Canonical Allele Identifier: CA380962177

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• MyVariant Identifiers: chr11:g.62459908C>A (hg19) ; chr11:g.62692436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692436C>A , CM000673.2:g.62692436C>A	GRCh38
NC_000011.9:g.62459908C>A , CM000673.1:g.62459908C>A	GRCh37
NC_000011.8:g.62216484C>A	NCBI36
NG_008461.1:g.22139G>T
NG_033077.1:g.2464G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.995G>T (BSCL2)
ENST00000449636.6:c.311G>T (BSCL2)	ENSP00000405265.2:p.Ser104Ile
ENST00000524862.6:c.803G>T (BSCL2)	ENSP00000433888.2:p.Ser268Ile
ENST00000682003.1:n.846G>T (BSCL2)
ENST00000682223.1:c.803G>T (BSCL2)	ENSP00000508140.1:p.Ser268Ile
ENST00000682262.1:c.631-1015G>T (BSCL2)	ENSP00000507103.1:n.631-1015G>T
ENST00000682555.1:c.721G>T (BSCL2)	ENSP00000507814.1:p.Ala241Ser
ENST00000682644.1:n.1195G>T (BSCL2)
ENST00000682794.1:n.1113G>T (BSCL2)
ENST00000683025.1:c.*450G>T (BSCL2)	ENSP00000507028.1:n.*450G>T
ENST00000683296.1:c.803G>T (BSCL2)	ENSP00000507725.1:p.Ser268Ile
ENST00000683368.1:n.994G>T (BSCL2)
ENST00000683494.1:n.1384G>T (BSCL2)
ENST00000683846.1:n.1143G>T (BSCL2)
ENST00000683892.1:n.1305G>T (BSCL2)
ENST00000684067.1:c.803G>T (BSCL2)	ENSP00000506799.1:p.Ser268Ile
ENST00000684115.1:n.1384G>T (BSCL2)
ENST00000684258.1:n.1231G>T (BSCL2)
ENST00000684285.1:c.*310G>T (BSCL2)	ENSP00000507669.1:n.*310G>T
ENST00000684475.1:c.668G>T (BSCL2)	ENSP00000507429.1:p.Ser223Ile
ENST00000684609.1:n.1195G>T (BSCL2)
ENST00000684720.1:n.1195G>T (BSCL2)
ENST00000360796.10:c.803G>T (BSCL2) MANE Select	ENSP00000354032.5:p.Ser268Ile
ENST00000679883.1:c.803G>T (BSCL2)	ENSP00000505838.1:p.Ser268Ile
ENST00000278893.11:c.611G>T (BSCL2)	ENSP00000278893.7:p.Ser204Ile
ENST00000301781.10:c.748G>T (BSCL2)	ENSP00000301781.5:p.Ala250Ser
ENST00000360796.9:c.803G>T (BSCL2)	ENSP00000354032.5:p.Ser268Ile
ENST00000403098.6:c.125G>T (BSCL2)	ENSP00000384258.2:p.Ser42Ile
ENST00000403550.5:c.611G>T (BSCL2)	ENSP00000385561.1:p.Ser204Ile
ENST00000403734.2:c.*854G>T (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*854G>T
ENST00000405837.5:c.803G>T (BSCL2)	ENSP00000385332.1:p.Ser268Ile
ENST00000407022.7:c.611G>T (BSCL2)	ENSP00000384080.3:p.Ser204Ile
ENST00000412351.1:n.401G>T (BSCL2)
ENST00000421906.5:c.611G>T (BSCL2)	ENSP00000413209.1:p.Ser204Ile
ENST00000448568.6:c.611G>T (BSCL2)	ENSP00000413340.2:p.Ser204Ile
ENST00000468505.5:n.173G>T (BSCL2)
ENST00000526426.1:n.327G>T (BSCL2)
ENST00000532115.5:n.182G>T (BSCL2)
NM_001122955.3:c.803G>T (BSCL2)	NP_001116427.1:p.Ser268Ile
NM_001130702.2:c.611G>T (BSCL2)	NP_001124174.2:p.Ser204Ile
NM_032667.6:c.611G>T (BSCL2)	NP_116056.3:p.Ser204Ile
NR_037946.1:n.3323G>T (HNRNPUL2-BSCL2)
NR_037948.1:n.1405G>T (BSCL2)
NR_037949.1:n.1405G>T (BSCL2)
NM_001122955.4:c.803G>T (BSCL2) MANE Select	NP_001116427.1:p.Ser268Ile
NM_001386027.1:c.803G>T (BSCL2)	NP_001372956.1:p.Ser268Ile
NM_001386028.1:c.803G>T (BSCL2)	NP_001372957.1:p.Ser268Ile