Canonical Allele Identifier: CA9938742

Gene: OSBPL2

Linked Data

• ClinVar Variation Id: 506081
• ClinVar RCV Id: RCV000608728 ; RCV001788296 ; RCV002062147
• dbSNP Id: rs3746657
• ExAC: 20:60864390 C / T
• gnomAD v2: 20-60864390-C-T
• gnomAD v3: 20-62289334-C-T
• gnomAD v4: 20-62289334-C-T
• MyVariant Identifiers: chr20:g.60864390C>T (hg19) ; chr20:g.62289334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62289334C>T , CM000682.2:g.62289334C>T	GRCh38
NC_000020.10:g.60864390C>T , CM000682.1:g.60864390C>T	GRCh37
NC_000020.9:g.60297785C>T	NCBI36
NG_042164.1:g.55850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313733.9:c.1249+4C>T MANE Select	ENSP00000316649.3:n.1249+4C>T
ENST00000642516.1:c.*970+4C>T	ENSP00000494756.1:n.*970+4C>T
ENST00000642714.1:c.1106+4C>T
ENST00000642932.1:c.*1255+4C>T	ENSP00000495393.1:n.*1255+4C>T
ENST00000643174.1:c.*1041+4C>T	ENSP00000493721.1:n.*1041+4C>T
ENST00000643412.1:c.1249+4C>T	ENSP00000494549.1:n.1249+4C>T
ENST00000643981.1:c.1249+4C>T	ENSP00000495379.1:n.1249+4C>T
ENST00000644535.1:c.*291+4C>T	ENSP00000495676.1:n.*291+4C>T
ENST00000644702.1:c.1153+4C>T	ENSP00000494264.1:n.1153+4C>T
ENST00000644775.1:c.1048+4C>T	ENSP00000495955.1:n.1048+4C>T
ENST00000645426.1:c.*1375+4C>T	ENSP00000495812.1:n.*1375+4C>T
ENST00000645442.1:c.973+4C>T	ENSP00000494921.1:n.973+4C>T
ENST00000645520.1:c.850-2369C>T	ENSP00000495166.1:n.850-2369C>T
ENST00000646834.1:c.*762+4C>T	ENSP00000494692.1:n.*762+4C>T
ENST00000646968.1:c.*671+4C>T	ENSP00000495611.1:n.*671+4C>T
ENST00000313733.7:c.1249+4C>T	ENSP00000316649.3:n.1249+4C>T
ENST00000358053.3:c.1213+4C>T	ENSP00000350755.2:n.1213+4C>T
ENST00000439951.6:c.850-2369C>T	ENSP00000397602.2:n.850-2369C>T
NM_001278649.1:c.850-2369C>T	NP_001265578.1:n.850-2369C>T
NM_014835.3:c.1213+4C>T	NP_055650.1:n.1213+4C>T
NM_144498.2:c.1249+4C>T	NP_653081.1:n.1249+4C>T
XM_011529117.1:c.1249+4C>T	XP_011527419.1:n.1249+4C>T
XM_011529118.1:c.1249+4C>T	XP_011527420.1:n.1249+4C>T
XM_011529119.1:c.973+4C>T	XP_011527421.1:n.973+4C>T
XM_011529120.1:c.973+4C>T	XP_011527422.1:n.973+4C>T
NM_001363878.1:c.973+4C>T	NP_001350807.1:n.973+4C>T
XM_017028165.1:c.1249+4C>T	XP_016883654.1:n.1249+4C>T
XM_017028170.1:c.685+4C>T	XP_016883659.1:n.685+4C>T
NM_001278649.2:c.850-2369C>T	NP_001265578.1:n.850-2369C>T
NM_014835.4:c.1213+4C>T	NP_055650.1:n.1213+4C>T
NM_144498.4:c.1249+4C>T MANE Select	NP_653081.1:n.1249+4C>T
NM_001278649.3:c.850-2369C>T	NP_001265578.1:n.850-2369C>T
NM_001363878.2:c.973+4C>T	NP_001350807.1:n.973+4C>T
NM_014835.5:c.1213+4C>T	NP_055650.1:n.1213+4C>T