Canonical Allele Identifier: CA16607293
Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379625
ClinVar RCV Id: RCV000431548 RCV000679887
dbSNP Id: rs1057520673
COSMIC: COSM4680361
MyVariant Identifiers: chr17:g.42937401G>A (hg19) chr17:g.44860033G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44860033G>A , CM000679.2:g.44860033G>A GRCh38
NC_000017.10:g.42937401G>A , CM000679.1:g.42937401G>A GRCh37
NC_000017.9:g.40292927G>A NCBI36
NG_032674.1:g.44593C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.1732C>T MANE Select ENSP00000392094.1:p.Arg578Ter
ENST00000402521.7:c.1627C>T ENSP00000385873.2:p.Arg543Ter
ENST00000426333.6:c.1732C>T ENSP00000392094.1:p.Arg578Ter
ENST00000586276.5:n.1394C>T
ENST00000590367.5:n.1460C>T
ENST00000591382.5:c.1732C>T ENSP00000467805.1:p.Arg578Ter
ENST00000592576.5:c.1702C>T ENSP00000465058.1:p.Arg568Ter
NM_001142605.1:c.1627C>T NP_001136077.1:p.Arg543Ter
NM_001258353.1:c.1732C>T NP_001245282.1:p.Arg578Ter
NM_001258354.1:c.1702C>T NP_001245283.1:p.Arg568Ter
NM_004247.3:c.1732C>T NP_004238.3:p.Arg578Ter
XR_934602.1:n.1817C>T
XR_934602.3:n.1813C>T
NM_004247.4:c.1732C>T MANE Select NP_004238.3:p.Arg578Ter
NM_001142605.2:c.1627C>T NP_001136077.1:p.Arg543Ter
NM_001258353.2:c.1732C>T NP_001245282.1:p.Arg578Ter
NM_001258354.2:c.1702C>T NP_001245283.1:p.Arg568Ter
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