Canonical Allele Identifier: CA2140016

Gene: CUL3

Linked Data

• dbSNP Id: rs752131041
• ExAC: 2:225368399 G / A
• gnomAD v2: 2-225368399-G-A
• gnomAD v4: 2-224503682-G-A
• MyVariant Identifiers: chr2:g.225368399G>A (hg19) ; chr2:g.224503682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503682G>A , CM000664.2:g.224503682G>A	GRCh38
NC_000002.11:g.225368399G>A , CM000664.1:g.225368399G>A	GRCh37
NC_000002.10:g.225076643G>A	NCBI36
NG_032169.1:g.86716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1347C>T MANE Select	ENSP00000264414.4:p.Asp449=
ENST00000264414.8:c.1347C>T	ENSP00000264414.4:p.Asp449=
ENST00000344951.8:c.1149C>T	ENSP00000343601.4:p.Asp383=
ENST00000409096.5:c.1275C>T	ENSP00000387200.1:p.Asp425=
ENST00000409777.5:c.1275C>T	ENSP00000386525.1:p.Asp425=
ENST00000481135.1:n.643C>T
ENST00000617432.4:c.71C>T	ENSP00000477851.1:p.Thr24Ile
NM_001257197.1:c.1149C>T	NP_001244126.1:p.Asp383=
NM_001257198.1:c.1365C>T	NP_001244127.1:p.Asp455=
NM_003590.4:c.1347C>T	NP_003581.1:p.Asp449=
XM_006712800.2:c.1314C>T	XP_006712863.2:p.Asp438=
XM_011511994.1:c.1200C>T	XP_011510296.1:p.Asp400=
XM_011511995.1:c.1305C>T	XP_011510297.1:p.Asp435=
XM_011511996.1:c.1155C>T	XP_011510298.1:p.Asp385=
XM_011511997.1:c.1047C>T	XP_011510299.1:p.Asp349=
XM_011511994.3:c.1200C>T	XP_011510296.1:p.Asp400=
XM_011511996.2:c.1155C>T	XP_011510298.1:p.Asp385=
NM_003590.5:c.1347C>T MANE Select	NP_003581.1:p.Asp449=
NM_001257198.2:c.1365C>T	NP_001244127.1:p.Asp455=
NM_001257197.2:c.1149C>T	NP_001244126.1:p.Asp383=