Canonical Allele Identifier: CA16620456
Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418730
ClinVar RCV Id: RCV000487160
dbSNP Id: rs1064793395
MyVariant Identifiers: chr17:g.42963950T>C (hg19) chr17:g.44886582T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44886582T>C , CM000679.2:g.44886582T>C GRCh38
NC_000017.10:g.42963950T>C , CM000679.1:g.42963950T>C GRCh37
NC_000017.9:g.40319476T>C NCBI36
NG_032674.1:g.18044A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.271+3A>G MANE Select ENSP00000392094.1:n.271+3A>G
ENST00000402521.7:c.166+3A>G ENSP00000385873.2:n.166+3A>G
ENST00000426333.6:c.271+3A>G ENSP00000392094.1:n.271+3A>G
ENST00000588374.1:c.82-1248A>G ENSP00000467639.1:n.82-1248A>G
ENST00000589825.5:n.352+3A>G
ENST00000591382.5:c.271+3A>G ENSP00000467805.1:n.271+3A>G
ENST00000592408.5:n.482+3A>G
ENST00000592576.5:c.271+3A>G ENSP00000465058.1:n.271+3A>G
ENST00000592701.2:c.271+3A>G ENSP00000464908.1:n.271+3A>G
ENST00000593072.5:c.271+3A>G ENSP00000464882.1:n.271+3A>G
NM_001142605.1:c.166+3A>G NP_001136077.1:n.166+3A>G
NM_001258353.1:c.271+3A>G NP_001245282.1:n.271+3A>G
NM_001258354.1:c.271+3A>G NP_001245283.1:n.271+3A>G
NM_004247.3:c.271+3A>G NP_004238.3:n.271+3A>G
XR_934602.1:n.356+3A>G
XR_934602.3:n.352+3A>G
NM_004247.4:c.271+3A>G MANE Select NP_004238.3:n.271+3A>G
NM_001142605.2:c.166+3A>G NP_001136077.1:n.166+3A>G
NM_001258353.2:c.271+3A>G NP_001245282.1:n.271+3A>G
NM_001258354.2:c.271+3A>G NP_001245283.1:n.271+3A>G
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