Canonical Allele Identifier: CA8607592

Gene: EFTUD2

Linked Data

• ClinVar Variation Id: 2956848
• ClinVar RCV Id: RCV003816559
• dbSNP Id: rs554543064
• ExAC: 17:42932392 G / T
• gnomAD v2: 17-42932392-G-T
• gnomAD v3: 17-44855024-G-T
• gnomAD v4: 17-44855024-G-T
• MyVariant Identifiers: chr17:g.42932392G>T (hg19) ; chr17:g.44855024G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44855024G>T , CM000679.2:g.44855024G>T	GRCh38
NC_000017.10:g.42932392G>T , CM000679.1:g.42932392G>T	GRCh37
NC_000017.9:g.40287918G>T	NCBI36
NG_032674.1:g.49602C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.2046-20C>A MANE Select	ENSP00000392094.1:n.2046-20C>A
ENST00000402521.7:c.1941-20C>A	ENSP00000385873.2:n.1941-20C>A
ENST00000426333.6:c.2046-20C>A	ENSP00000392094.1:n.2046-20C>A
ENST00000586276.5:n.1708-20C>A
ENST00000588340.1:n.566-20C>A
ENST00000590124.5:c.48-20C>A	ENSP00000467249.1:n.48-20C>A
ENST00000590367.5:n.1774-20C>A
ENST00000590977.5:n.654-20C>A
ENST00000591382.5:c.2046-20C>A	ENSP00000467805.1:n.2046-20C>A
ENST00000592576.5:c.2016-20C>A	ENSP00000465058.1:n.2016-20C>A
NM_001142605.1:c.1941-20C>A	NP_001136077.1:n.1941-20C>A
NM_001258353.1:c.2046-20C>A	NP_001245282.1:n.2046-20C>A
NM_001258354.1:c.2016-20C>A	NP_001245283.1:n.2016-20C>A
NM_004247.3:c.2046-20C>A	NP_004238.3:n.2046-20C>A
XR_934602.1:n.2131-20C>A
XR_934602.3:n.2127-20C>A
NM_004247.4:c.2046-20C>A MANE Select	NP_004238.3:n.2046-20C>A
NM_001142605.2:c.1941-20C>A	NP_001136077.1:n.1941-20C>A
NM_001258353.2:c.2046-20C>A	NP_001245282.1:n.2046-20C>A
NM_001258354.2:c.2016-20C>A	NP_001245283.1:n.2016-20C>A