Canonical Allele Identifier: CA399816067

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42945240T>A (hg19) ; chr17:g.44867872T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867872T>A , CM000679.2:g.44867872T>A	GRCh38
NC_000017.10:g.42945240T>A , CM000679.1:g.42945240T>A	GRCh37
NC_000017.9:g.40300766T>A	NCBI36
NG_032674.1:g.36754A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.1084A>T MANE Select	ENSP00000392094.1:p.Thr362Ser
ENST00000402521.7:c.979A>T	ENSP00000385873.2:p.Thr327Ser
ENST00000426333.6:c.1084A>T	ENSP00000392094.1:p.Thr362Ser
ENST00000586654.5:n.139A>T
ENST00000590367.5:n.812A>T
ENST00000591382.5:c.1084A>T	ENSP00000467805.1:p.Thr362Ser
ENST00000591856.1:c.205A>T	ENSP00000468284.1:n.205A>T
ENST00000592576.5:c.1054A>T	ENSP00000465058.1:p.Thr352Ser
NM_001142605.1:c.979A>T	NP_001136077.1:p.Thr327Ser
NM_001258353.1:c.1084A>T	NP_001245282.1:p.Thr362Ser
NM_001258354.1:c.1054A>T	NP_001245283.1:p.Thr352Ser
NM_004247.3:c.1084A>T	NP_004238.3:p.Thr362Ser
XR_934602.1:n.1169A>T
XR_934602.3:n.1165A>T
NM_004247.4:c.1084A>T MANE Select	NP_004238.3:p.Thr362Ser
NM_001142605.2:c.979A>T	NP_001136077.1:p.Thr327Ser
NM_001258353.2:c.1084A>T	NP_001245282.1:p.Thr362Ser
NM_001258354.2:c.1054A>T	NP_001245283.1:p.Thr352Ser