Canonical Allele Identifier: CA399816110

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42945249T>G (hg19) ; chr17:g.44867881T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867881T>G , CM000679.2:g.44867881T>G	GRCh38
NC_000017.10:g.42945249T>G , CM000679.1:g.42945249T>G	GRCh37
NC_000017.9:g.40300775T>G	NCBI36
NG_032674.1:g.36745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1075A>C MANE Select	ENSP00000392094.1:p.Lys359Gln
ENST00000402521.7:c.970A>C	ENSP00000385873.2:p.Lys324Gln
ENST00000426333.6:c.1075A>C	ENSP00000392094.1:p.Lys359Gln
ENST00000586654.5:n.130A>C
ENST00000590367.5:n.803A>C
ENST00000591382.5:c.1075A>C	ENSP00000467805.1:p.Lys359Gln
ENST00000591856.1:c.196A>C	ENSP00000468284.1:n.196A>C
ENST00000592576.5:c.1045A>C	ENSP00000465058.1:p.Lys349Gln
NM_001142605.1:c.970A>C	NP_001136077.1:p.Lys324Gln
NM_001258353.1:c.1075A>C	NP_001245282.1:p.Lys359Gln
NM_001258354.1:c.1045A>C	NP_001245283.1:p.Lys349Gln
NM_004247.3:c.1075A>C	NP_004238.3:p.Lys359Gln
XR_934602.1:n.1160A>C
XR_934602.3:n.1156A>C
NM_004247.4:c.1075A>C MANE Select	NP_004238.3:p.Lys359Gln
NM_001142605.2:c.970A>C	NP_001136077.1:p.Lys324Gln
NM_001258353.2:c.1075A>C	NP_001245282.1:p.Lys359Gln
NM_001258354.2:c.1045A>C	NP_001245283.1:p.Lys349Gln