Canonical Allele Identifier: CA500312584

Gene: EFTUD2

Linked Data

• dbSNP Id: rs1184276659
• gnomAD v2: 17-42937282-G-A
• gnomAD v3: 17-44859914-G-A
• gnomAD v4: 17-44859914-G-A
• MyVariant Identifiers: chr17:g.42937282G>A (hg19) ; chr17:g.44859914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44859914G>A , CM000679.2:g.44859914G>A	GRCh38
NC_000017.10:g.42937282G>A , CM000679.1:g.42937282G>A	GRCh37
NC_000017.9:g.40292808G>A	NCBI36
NG_032674.1:g.44712C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.1851C>T MANE Select	ENSP00000392094.1:p.Leu617=
ENST00000402521.7:c.1746C>T	ENSP00000385873.2:p.Leu582=
ENST00000426333.6:c.1851C>T	ENSP00000392094.1:p.Leu617=
ENST00000586276.5:n.1513C>T
ENST00000590367.5:n.1579C>T
ENST00000591382.5:c.1851C>T	ENSP00000467805.1:p.Leu617=
ENST00000592576.5:c.1821C>T	ENSP00000465058.1:p.Leu607=
NM_001142605.1:c.1746C>T	NP_001136077.1:p.Leu582=
NM_001258353.1:c.1851C>T	NP_001245282.1:p.Leu617=
NM_001258354.1:c.1821C>T	NP_001245283.1:p.Leu607=
NM_004247.3:c.1851C>T	NP_004238.3:p.Leu617=
XR_934602.1:n.1936C>T
XR_934602.3:n.1932C>T
NM_004247.4:c.1851C>T MANE Select	NP_004238.3:p.Leu617=
NM_001142605.2:c.1746C>T	NP_001136077.1:p.Leu582=
NM_001258353.2:c.1851C>T	NP_001245282.1:p.Leu617=
NM_001258354.2:c.1821C>T	NP_001245283.1:p.Leu607=