Canonical Allele Identifier: CA10612934
Gene: CUL3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.224474156T>A
GRCh37 chr2:g.225338873T>A
gnomAD v2:
2:225338873 T / A
gnomAD v3:
2:224474156 T / A
gnomAD v4:
chr2-224474156-T-A
Joint Max Group AF 0.00050778 (AFR)
Genomes Max Group AF 0.00043802 (AFR)
Exomes Max Group AF 0.00047018 (AFR)
ClinVar Allele:
285598
ClinVar RCV:
RCV000393904
RCV001140228
ClinVar Variation:
334625
dbSNP:
192166927
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.224474156T>A , CM000664.2:g.224474156T>A GRCh38
NC_000002.11:g.225338873T>A , CM000664.1:g.225338873T>A GRCh37
NC_000002.10:g.225047117T>A NCBI36
NG_032169.1:g.116242A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264414.9:c.*89A>T MANE Select ENSP00000264414.4:n.*89A>T
ENST00000264414.8:c.*89A>T ENSP00000264414.4:n.*89A>T
ENST00000344951.8:c.*89A>T ENSP00000343601.4:n.*89A>T
ENST00000409096.5:c.*89A>T ENSP00000387200.1:n.*89A>T
ENST00000409777.5:c.*89A>T ENSP00000386525.1:n.*89A>T
ENST00000451538.1:c.423A>T
ENST00000454323.1:c.442A>T ENSP00000400558.1:n.442A>T
ENST00000497715.1:n.2146A>T
ENST00000617432.4:c.*89A>T ENSP00000477851.1:n.*89A>T
NM_001257197.1:c.*89A>T NP_001244126.1:n.*89A>T
NM_001257198.1:c.*89A>T NP_001244127.1:n.*89A>T
NM_003590.4:c.*89A>T NP_003581.1:n.*89A>T
XM_006712800.2:c.*89A>T XP_006712863.2:n.*89A>T
XM_011511994.1:c.*89A>T XP_011510296.1:n.*89A>T
XM_011511995.1:c.*89A>T XP_011510297.1:n.*89A>T
XM_011511996.1:c.*89A>T XP_011510298.1:n.*89A>T
XM_011511997.1:c.*89A>T XP_011510299.1:n.*89A>T
XM_011511994.3:c.*89A>T XP_011510296.1:n.*89A>T
XM_011511996.2:c.*89A>T XP_011510298.1:n.*89A>T
NM_003590.5:c.*89A>T MANE Select NP_003581.1:n.*89A>T
NM_001257198.2:c.*89A>T NP_001244127.1:n.*89A>T
NM_001257197.2:c.*89A>T NP_001244126.1:n.*89A>T
Search 100 bp 5'
Search 100 bp 3'