Canonical Allele Identifier: CA2576293719

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44867725-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867725A>G , CM000679.2:g.44867725A>G	GRCh38
NC_000017.10:g.42945093A>G , CM000679.1:g.42945093A>G	GRCh37
NC_000017.9:g.40300619A>G	NCBI36
NG_032674.1:g.36901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1149+82T>C MANE Select	ENSP00000392094.1:n.1149+82T>C
ENST00000402521.7:c.1044+82T>C	ENSP00000385873.2:n.1044+82T>C
ENST00000426333.6:c.1149+82T>C	ENSP00000392094.1:n.1149+82T>C
ENST00000586654.5:n.204+82T>C
ENST00000590367.5:n.877+82T>C
ENST00000591382.5:c.1149+82T>C	ENSP00000467805.1:n.1149+82T>C
ENST00000591856.1:c.270+82T>C	ENSP00000468284.1:n.270+82T>C
ENST00000592576.5:c.1119+82T>C	ENSP00000465058.1:n.1119+82T>C
NM_001142605.1:c.1044+82T>C	NP_001136077.1:n.1044+82T>C
NM_001258353.1:c.1149+82T>C	NP_001245282.1:n.1149+82T>C
NM_001258354.1:c.1119+82T>C	NP_001245283.1:n.1119+82T>C
NM_004247.3:c.1149+82T>C	NP_004238.3:n.1149+82T>C
XR_934602.1:n.1234+82T>C
XR_934602.3:n.1230+82T>C
NM_004247.4:c.1149+82T>C MANE Select	NP_004238.3:n.1149+82T>C
NM_001142605.2:c.1044+82T>C	NP_001136077.1:n.1044+82T>C
NM_001258353.2:c.1149+82T>C	NP_001245282.1:n.1149+82T>C
NM_001258354.2:c.1119+82T>C	NP_001245283.1:n.1119+82T>C