Canonical Allele Identifier: CA380961997

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• gnomAD v4: 11-62692399-G-C
• MyVariant Identifiers: chr11:g.62459871G>C (hg19) ; chr11:g.62692399G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692399G>C , CM000673.2:g.62692399G>C	GRCh38
NC_000011.9:g.62459871G>C , CM000673.1:g.62459871G>C	GRCh37
NC_000011.8:g.62216447G>C	NCBI36
NG_008461.1:g.22176C>G
NG_033077.1:g.2501C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.1032C>G (BSCL2)
ENST00000449636.6:c.348C>G (BSCL2)	ENSP00000405265.2:p.Ile116Met
ENST00000524862.6:c.840C>G (BSCL2)	ENSP00000433888.2:p.Ile280Met
ENST00000682003.1:n.883C>G (BSCL2)
ENST00000682223.1:c.840C>G (BSCL2)	ENSP00000508140.1:p.Ile280Met
ENST00000682262.1:c.631-978C>G (BSCL2)	ENSP00000507103.1:n.631-978C>G
ENST00000682555.1:c.758C>G (BSCL2)	ENSP00000507814.1:p.Ser253Cys
ENST00000682644.1:n.1232C>G (BSCL2)
ENST00000682794.1:n.1150C>G (BSCL2)
ENST00000683025.1:c.*487C>G (BSCL2)	ENSP00000507028.1:n.*487C>G
ENST00000683296.1:c.840C>G (BSCL2)	ENSP00000507725.1:p.Ile280Met
ENST00000683368.1:n.1031C>G (BSCL2)
ENST00000683494.1:n.1421C>G (BSCL2)
ENST00000683846.1:n.1180C>G (BSCL2)
ENST00000683892.1:n.1342C>G (BSCL2)
ENST00000684067.1:c.840C>G (BSCL2)	ENSP00000506799.1:p.Ile280Met
ENST00000684115.1:n.1421C>G (BSCL2)
ENST00000684258.1:n.1268C>G (BSCL2)
ENST00000684285.1:c.*347C>G (BSCL2)	ENSP00000507669.1:n.*347C>G
ENST00000684475.1:c.705C>G (BSCL2)	ENSP00000507429.1:p.Ile235Met
ENST00000684609.1:n.1232C>G (BSCL2)
ENST00000684720.1:n.1232C>G (BSCL2)
ENST00000360796.10:c.840C>G (BSCL2) MANE Select	ENSP00000354032.5:p.Ile280Met
ENST00000679883.1:c.840C>G (BSCL2)	ENSP00000505838.1:p.Ile280Met
ENST00000278893.11:c.648C>G (BSCL2)	ENSP00000278893.7:p.Ile216Met
ENST00000301781.10:c.785C>G (BSCL2)	ENSP00000301781.5:p.Ser262Cys
ENST00000360796.9:c.840C>G (BSCL2)	ENSP00000354032.5:p.Ile280Met
ENST00000403098.6:c.162C>G (BSCL2)	ENSP00000384258.2:p.Ile54Met
ENST00000403550.5:c.648C>G (BSCL2)	ENSP00000385561.1:p.Ile216Met
ENST00000403734.2:c.*891C>G (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*891C>G
ENST00000405837.5:c.840C>G (BSCL2)	ENSP00000385332.1:p.Ile280Met
ENST00000407022.7:c.648C>G (BSCL2)	ENSP00000384080.3:p.Ile216Met
ENST00000412351.1:n.438C>G (BSCL2)
ENST00000421906.5:c.648C>G (BSCL2)	ENSP00000413209.1:p.Ile216Met
ENST00000448568.6:c.648C>G (BSCL2)	ENSP00000413340.2:p.Ile216Met
ENST00000468505.5:n.210C>G (BSCL2)
ENST00000532115.5:n.219C>G (BSCL2)
NM_001122955.3:c.840C>G (BSCL2)	NP_001116427.1:p.Ile280Met
NM_001130702.2:c.648C>G (BSCL2)	NP_001124174.2:p.Ile216Met
NM_032667.6:c.648C>G (BSCL2)	NP_116056.3:p.Ile216Met
NR_037946.1:n.3360C>G (HNRNPUL2-BSCL2)
NR_037948.1:n.1442C>G (BSCL2)
NR_037949.1:n.1442C>G (BSCL2)
NM_001122955.4:c.840C>G (BSCL2) MANE Select	NP_001116427.1:p.Ile280Met
NM_001386027.1:c.840C>G (BSCL2)	NP_001372956.1:p.Ile280Met
NM_001386028.1:c.840C>G (BSCL2)	NP_001372957.1:p.Ile280Met