Canonical Allele Identifier: CA350827554

Gene: CUL3

Linked Data

• ClinVar Variation Id: 2719602
• ClinVar RCV Id: RCV003553699
• MyVariant Identifiers: chr2:g.225368482T>G (hg19) ; chr2:g.224503765T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503765T>G , CM000664.2:g.224503765T>G	GRCh38
NC_000002.11:g.225368482T>G , CM000664.1:g.225368482T>G	GRCh37
NC_000002.10:g.225076726T>G	NCBI36
NG_032169.1:g.86633A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264414.9:c.1264A>C MANE Select	ENSP00000264414.4:p.Met422Leu
ENST00000264414.8:c.1264A>C	ENSP00000264414.4:p.Met422Leu
ENST00000344951.8:c.1066A>C	ENSP00000343601.4:p.Met356Leu
ENST00000409096.5:c.1192A>C	ENSP00000387200.1:p.Met398Leu
ENST00000409777.5:c.1192A>C	ENSP00000386525.1:p.Met398Leu
ENST00000481135.1:n.560A>C
ENST00000617432.4:c.-13A>C	ENSP00000477851.1:n.-13A>C
NM_001257197.1:c.1066A>C	NP_001244126.1:p.Met356Leu
NM_001257198.1:c.1282A>C	NP_001244127.1:p.Met428Leu
NM_003590.4:c.1264A>C	NP_003581.1:p.Met422Leu
XM_006712800.2:c.1231A>C	XP_006712863.2:p.Met411Leu
XM_011511994.1:c.1117A>C	XP_011510296.1:p.Met373Leu
XM_011511995.1:c.1222A>C	XP_011510297.1:p.Met408Leu
XM_011511996.1:c.1072A>C	XP_011510298.1:p.Met358Leu
XM_011511997.1:c.964A>C	XP_011510299.1:p.Met322Leu
XM_011511994.3:c.1117A>C	XP_011510296.1:p.Met373Leu
XM_011511996.2:c.1072A>C	XP_011510298.1:p.Met358Leu
NM_003590.5:c.1264A>C MANE Select	NP_003581.1:p.Met422Leu
NM_001257198.2:c.1282A>C	NP_001244127.1:p.Met428Leu
NM_001257197.2:c.1066A>C	NP_001244126.1:p.Met356Leu