Canonical Allele Identifier: CA350827452

Gene: CUL3

Linked Data

• dbSNP Id: rs1382872373
• gnomAD v2: 2-225368456-A-G
• gnomAD v4: 2-224503739-A-G
• MyVariant Identifiers: chr2:g.225368456A>G (hg19) ; chr2:g.224503739A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503739A>G , CM000664.2:g.224503739A>G	GRCh38
NC_000002.11:g.225368456A>G , CM000664.1:g.225368456A>G	GRCh37
NC_000002.10:g.225076700A>G	NCBI36
NG_032169.1:g.86659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1290T>C MANE Select	ENSP00000264414.4:p.Arg430=
ENST00000264414.8:c.1290T>C	ENSP00000264414.4:p.Arg430=
ENST00000344951.8:c.1092T>C	ENSP00000343601.4:p.Arg364=
ENST00000409096.5:c.1218T>C	ENSP00000387200.1:p.Arg406=
ENST00000409777.5:c.1218T>C	ENSP00000386525.1:p.Arg406=
ENST00000481135.1:n.586T>C
ENST00000617432.4:c.14T>C	ENSP00000477851.1:p.Val5Ala
NM_001257197.1:c.1092T>C	NP_001244126.1:p.Arg364=
NM_001257198.1:c.1308T>C	NP_001244127.1:p.Arg436=
NM_003590.4:c.1290T>C	NP_003581.1:p.Arg430=
XM_006712800.2:c.1257T>C	XP_006712863.2:p.Arg419=
XM_011511994.1:c.1143T>C	XP_011510296.1:p.Arg381=
XM_011511995.1:c.1248T>C	XP_011510297.1:p.Arg416=
XM_011511996.1:c.1098T>C	XP_011510298.1:p.Arg366=
XM_011511997.1:c.990T>C	XP_011510299.1:p.Arg330=
XM_011511994.3:c.1143T>C	XP_011510296.1:p.Arg381=
XM_011511996.2:c.1098T>C	XP_011510298.1:p.Arg366=
NM_003590.5:c.1290T>C MANE Select	NP_003581.1:p.Arg430=
NM_001257198.2:c.1308T>C	NP_001244127.1:p.Arg436=
NM_001257197.2:c.1092T>C	NP_001244126.1:p.Arg364=