Canonical Allele Identifier: CA277336
Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 210914
ClinVar RCV Id: RCV000194510
dbSNP Id: rs797045550
MyVariant Identifiers: chr17:g.42945174C>G (hg19) chr17:g.44867806C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44867806C>G , CM000679.2:g.44867806C>G GRCh38
NC_000017.10:g.42945174C>G , CM000679.1:g.42945174C>G GRCh37
NC_000017.9:g.40300700C>G NCBI36
NG_032674.1:g.36820G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.1149+1G>C MANE Select ENSP00000392094.1:n.1149+1G>C
ENST00000402521.7:c.1044+1G>C ENSP00000385873.2:n.1044+1G>C
ENST00000426333.6:c.1149+1G>C ENSP00000392094.1:n.1149+1G>C
ENST00000586654.5:n.204+1G>C
ENST00000590367.5:n.877+1G>C
ENST00000591382.5:c.1149+1G>C ENSP00000467805.1:n.1149+1G>C
ENST00000591856.1:c.270+1G>C ENSP00000468284.1:n.270+1G>C
ENST00000592576.5:c.1119+1G>C ENSP00000465058.1:n.1119+1G>C
NM_001142605.1:c.1044+1G>C NP_001136077.1:n.1044+1G>C
NM_001258353.1:c.1149+1G>C NP_001245282.1:n.1149+1G>C
NM_001258354.1:c.1119+1G>C NP_001245283.1:n.1119+1G>C
NM_004247.3:c.1149+1G>C NP_004238.3:n.1149+1G>C
XR_934602.1:n.1234+1G>C
XR_934602.3:n.1230+1G>C
NM_004247.4:c.1149+1G>C MANE Select NP_004238.3:n.1149+1G>C
NM_001142605.2:c.1044+1G>C NP_001136077.1:n.1044+1G>C
NM_001258353.2:c.1149+1G>C NP_001245282.1:n.1149+1G>C
NM_001258354.2:c.1119+1G>C NP_001245283.1:n.1119+1G>C
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