Canonical Allele Identifier: CA399816069

Gene: EFTUD2

Linked Data

• ClinVar Variation Id: 2963648
• ClinVar RCV Id: RCV003825286
• dbSNP Id: rs1192253324
• gnomAD v2: 17-42945240-T-C
• gnomAD v3: 17-44867872-T-C
• gnomAD v4: 17-44867872-T-C
• MyVariant Identifiers: chr17:g.42945240T>C (hg19) ; chr17:g.44867872T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867872T>C , CM000679.2:g.44867872T>C	GRCh38
NC_000017.10:g.42945240T>C , CM000679.1:g.42945240T>C	GRCh37
NC_000017.9:g.40300766T>C	NCBI36
NG_032674.1:g.36754A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.1084A>G MANE Select	ENSP00000392094.1:p.Thr362Ala
ENST00000402521.7:c.979A>G	ENSP00000385873.2:p.Thr327Ala
ENST00000426333.6:c.1084A>G	ENSP00000392094.1:p.Thr362Ala
ENST00000586654.5:n.139A>G
ENST00000590367.5:n.812A>G
ENST00000591382.5:c.1084A>G	ENSP00000467805.1:p.Thr362Ala
ENST00000591856.1:c.205A>G	ENSP00000468284.1:n.205A>G
ENST00000592576.5:c.1054A>G	ENSP00000465058.1:p.Thr352Ala
NM_001142605.1:c.979A>G	NP_001136077.1:p.Thr327Ala
NM_001258353.1:c.1084A>G	NP_001245282.1:p.Thr362Ala
NM_001258354.1:c.1054A>G	NP_001245283.1:p.Thr352Ala
NM_004247.3:c.1084A>G	NP_004238.3:p.Thr362Ala
XR_934602.1:n.1169A>G
XR_934602.3:n.1165A>G
NM_004247.4:c.1084A>G MANE Select	NP_004238.3:p.Thr362Ala
NM_001142605.2:c.979A>G	NP_001136077.1:p.Thr327Ala
NM_001258353.2:c.1084A>G	NP_001245282.1:p.Thr362Ala
NM_001258354.2:c.1054A>G	NP_001245283.1:p.Thr352Ala