Canonical Allele Identifier: CA350827548

Gene: CUL3

Linked Data

• dbSNP Id: rs2106197251
• gnomAD v4: 2-224503763-C-T
• MyVariant Identifiers: chr2:g.225368480C>T (hg19) ; chr2:g.224503763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503763C>T , CM000664.2:g.224503763C>T	GRCh38
NC_000002.11:g.225368480C>T , CM000664.1:g.225368480C>T	GRCh37
NC_000002.10:g.225076724C>T	NCBI36
NG_032169.1:g.86635G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264414.9:c.1266G>A MANE Select	ENSP00000264414.4:p.Met422Ile
ENST00000264414.8:c.1266G>A	ENSP00000264414.4:p.Met422Ile
ENST00000344951.8:c.1068G>A	ENSP00000343601.4:p.Met356Ile
ENST00000409096.5:c.1194G>A	ENSP00000387200.1:p.Met398Ile
ENST00000409777.5:c.1194G>A	ENSP00000386525.1:p.Met398Ile
ENST00000481135.1:n.562G>A
ENST00000617432.4:c.-11G>A	ENSP00000477851.1:n.-11G>A
NM_001257197.1:c.1068G>A	NP_001244126.1:p.Met356Ile
NM_001257198.1:c.1284G>A	NP_001244127.1:p.Met428Ile
NM_003590.4:c.1266G>A	NP_003581.1:p.Met422Ile
XM_006712800.2:c.1233G>A	XP_006712863.2:p.Met411Ile
XM_011511994.1:c.1119G>A	XP_011510296.1:p.Met373Ile
XM_011511995.1:c.1224G>A	XP_011510297.1:p.Met408Ile
XM_011511996.1:c.1074G>A	XP_011510298.1:p.Met358Ile
XM_011511997.1:c.966G>A	XP_011510299.1:p.Met322Ile
XM_011511994.3:c.1119G>A	XP_011510296.1:p.Met373Ile
XM_011511996.2:c.1074G>A	XP_011510298.1:p.Met358Ile
NM_003590.5:c.1266G>A MANE Select	NP_003581.1:p.Met422Ile
NM_001257198.2:c.1284G>A	NP_001244127.1:p.Met428Ile
NM_001257197.2:c.1068G>A	NP_001244126.1:p.Met356Ile