Canonical Allele Identifier: CA269959

Gene: CUL3

Linked Data

• ClinVar Variation Id: 100520
• ClinVar RCV Id: RCV000023255 ; RCV000128491
• dbSNP Id: rs199469652
• MyVariant Identifiers: chr2:g.225368544A>T (hg19) ; chr2:g.224503827A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503827A>T , CM000664.2:g.224503827A>T	GRCh38
NC_000002.11:g.225368544A>T , CM000664.1:g.225368544A>T	GRCh37
NC_000002.10:g.225076788A>T	NCBI36
NG_032169.1:g.86571T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1207-5T>A MANE Select	ENSP00000264414.4:n.1207-5T>A
ENST00000264414.8:c.1207-5T>A	ENSP00000264414.4:n.1207-5T>A
ENST00000344951.8:c.1009-5T>A	ENSP00000343601.4:n.1009-5T>A
ENST00000409096.5:c.1135-5T>A	ENSP00000387200.1:n.1135-5T>A
ENST00000409777.5:c.1135-5T>A	ENSP00000386525.1:n.1135-5T>A
ENST00000481135.1:n.498T>A
ENST00000617432.4:c.-70-5T>A	ENSP00000477851.1:n.-70-5T>A
NM_001257197.1:c.1009-5T>A	NP_001244126.1:n.1009-5T>A
NM_001257198.1:c.1225-5T>A	NP_001244127.1:n.1225-5T>A
NM_003590.4:c.1207-5T>A	NP_003581.1:n.1207-5T>A
XM_006712800.2:c.1174-5T>A	XP_006712863.2:n.1174-5T>A
XM_011511994.1:c.1060-5T>A	XP_011510296.1:n.1060-5T>A
XM_011511995.1:c.1165-5T>A	XP_011510297.1:n.1165-5T>A
XM_011511996.1:c.1015-5T>A	XP_011510298.1:n.1015-5T>A
XM_011511997.1:c.907-5T>A	XP_011510299.1:n.907-5T>A
XM_011511994.3:c.1060-5T>A	XP_011510296.1:n.1060-5T>A
XM_011511996.2:c.1015-5T>A	XP_011510298.1:n.1015-5T>A
NM_003590.5:c.1207-5T>A MANE Select	NP_003581.1:n.1207-5T>A
NM_001257198.2:c.1225-5T>A	NP_001244127.1:n.1225-5T>A
NM_001257197.2:c.1009-5T>A	NP_001244126.1:n.1009-5T>A