Canonical Allele Identifier: CA269954

Gene: CUL3

Linked Data

• ClinVar Variation Id: 100515
• ClinVar RCV Id: RCV000023254 ; RCV000128486
• dbSNP Id: rs199469651
• MyVariant Identifiers: chr2:g.225368551A>C (hg19) ; chr2:g.224503834A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503834A>C , CM000664.2:g.224503834A>C	GRCh38
NC_000002.11:g.225368551A>C , CM000664.1:g.225368551A>C	GRCh37
NC_000002.10:g.225076795A>C	NCBI36
NG_032169.1:g.86564T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1207-12T>G MANE Select	ENSP00000264414.4:n.1207-12T>G
ENST00000264414.8:c.1207-12T>G	ENSP00000264414.4:n.1207-12T>G
ENST00000344951.8:c.1009-12T>G	ENSP00000343601.4:n.1009-12T>G
ENST00000409096.5:c.1135-12T>G	ENSP00000387200.1:n.1135-12T>G
ENST00000409777.5:c.1135-12T>G	ENSP00000386525.1:n.1135-12T>G
ENST00000481135.1:n.491T>G
ENST00000617432.4:c.-70-12T>G	ENSP00000477851.1:n.-70-12T>G
NM_001257197.1:c.1009-12T>G	NP_001244126.1:n.1009-12T>G
NM_001257198.1:c.1225-12T>G	NP_001244127.1:n.1225-12T>G
NM_003590.4:c.1207-12T>G	NP_003581.1:n.1207-12T>G
XM_006712800.2:c.1174-12T>G	XP_006712863.2:n.1174-12T>G
XM_011511994.1:c.1060-12T>G	XP_011510296.1:n.1060-12T>G
XM_011511995.1:c.1165-12T>G	XP_011510297.1:n.1165-12T>G
XM_011511996.1:c.1015-12T>G	XP_011510298.1:n.1015-12T>G
XM_011511997.1:c.907-12T>G	XP_011510299.1:n.907-12T>G
XM_011511994.3:c.1060-12T>G	XP_011510296.1:n.1060-12T>G
XM_011511996.2:c.1015-12T>G	XP_011510298.1:n.1015-12T>G
NM_003590.5:c.1207-12T>G MANE Select	NP_003581.1:n.1207-12T>G
NM_001257198.2:c.1225-12T>G	NP_001244127.1:n.1225-12T>G
NM_001257197.2:c.1009-12T>G	NP_001244126.1:n.1009-12T>G