Canonical Allele Identifier: CA399815802

Gene: EFTUD2

Linked Data

• gnomAD v4: 17-44867807-C-A
• COSMIC: COSM5563661
• MyVariant Identifiers: chr17:g.42945175C>A (hg19) ; chr17:g.44867807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867807C>A , CM000679.2:g.44867807C>A	GRCh38
NC_000017.10:g.42945175C>A , CM000679.1:g.42945175C>A	GRCh37
NC_000017.9:g.40300701C>A	NCBI36
NG_032674.1:g.36819G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1149G>T MANE Select	ENSP00000392094.1:p.Gln383His
ENST00000402521.7:c.1044G>T	ENSP00000385873.2:p.Gln348His
ENST00000426333.6:c.1149G>T	ENSP00000392094.1:p.Gln383His
ENST00000586654.5:n.204G>T
ENST00000590367.5:n.877G>T
ENST00000591382.5:c.1149G>T	ENSP00000467805.1:p.Gln383His
ENST00000591856.1:c.270G>T	ENSP00000468284.1:n.270G>T
ENST00000592576.5:c.1119G>T	ENSP00000465058.1:p.Gln373His
NM_001142605.1:c.1044G>T	NP_001136077.1:p.Gln348His
NM_001258353.1:c.1149G>T	NP_001245282.1:p.Gln383His
NM_001258354.1:c.1119G>T	NP_001245283.1:p.Gln373His
NM_004247.3:c.1149G>T	NP_004238.3:p.Gln383His
XR_934602.1:n.1234G>T
XR_934602.3:n.1230G>T
NM_004247.4:c.1149G>T MANE Select	NP_004238.3:p.Gln383His
NM_001142605.2:c.1044G>T	NP_001136077.1:p.Gln348His
NM_001258353.2:c.1149G>T	NP_001245282.1:p.Gln383His
NM_001258354.2:c.1119G>T	NP_001245283.1:p.Gln373His