Canonical Allele Identifier: CA6053675
Gene: BSCL2 HGNC NCBI
HNRNPUL2-BSCL2 HGNC NCBI
GNG3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62707136G>C , CM000673.2:g.62707136G>C GRCh38
NC_000011.9:g.62474608G>C , CM000673.1:g.62474608G>C GRCh37
NC_000011.8:g.62231184G>C NCBI36
NG_008461.1:g.7439C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449636.6:c.-116C>G (BSCL2) ENSP00000405265.2:n.-116C>G
ENST00000524862.6:c.60C>G (BSCL2) ENSP00000433888.2:p.Asp20Glu
ENST00000682223.1:c.60C>G (BSCL2) ENSP00000508140.1:p.Asp20Glu
ENST00000682262.1:c.60C>G (BSCL2) ENSP00000507103.1:p.Asp20Glu
ENST00000682555.1:c.60C>G (BSCL2) ENSP00000507814.1:p.Asp20Glu
ENST00000682644.1:n.452C>G (BSCL2)
ENST00000682794.1:n.452C>G (BSCL2)
ENST00000683025.1:c.60C>G (BSCL2) ENSP00000507028.1:p.Asp20Glu
ENST00000683296.1:c.60C>G (BSCL2) ENSP00000507725.1:p.Asp20Glu
ENST00000683494.1:n.452C>G (BSCL2)
ENST00000683892.1:n.562C>G (BSCL2)
ENST00000684067.1:c.60C>G (BSCL2) ENSP00000506799.1:p.Asp20Glu
ENST00000684115.1:n.452C>G (BSCL2)
ENST00000684285.1:c.60C>G (BSCL2) ENSP00000507669.1:p.Asp20Glu
ENST00000684475.1:c.60C>G (BSCL2) ENSP00000507429.1:p.Asp20Glu
ENST00000684609.1:n.452C>G (BSCL2)
ENST00000684720.1:n.452C>G (BSCL2)
ENST00000360796.10:c.60C>G (BSCL2) MANE Select ENSP00000354032.5:p.Asp20Glu
ENST00000679883.1:c.60C>G (BSCL2) ENSP00000505838.1:p.Asp20Glu
ENST00000301781.10:c.60C>G (BSCL2) ENSP00000301781.5:p.Asp20Glu
ENST00000360796.9:c.60C>G (BSCL2) ENSP00000354032.5:p.Asp20Glu
ENST00000403734.2:c.*111C>G (HNRNPUL2-BSCL2) ENSP00000456010.1:n.*111C>G
ENST00000405837.5:c.60C>G (BSCL2) ENSP00000385332.1:p.Asp20Glu
ENST00000413908.1:c.60C>G (BSCL2) ENSP00000393728.1:p.Asp20Glu
ENST00000464544.1:c.60C>G (BSCL2) ENSP00000431782.1:p.Asp20Glu
ENST00000524862.5:c.60C>G (BSCL2) ENSP00000433888.1:p.Asp20Glu
ENST00000525000.5:c.9C>G (BSCL2)
ENST00000528874.1:c.60C>G (BSCL2) ENSP00000436991.1:p.Asp20Glu
ENST00000530009.1:c.60C>G (BSCL2) ENSP00000435500.1:p.Asp20Glu
ENST00000531524.5:c.60C>G (BSCL2) ENSP00000436026.1:p.Asp20Glu
ENST00000532818.5:c.60C>G (BSCL2) ENSP00000435831.1:p.Asp20Glu
ENST00000533982.1:c.-74C>G (BSCL2) ENSP00000434149.1:n.-74C>G
NM_001122955.3:c.60C>G (BSCL2) NP_001116427.1:p.Asp20Glu
NR_037946.1:n.2580C>G (HNRNPUL2-BSCL2)
NR_037948.1:n.662C>G (BSCL2)
NR_037949.1:n.662C>G (BSCL2)
XM_006718501.2:c.-218+433G>C (GNG3) XP_006718564.1:n.-218+433G>C
NM_001122955.4:c.60C>G (BSCL2) MANE Select NP_001116427.1:p.Asp20Glu
NM_001386027.1:c.60C>G (BSCL2) NP_001372956.1:p.Asp20Glu
NM_001386028.1:c.60C>G (BSCL2) NP_001372957.1:p.Asp20Glu