Canonical Allele Identifier: CA277931

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62691424G>C , CM000673.2:g.62691424G>C	GRCh38
NC_000011.9:g.62458896G>C , CM000673.1:g.62458896G>C	GRCh37
NC_000011.8:g.62215472G>C	NCBI36
NG_008461.1:g.23151C>G
NG_033077.1:g.3476C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001122955.4:c.864-3C>G (BSCL2) MANE Select	NP_001116427.1:n.864-3C>G
ENST00000360796.10:c.864-3C>G (BSCL2) MANE Select	ENSP00000354032.5:n.864-3C>G
NM_001122955.3:c.864-3C>G (BSCL2)	NP_001116427.1:n.864-3C>G
NM_001130702.2:c.672-283C>G (BSCL2)	NP_001124174.2:n.672-283C>G
NM_001386027.1:c.864-3C>G (BSCL2)	NP_001372956.1:n.864-3C>G
NM_001386028.1:c.864-3C>G (BSCL2)	NP_001372957.1:n.864-3C>G
NM_032667.6:c.672-3C>G (BSCL2)	NP_116056.3:n.672-3C>G
NR_037946.1:n.3384-3C>G (HNRNPUL2-BSCL2)
NR_037948.1:n.1466-3C>G (BSCL2)
NR_037949.1:n.1466-3C>G (BSCL2)
ENST00000278893.11:c.672-283C>G (BSCL2)	ENSP00000278893.7:n.672-283C>G
ENST00000301781.10:c.809-3C>G (BSCL2)	ENSP00000301781.5:n.809-3C>G
ENST00000360796.9:c.864-3C>G (BSCL2)	ENSP00000354032.5:n.864-3C>G
ENST00000403098.6:c.185+952C>G (BSCL2)	ENSP00000384258.2:n.185+952C>G
ENST00000403550.5:c.672-3C>G (BSCL2)	ENSP00000385561.1:n.672-3C>G
ENST00000403734.2:c.*915-3C>G (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*915-3C>G
ENST00000405837.5:c.864-3C>G (BSCL2)	ENSP00000385332.1:n.864-3C>G
ENST00000407022.7:c.672-3C>G (BSCL2)	ENSP00000384080.3:n.672-3C>G
ENST00000412351.1:n.462-3C>G (BSCL2)
ENST00000412351.2:n.1056-3C>G (BSCL2)
ENST00000421906.5:c.672-3C>G (BSCL2)	ENSP00000413209.1:n.672-3C>G
ENST00000449636.6:c.372-3C>G (BSCL2)	ENSP00000405265.2:n.372-3C>G
ENST00000463679.6:n.506C>G (BSCL2)
ENST00000468505.5:n.234-3C>G (BSCL2)
ENST00000524862.6:c.864-3C>G (BSCL2)	ENSP00000433888.2:n.864-3C>G
ENST00000532115.5:n.243-3C>G (BSCL2)
ENST00000679883.1:c.864-3C>G (BSCL2)	ENSP00000505838.1:n.864-3C>G
ENST00000682003.1:n.907-3C>G (BSCL2)
ENST00000682223.1:c.864-3C>G (BSCL2)	ENSP00000508140.1:n.864-3C>G
ENST00000682262.1:c.631-3C>G (BSCL2)	ENSP00000507103.1:n.631-3C>G
ENST00000682555.1:c.782-3C>G (BSCL2)	ENSP00000507814.1:n.782-3C>G
ENST00000682644.1:n.1256-3C>G (BSCL2)
ENST00000682794.1:n.1174-3C>G (BSCL2)
ENST00000683025.1:c.*511-3C>G (BSCL2)	ENSP00000507028.1:n.*511-3C>G
ENST00000683193.1:n.443C>G (BSCL2)
ENST00000683296.1:c.864-3C>G (BSCL2)	ENSP00000507725.1:n.864-3C>G
ENST00000683368.1:n.1055-3C>G (BSCL2)
ENST00000683494.1:n.2396C>G (BSCL2)
ENST00000683846.1:n.1204-3C>G (BSCL2)
ENST00000683892.1:n.1366-3C>G (BSCL2)
ENST00000684067.1:c.864-3C>G (BSCL2)	ENSP00000506799.1:n.864-3C>G
ENST00000684115.1:n.1445-3C>G (BSCL2)
ENST00000684258.1:n.1292-3C>G (BSCL2)
ENST00000684285.1:c.*371-3C>G (BSCL2)	ENSP00000507669.1:n.*371-3C>G
ENST00000684475.1:c.729-3C>G (BSCL2)	ENSP00000507429.1:n.729-3C>G
ENST00000684609.1:n.1256-3C>G (BSCL2)
ENST00000684720.1:n.2207C>G (BSCL2)