Canonical Allele Identifier: CA16620453
Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423361
ClinVar RCV Id: RCV000480810
dbSNP Id: rs1064796381
MyVariant Identifiers: chr17:g.42931651G>T (hg19) chr17:g.44854283G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44854283G>T , CM000679.2:g.44854283G>T GRCh38
NC_000017.10:g.42931651G>T , CM000679.1:g.42931651G>T GRCh37
NC_000017.9:g.40287177G>T NCBI36
NG_032674.1:g.50343C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.2333C>A MANE Select ENSP00000392094.1:p.Pro778His
ENST00000402521.7:c.2228C>A ENSP00000385873.2:p.Pro743His
ENST00000426333.6:c.2333C>A ENSP00000392094.1:p.Pro778His
ENST00000586276.5:n.1995C>A
ENST00000589769.1:c.181C>A
ENST00000590124.5:c.335C>A ENSP00000467249.1:p.Pro112His
ENST00000590367.5:n.2061C>A
ENST00000590977.5:n.941C>A
ENST00000591382.5:c.2333C>A ENSP00000467805.1:p.Pro778His
ENST00000592576.5:c.2303C>A ENSP00000465058.1:p.Pro768His
NM_001142605.1:c.2228C>A NP_001136077.1:p.Pro743His
NM_001258353.1:c.2333C>A NP_001245282.1:p.Pro778His
NM_001258354.1:c.2303C>A NP_001245283.1:p.Pro768His
NM_004247.3:c.2333C>A NP_004238.3:p.Pro778His
XR_934602.1:n.2418C>A
XR_934602.3:n.2414C>A
NM_004247.4:c.2333C>A MANE Select NP_004238.3:p.Pro778His
NM_001142605.2:c.2228C>A NP_001136077.1:p.Pro743His
NM_001258353.2:c.2333C>A NP_001245282.1:p.Pro778His
NM_001258354.2:c.2303C>A NP_001245283.1:p.Pro768His
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