Canonical Allele Identifier: CA399816055

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44867868-C-A
• MyVariant Identifiers: chr17:g.42945236C>A (hg19) ; chr17:g.44867868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867868C>A , CM000679.2:g.44867868C>A	GRCh38
NC_000017.10:g.42945236C>A , CM000679.1:g.42945236C>A	GRCh37
NC_000017.9:g.40300762C>A	NCBI36
NG_032674.1:g.36758G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.1088G>T MANE Select	ENSP00000392094.1:p.Ser363Ile
ENST00000402521.7:c.983G>T	ENSP00000385873.2:p.Ser328Ile
ENST00000426333.6:c.1088G>T	ENSP00000392094.1:p.Ser363Ile
ENST00000586654.5:n.143G>T
ENST00000590367.5:n.816G>T
ENST00000591382.5:c.1088G>T	ENSP00000467805.1:p.Ser363Ile
ENST00000591856.1:c.209G>T	ENSP00000468284.1:n.209G>T
ENST00000592576.5:c.1058G>T	ENSP00000465058.1:p.Ser353Ile
NM_001142605.1:c.983G>T	NP_001136077.1:p.Ser328Ile
NM_001258353.1:c.1088G>T	NP_001245282.1:p.Ser363Ile
NM_001258354.1:c.1058G>T	NP_001245283.1:p.Ser353Ile
NM_004247.3:c.1088G>T	NP_004238.3:p.Ser363Ile
XR_934602.1:n.1173G>T
XR_934602.3:n.1169G>T
NM_004247.4:c.1088G>T MANE Select	NP_004238.3:p.Ser363Ile
NM_001142605.2:c.983G>T	NP_001136077.1:p.Ser328Ile
NM_001258353.2:c.1088G>T	NP_001245282.1:p.Ser363Ile
NM_001258354.2:c.1058G>T	NP_001245283.1:p.Ser353Ile