Canonical Allele Identifier: CA6053228

Gene: BSCL2 HNRNPUL2-BSCL2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62690318A>C , CM000673.2:g.62690318A>C	GRCh38
NC_000011.9:g.62457790A>C , CM000673.1:g.62457790A>C	GRCh37
NC_000011.8:g.62214366A>C	NCBI36
NG_008461.1:g.24257T>G
NG_033077.1:g.4582T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001122955.4:c.*49T>G (BSCL2) MANE Select	NP_001116427.1:n.*49T>G
ENST00000360796.10:c.*49T>G (BSCL2) MANE Select	ENSP00000354032.5:n.*49T>G
NM_001122955.3:c.*49T>G (BSCL2)	NP_001116427.1:n.*49T>G
NM_001130702.2:c.*240T>G (BSCL2)	NP_001124174.2:n.*240T>G
NM_001386027.1:c.*49T>G (BSCL2)	NP_001372956.1:n.*49T>G
NM_001386028.1:c.*49T>G (BSCL2)	NP_001372957.1:n.*49T>G
NM_032667.6:c.*49T>G (BSCL2)	NP_116056.3:n.*49T>G
NR_037946.1:n.3958T>G (HNRNPUL2-BSCL2)
NR_037948.1:n.2040T>G (BSCL2)
NR_037949.1:n.2046T>G (BSCL2)
ENST00000278893.11:c.*240T>G (BSCL2)	ENSP00000278893.7:n.*240T>G
ENST00000301781.10:c.*549T>G (BSCL2)	ENSP00000301781.5:n.*549T>G
ENST00000360796.9:c.*49T>G (BSCL2)	ENSP00000354032.5:n.*49T>G
ENST00000403098.6:c.289T>G (BSCL2)	ENSP00000384258.2:n.289T>G
ENST00000403550.5:c.*49T>G (BSCL2)	ENSP00000385561.1:n.*49T>G
ENST00000403734.2:c.*1489T>G (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*1489T>G
ENST00000405837.5:c.*49T>G (BSCL2)	ENSP00000385332.1:n.*49T>G
ENST00000407022.7:c.*49T>G (BSCL2)	ENSP00000384080.3:n.*49T>G
ENST00000421906.5:c.*49T>G (BSCL2)	ENSP00000413209.1:n.*49T>G
ENST00000449636.5:c.502T>G (BSCL2)	ENSP00000405265.1:n.502T>G
ENST00000449636.6:c.*49T>G (BSCL2)	ENSP00000405265.2:n.*49T>G
ENST00000463679.5:n.841T>G (BSCL2)
ENST00000470529.5:n.470T>G (BSCL2)
ENST00000524862.6:c.*49T>G (BSCL2)	ENSP00000433888.2:n.*49T>G
ENST00000679883.1:c.*49T>G (BSCL2)	ENSP00000505838.1:n.*49T>G
ENST00000682003.1:n.1826T>G (BSCL2)
ENST00000682262.1:c.*500T>G (BSCL2)	ENSP00000507103.1:n.*500T>G
ENST00000682555.1:c.*549T>G (BSCL2)	ENSP00000507814.1:n.*549T>G
ENST00000683025.1:c.*1223T>G (BSCL2)	ENSP00000507028.1:n.*1223T>G
ENST00000683296.1:c.*49T>G (BSCL2)	ENSP00000507725.1:n.*49T>G
ENST00000683494.1:n.3318T>G (BSCL2)
ENST00000683846.1:n.1778T>G (BSCL2)
ENST00000683892.1:n.2078T>G (BSCL2)
ENST00000684067.1:c.*49T>G (BSCL2)	ENSP00000506799.1:n.*49T>G
ENST00000684115.1:n.2019T>G (BSCL2)
ENST00000684258.1:n.2211T>G (BSCL2)
ENST00000684285.1:c.*945T>G (BSCL2)	ENSP00000507669.1:n.*945T>G
ENST00000684475.1:c.*49T>G (BSCL2)	ENSP00000507429.1:n.*49T>G