Canonical Allele Identifier: CA2261585840

Gene: EFTUD2

Linked Data

• dbSNP Id: rs2050489344

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44853287G>A , CM000679.2:g.44853287G>A	GRCh38
NC_000017.10:g.42930655G>A , CM000679.1:g.42930655G>A	GRCh37
NC_000017.9:g.40286181G>A	NCBI36
NG_032674.1:g.51339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2561+9C>T MANE Select	ENSP00000392094.1:n.2561+9C>T
ENST00000402521.7:c.2456+9C>T	ENSP00000385873.2:n.2456+9C>T
ENST00000426333.6:c.2561+9C>T	ENSP00000392094.1:n.2561+9C>T
ENST00000586276.5:n.2856+9C>T
ENST00000589769.1:c.314+230C>T
ENST00000590124.5:c.468+230C>T	ENSP00000467249.1:n.468+230C>T
ENST00000590367.5:n.2922+9C>T
ENST00000590977.5:n.1707+230C>T
ENST00000591382.5:c.2561+9C>T	ENSP00000467805.1:n.2561+9C>T
ENST00000592576.5:c.2531+9C>T	ENSP00000465058.1:n.2531+9C>T
NM_001142605.1:c.2456+9C>T	NP_001136077.1:n.2456+9C>T
NM_001258353.1:c.2561+9C>T	NP_001245282.1:n.2561+9C>T
NM_001258354.1:c.2531+9C>T	NP_001245283.1:n.2531+9C>T
NM_004247.3:c.2561+9C>T	NP_004238.3:n.2561+9C>T
XR_934602.1:n.2551+230C>T
XR_934602.3:n.2547+230C>T
NM_004247.4:c.2561+9C>T MANE Select	NP_004238.3:n.2561+9C>T
NM_001142605.2:c.2456+9C>T	NP_001136077.1:n.2456+9C>T
NM_001258353.2:c.2561+9C>T	NP_001245282.1:n.2561+9C>T
NM_001258354.2:c.2531+9C>T	NP_001245283.1:n.2531+9C>T