Canonical Allele Identifier: CA10614521
Gene: CUL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 334605
ClinVar RCV Id: RCV000391035 RCV001143760
dbSNP Id: rs886055689
gnomAD v3: 2-224472152-T-C
gnomAD v4: 2-224472152-T-C
MyVariant Identifiers: chr2:g.225336869T>C (hg19) chr2:g.224472152T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.224472152T>C , CM000664.2:g.224472152T>C GRCh38
NC_000002.11:g.225336869T>C , CM000664.1:g.225336869T>C GRCh37
NC_000002.10:g.225045113T>C NCBI36
NG_032169.1:g.118246A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264414.9:c.*2093A>G MANE Select ENSP00000264414.4:n.*2093A>G
ENST00000264414.8:c.*2093A>G ENSP00000264414.4:n.*2093A>G
ENST00000344951.8:c.*2093A>G ENSP00000343601.4:n.*2093A>G
NM_001257197.1:c.*2093A>G NP_001244126.1:n.*2093A>G
NM_001257198.1:c.*2093A>G NP_001244127.1:n.*2093A>G
NM_003590.4:c.*2093A>G NP_003581.1:n.*2093A>G
NM_003590.5:c.*2093A>G MANE Select NP_003581.1:n.*2093A>G
NM_001257198.2:c.*2093A>G NP_001244127.1:n.*2093A>G
NM_001257197.2:c.*2093A>G NP_001244126.1:n.*2093A>G
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