Canonical Allele Identifier: CA16621621

Gene: BSCL2 GNG3 HNRNPUL2-BSCL2

Linked Data

• ClinVar Variation Id: 424980
• ClinVar RCV Id: RCV000487748
• dbSNP Id: rs1064797156
• gnomAD v2: 11-62475858-C-T
• gnomAD v4: 11-62708386-C-T
• MyVariant Identifiers: chr11:g.62475858C>T (hg19) ; chr11:g.62708386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62708386C>T , CM000673.2:g.62708386C>T	GRCh38
NC_000011.9:g.62475858C>T , CM000673.1:g.62475858C>T	GRCh37
NC_000011.8:g.62232434C>T	NCBI36
NG_008461.1:g.6189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524862.6:c.-130+878G>A (BSCL2)	ENSP00000433888.2:n.-130+878G>A
ENST00000683892.1:n.373+761G>A (BSCL2)
ENST00000294117.6:c.91C>T (GNG3) MANE Select	ENSP00000294117.5:p.Arg31Trp
ENST00000679883.1:c.-130+761G>A (BSCL2)	ENSP00000505838.1:n.-130+761G>A
ENST00000294117.5:c.91C>T (GNG3)	ENSP00000294117.5:p.Arg31Trp
ENST00000403734.2:c.2164-1062G>A (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.2164-1062G>A
ENST00000405837.5:c.-130+761G>A (BSCL2)	ENSP00000385332.1:n.-130+761G>A
ENST00000464544.1:c.-130+761G>A (BSCL2)	ENSP00000431782.1:n.-130+761G>A
ENST00000524862.5:c.-130+878G>A (BSCL2)	ENSP00000433888.1:n.-130+878G>A
ENST00000528874.1:c.-130+325G>A (BSCL2)	ENSP00000436991.1:n.-130+325G>A
ENST00000530009.1:c.-260-378G>A (BSCL2)	ENSP00000435500.1:n.-260-378G>A
ENST00000531524.5:c.-130+761G>A (BSCL2)	ENSP00000436026.1:n.-130+761G>A
ENST00000532818.5:c.-129-1062G>A (BSCL2)	ENSP00000435831.1:n.-129-1062G>A
NM_012202.4:c.91C>T (GNG3)	NP_036334.1:p.Arg31Trp
NR_037946.1:n.2392-1062G>A (HNRNPUL2-BSCL2)
NR_037948.1:n.473+761G>A (BSCL2)
NR_037949.1:n.473+761G>A (BSCL2)
XM_006718500.2:c.91C>T (GNG3)	XP_006718563.1:p.Arg31Trp
XM_006718501.2:c.91C>T (GNG3)	XP_006718564.1:p.Arg31Trp
NM_012202.5:c.91C>T (GNG3) MANE Select	NP_036334.1:p.Arg31Trp
NM_001386027.1:c.-130+761G>A (BSCL2)	NP_001372956.1:n.-130+761G>A
NM_001386028.1:c.-130+761G>A (BSCL2)	NP_001372957.1:n.-130+761G>A