Canonical Allele Identifier: CA380961952

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• gnomAD v4: 11-62692390-G-T
• MyVariant Identifiers: chr11:g.62459862G>T (hg19) ; chr11:g.62692390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692390G>T , CM000673.2:g.62692390G>T	GRCh38
NC_000011.9:g.62459862G>T , CM000673.1:g.62459862G>T	GRCh37
NC_000011.8:g.62216438G>T	NCBI36
NG_008461.1:g.22185C>A
NG_033077.1:g.2510C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000412351.2:n.1041C>A (BSCL2)
ENST00000449636.6:c.357C>A (BSCL2)	ENSP00000405265.2:p.His119Gln
ENST00000524862.6:c.849C>A (BSCL2)	ENSP00000433888.2:p.His283Gln
ENST00000682003.1:n.892C>A (BSCL2)
ENST00000682223.1:c.849C>A (BSCL2)	ENSP00000508140.1:p.His283Gln
ENST00000682262.1:c.631-969C>A (BSCL2)	ENSP00000507103.1:n.631-969C>A
ENST00000682555.1:c.767C>A (BSCL2)	ENSP00000507814.1:p.Thr256Asn
ENST00000682644.1:n.1241C>A (BSCL2)
ENST00000682794.1:n.1159C>A (BSCL2)
ENST00000683025.1:c.*496C>A (BSCL2)	ENSP00000507028.1:n.*496C>A
ENST00000683296.1:c.849C>A (BSCL2)	ENSP00000507725.1:p.His283Gln
ENST00000683368.1:n.1040C>A (BSCL2)
ENST00000683494.1:n.1430C>A (BSCL2)
ENST00000683846.1:n.1189C>A (BSCL2)
ENST00000683892.1:n.1351C>A (BSCL2)
ENST00000684067.1:c.849C>A (BSCL2)	ENSP00000506799.1:p.His283Gln
ENST00000684115.1:n.1430C>A (BSCL2)
ENST00000684258.1:n.1277C>A (BSCL2)
ENST00000684285.1:c.*356C>A (BSCL2)	ENSP00000507669.1:n.*356C>A
ENST00000684475.1:c.714C>A (BSCL2)	ENSP00000507429.1:p.His238Gln
ENST00000684609.1:n.1241C>A (BSCL2)
ENST00000684720.1:n.1241C>A (BSCL2)
ENST00000360796.10:c.849C>A (BSCL2) MANE Select	ENSP00000354032.5:p.His283Gln
ENST00000679883.1:c.849C>A (BSCL2)	ENSP00000505838.1:p.His283Gln
ENST00000278893.11:c.657C>A (BSCL2)	ENSP00000278893.7:p.His219Gln
ENST00000301781.10:c.794C>A (BSCL2)	ENSP00000301781.5:p.Thr265Asn
ENST00000360796.9:c.849C>A (BSCL2)	ENSP00000354032.5:p.His283Gln
ENST00000403098.6:c.171C>A (BSCL2)	ENSP00000384258.2:p.His57Gln
ENST00000403550.5:c.657C>A (BSCL2)	ENSP00000385561.1:p.His219Gln
ENST00000403734.2:c.*900C>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*900C>A
ENST00000405837.5:c.849C>A (BSCL2)	ENSP00000385332.1:p.His283Gln
ENST00000407022.7:c.657C>A (BSCL2)	ENSP00000384080.3:p.His219Gln
ENST00000412351.1:n.447C>A (BSCL2)
ENST00000421906.5:c.657C>A (BSCL2)	ENSP00000413209.1:p.His219Gln
ENST00000448568.6:c.657C>A (BSCL2)	ENSP00000413340.2:p.His219Gln
ENST00000468505.5:n.219C>A (BSCL2)
ENST00000532115.5:n.228C>A (BSCL2)
NM_001122955.3:c.849C>A (BSCL2)	NP_001116427.1:p.His283Gln
NM_001130702.2:c.657C>A (BSCL2)	NP_001124174.2:p.His219Gln
NM_032667.6:c.657C>A (BSCL2)	NP_116056.3:p.His219Gln
NR_037946.1:n.3369C>A (HNRNPUL2-BSCL2)
NR_037948.1:n.1451C>A (BSCL2)
NR_037949.1:n.1451C>A (BSCL2)
NM_001122955.4:c.849C>A (BSCL2) MANE Select	NP_001116427.1:p.His283Gln
NM_001386027.1:c.849C>A (BSCL2)	NP_001372956.1:p.His283Gln
NM_001386028.1:c.849C>A (BSCL2)	NP_001372957.1:p.His283Gln