Canonical Allele Identifier: CA2638259478

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44855013-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44855013A>C , CM000679.2:g.44855013A>C	GRCh38
NC_000017.10:g.42932381A>C , CM000679.1:g.42932381A>C	GRCh37
NC_000017.9:g.40287907A>C	NCBI36
NG_032674.1:g.49613T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.2046-9T>G MANE Select	ENSP00000392094.1:n.2046-9T>G
ENST00000402521.7:c.1941-9T>G	ENSP00000385873.2:n.1941-9T>G
ENST00000426333.6:c.2046-9T>G	ENSP00000392094.1:n.2046-9T>G
ENST00000586276.5:n.1708-9T>G
ENST00000588340.1:n.566-9T>G
ENST00000590124.5:c.48-9T>G	ENSP00000467249.1:n.48-9T>G
ENST00000590367.5:n.1774-9T>G
ENST00000590977.5:n.654-9T>G
ENST00000591382.5:c.2046-9T>G	ENSP00000467805.1:n.2046-9T>G
ENST00000592576.5:c.2016-9T>G	ENSP00000465058.1:n.2016-9T>G
NM_001142605.1:c.1941-9T>G	NP_001136077.1:n.1941-9T>G
NM_001258353.1:c.2046-9T>G	NP_001245282.1:n.2046-9T>G
NM_001258354.1:c.2016-9T>G	NP_001245283.1:n.2016-9T>G
NM_004247.3:c.2046-9T>G	NP_004238.3:n.2046-9T>G
XR_934602.1:n.2131-9T>G
XR_934602.3:n.2127-9T>G
NM_004247.4:c.2046-9T>G MANE Select	NP_004238.3:n.2046-9T>G
NM_001142605.2:c.1941-9T>G	NP_001136077.1:n.1941-9T>G
NM_001258353.2:c.2046-9T>G	NP_001245282.1:n.2046-9T>G
NM_001258354.2:c.2016-9T>G	NP_001245283.1:n.2016-9T>G