Canonical Allele Identifier: CA16620452
Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424276
ClinVar RCV Id: RCV000483043
dbSNP Id: rs1064796893
MyVariant Identifiers: chr17:g.42930884C>T (hg19) chr17:g.44853516C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44853516C>T , CM000679.2:g.44853516C>T GRCh38
NC_000017.10:g.42930884C>T , CM000679.1:g.42930884C>T GRCh37
NC_000017.9:g.40286410C>T NCBI36
NG_032674.1:g.51110G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.2466+1G>A MANE Select ENSP00000392094.1:n.2466+1G>A
ENST00000402521.7:c.2361+1G>A ENSP00000385873.2:n.2361+1G>A
ENST00000426333.6:c.2466+1G>A ENSP00000392094.1:n.2466+1G>A
ENST00000586276.5:n.2761+1G>A
ENST00000589769.1:c.314+1G>A
ENST00000590124.5:c.468+1G>A ENSP00000467249.1:n.468+1G>A
ENST00000590367.5:n.2827+1G>A
ENST00000590977.5:n.1707+1G>A
ENST00000591382.5:c.2466+1G>A ENSP00000467805.1:n.2466+1G>A
ENST00000592576.5:c.2436+1G>A ENSP00000465058.1:n.2436+1G>A
NM_001142605.1:c.2361+1G>A NP_001136077.1:n.2361+1G>A
NM_001258353.1:c.2466+1G>A NP_001245282.1:n.2466+1G>A
NM_001258354.1:c.2436+1G>A NP_001245283.1:n.2436+1G>A
NM_004247.3:c.2466+1G>A NP_004238.3:n.2466+1G>A
XR_934602.1:n.2551+1G>A
XR_934602.3:n.2547+1G>A
NM_004247.4:c.2466+1G>A MANE Select NP_004238.3:n.2466+1G>A
NM_001142605.2:c.2361+1G>A NP_001136077.1:n.2361+1G>A
NM_001258353.2:c.2466+1G>A NP_001245282.1:n.2466+1G>A
NM_001258354.2:c.2436+1G>A NP_001245283.1:n.2436+1G>A
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