Canonical Allele Identifier: CA10582927

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 241724
• ClinVar RCV Id: RCV000228112
• dbSNP Id: rs878855171
• gnomAD v2: 11-62462165-G-A
• gnomAD v3: 11-62694693-G-A
• gnomAD v4: 11-62694693-G-A
• COSMIC: COSM5093614
• MyVariant Identifiers: chr11:g.62462165G>A (hg19) ; chr11:g.62694693G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62694693G>A , CM000673.2:g.62694693G>A	GRCh38
NC_000011.9:g.62462165G>A , CM000673.1:g.62462165G>A	GRCh37
NC_000011.8:g.62218741G>A	NCBI36
NG_008461.1:g.19882C>T
NG_033077.1:g.207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.697C>T (BSCL2)
ENST00000449636.6:c.13C>T (BSCL2)	ENSP00000405265.2:p.Pro5Ser
ENST00000524862.6:c.505C>T (BSCL2)	ENSP00000433888.2:p.Pro169Ser
ENST00000682003.1:n.683C>T (BSCL2)
ENST00000682223.1:c.505C>T (BSCL2)	ENSP00000508140.1:p.Pro169Ser
ENST00000682262.1:c.505C>T (BSCL2)	ENSP00000507103.1:p.Pro169Ser
ENST00000682555.1:c.505C>T (BSCL2)	ENSP00000507814.1:p.Pro169Ser
ENST00000682644.1:n.897C>T (BSCL2)
ENST00000682794.1:n.815C>T (BSCL2)
ENST00000683025.1:c.*152C>T (BSCL2)	ENSP00000507028.1:n.*152C>T
ENST00000683296.1:c.505C>T (BSCL2)	ENSP00000507725.1:p.Pro169Ser
ENST00000683368.1:n.696C>T (BSCL2)
ENST00000683494.1:n.897C>T (BSCL2)
ENST00000683846.1:n.845C>T (BSCL2)
ENST00000683892.1:n.1007C>T (BSCL2)
ENST00000684067.1:c.505C>T (BSCL2)	ENSP00000506799.1:p.Pro169Ser
ENST00000684115.1:n.897C>T (BSCL2)
ENST00000684258.1:n.933C>T (BSCL2)
ENST00000684285.1:c.*12C>T (BSCL2)	ENSP00000507669.1:n.*12C>T
ENST00000684475.1:c.505C>T (BSCL2)	ENSP00000507429.1:p.Pro169Ser
ENST00000684609.1:n.897C>T (BSCL2)
ENST00000684720.1:n.897C>T (BSCL2)
ENST00000360796.10:c.505C>T (BSCL2) MANE Select	ENSP00000354032.5:p.Pro169Ser
ENST00000679883.1:c.505C>T (BSCL2)	ENSP00000505838.1:p.Pro169Ser
ENST00000278893.11:c.313C>T (BSCL2)	ENSP00000278893.7:p.Pro105Ser
ENST00000301781.10:c.505C>T (BSCL2)	ENSP00000301781.5:p.Pro169Ser
ENST00000360796.9:c.505C>T (BSCL2)	ENSP00000354032.5:p.Pro169Ser
ENST00000403550.5:c.313C>T (BSCL2)	ENSP00000385561.1:p.Pro105Ser
ENST00000403734.2:c.*556C>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*556C>T
ENST00000405837.5:c.505C>T (BSCL2)	ENSP00000385332.1:p.Pro169Ser
ENST00000407022.7:c.313C>T (BSCL2)	ENSP00000384080.3:p.Pro105Ser
ENST00000412351.1:n.103C>T (BSCL2)
ENST00000421906.5:c.313C>T (BSCL2)	ENSP00000413209.1:p.Pro105Ser
ENST00000448568.6:c.313C>T (BSCL2)	ENSP00000413340.2:p.Pro105Ser
ENST00000524862.5:c.505C>T (BSCL2)	ENSP00000433888.1:p.Pro169Ser
ENST00000525000.5:c.137C>T (BSCL2)
ENST00000526426.1:n.20C>T (BSCL2)
ENST00000530900.1:n.305C>T (BSCL2)
ENST00000531524.5:c.106C>T (BSCL2)	ENSP00000436026.1:p.Pro36Ser
ENST00000532115.5:n.19C>T (BSCL2)
ENST00000537604.5:n.556C>T (BSCL2)
NM_001122955.3:c.505C>T (BSCL2)	NP_001116427.1:p.Pro169Ser
NM_001130702.2:c.313C>T (BSCL2)	NP_001124174.2:p.Pro105Ser
NM_032667.6:c.313C>T (BSCL2)	NP_116056.3:p.Pro105Ser
NR_037946.1:n.3025C>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1107C>T (BSCL2)
NR_037949.1:n.1107C>T (BSCL2)
NM_001122955.4:c.505C>T (BSCL2) MANE Select	NP_001116427.1:p.Pro169Ser
NM_001386027.1:c.505C>T (BSCL2)	NP_001372956.1:p.Pro169Ser
NM_001386028.1:c.505C>T (BSCL2)	NP_001372957.1:p.Pro169Ser