.1:n.1630G>A (BSCL2)
ENST00000684258.1:n.1615G>A (BSCL2)
ENST00000684285.1:c.*556G>A (BSCL2)	ENSP00000507669.1:n.*556G>A
ENST00000684475.1:c.914G>A (BSCL2)	ENSP00000507429.1:p.Arg305Gln
ENST00000684609.1:n.1579G>A (BSCL2)
ENST00000684720.1:n.2533G>A (BSCL2)
ENST00000360796.10:c.1049G>A (BSCL2) MANE Select	ENSP00000354032.5:p.Arg350Gln
ENST00000679883.1:c.1049G>A (BSCL2)	ENSP00000505838.1:p.Arg350Gln
ENST00000278893.11:c.715G>A (BSCL2)	ENSP00000278893.7:p.Glu239Lys
ENST00000301781.10:c.*160G>A (BSCL2)	ENSP00000301781.5:n.*160G>A
ENST00000360796.9:c.1049G>A (BSCL2)	ENSP00000354032.5:p.Arg350Gln
ENST00000403098.6:c.186-677G>A (BSCL2)	ENSP00000384258.2:n.186-677G>A
ENST00000403550.5:c.857G>A (BSCL2)	ENSP00000385561.1:p.Arg286Gln
ENST00000403734.2:c.*1100G>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*1100G>A
ENST00000405837.5:c.1049G>A (BSCL2)	ENSP00000385332.1:p.Arg350Gln
ENST00000407022.7:c.857G>A (BSCL2)	ENSP00000384080.3:p.Arg286Gln
ENST00000421906.5:c.857G>A (BSCL2)	ENSP00000413209.1:p.Arg286Gln
ENST00000449636.5:c.104G>A (BSCL2)	ENSP00000405265.1:p.Arg35Gln
ENST00000463679.5:n.245G>A (BSCL2)
ENST00000468505.5:n.419G>A (BSCL2)
ENST00000470529.5:n.81G>A (BSCL2)
NM_001122955.3:c.1049G>A (BSCL2)	NP_001116427.1:p.Arg350Gln
NM_001130702.2:c.715G>A (BSCL2)	NP_001124174.2:p.Glu239Lys
NM_032667.6:c.857G>A (BSCL2)	NP_116056.3:p.Arg286Gln
NR_037946.1:n.3569G>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1651G>A (BSCL2)
NR_037949.1:n.1651G>A (BSCL2)
NM_001122955.4:c.1049G>A (BSCL2) MANE Select	NP_001116427.1:p.Arg350Gln
NM_001386027.1:c.1049G>A (BSCL2)	NP_001372956.1:p.Arg350Gln
NM_001386028.1:c.1049G>A (BSCL2)	NP_001372957.1:p.Arg350Gln