Canonical Allele Identifier: CA291038483

Gene: EFTUD2

Linked Data

• ClinVar Variation Id: 1193812
• ClinVar RCV Id: RCV001556343
• dbSNP Id: rs116064629
• gnomAD v2: 17-42932191-T-C
• gnomAD v3: 17-44854823-T-C
• gnomAD v4: 17-44854823-T-C
• MyVariant Identifiers: chr17:g.42932191T>C (hg19) ; chr17:g.44854823T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854823T>C , CM000679.2:g.44854823T>C	GRCh38
NC_000017.10:g.42932191T>C , CM000679.1:g.42932191T>C	GRCh37
NC_000017.9:g.40287717T>C	NCBI36
NG_032674.1:g.49803A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2132+95A>G MANE Select	ENSP00000392094.1:n.2132+95A>G
ENST00000402521.7:c.2027+95A>G	ENSP00000385873.2:n.2027+95A>G
ENST00000426333.6:c.2132+95A>G	ENSP00000392094.1:n.2132+95A>G
ENST00000586276.5:n.1794+95A>G
ENST00000590124.5:c.134+95A>G	ENSP00000467249.1:n.134+95A>G
ENST00000590367.5:n.1860+95A>G
ENST00000590977.5:n.740+95A>G
ENST00000591382.5:c.2132+95A>G	ENSP00000467805.1:n.2132+95A>G
ENST00000592576.5:c.2102+95A>G	ENSP00000465058.1:n.2102+95A>G
NM_001142605.1:c.2027+95A>G	NP_001136077.1:n.2027+95A>G
NM_001258353.1:c.2132+95A>G	NP_001245282.1:n.2132+95A>G
NM_001258354.1:c.2102+95A>G	NP_001245283.1:n.2102+95A>G
NM_004247.3:c.2132+95A>G	NP_004238.3:n.2132+95A>G
XR_934602.1:n.2217+95A>G
XR_934602.3:n.2213+95A>G
NM_004247.4:c.2132+95A>G MANE Select	NP_004238.3:n.2132+95A>G
NM_001142605.2:c.2027+95A>G	NP_001136077.1:n.2027+95A>G
NM_001258353.2:c.2132+95A>G	NP_001245282.1:n.2132+95A>G
NM_001258354.2:c.2102+95A>G	NP_001245283.1:n.2102+95A>G