Canonical Allele Identifier: CA399815807

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42945176T>A (hg19) ; chr17:g.44867808T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867808T>A , CM000679.2:g.44867808T>A	GRCh38
NC_000017.10:g.42945176T>A , CM000679.1:g.42945176T>A	GRCh37
NC_000017.9:g.40300702T>A	NCBI36
NG_032674.1:g.36818A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.1148A>T MANE Select	ENSP00000392094.1:p.Gln383Leu
ENST00000402521.7:c.1043A>T	ENSP00000385873.2:p.Gln348Leu
ENST00000426333.6:c.1148A>T	ENSP00000392094.1:p.Gln383Leu
ENST00000586654.5:n.203A>T
ENST00000590367.5:n.876A>T
ENST00000591382.5:c.1148A>T	ENSP00000467805.1:p.Gln383Leu
ENST00000591856.1:c.269A>T	ENSP00000468284.1:n.269A>T
ENST00000592576.5:c.1118A>T	ENSP00000465058.1:p.Gln373Leu
NM_001142605.1:c.1043A>T	NP_001136077.1:p.Gln348Leu
NM_001258353.1:c.1148A>T	NP_001245282.1:p.Gln383Leu
NM_001258354.1:c.1118A>T	NP_001245283.1:p.Gln373Leu
NM_004247.3:c.1148A>T	NP_004238.3:p.Gln383Leu
XR_934602.1:n.1233A>T
XR_934602.3:n.1229A>T
NM_004247.4:c.1148A>T MANE Select	NP_004238.3:p.Gln383Leu
NM_001142605.2:c.1043A>T	NP_001136077.1:p.Gln348Leu
NM_001258353.2:c.1148A>T	NP_001245282.1:p.Gln383Leu
NM_001258354.2:c.1118A>T	NP_001245283.1:p.Gln373Leu