Canonical Allele Identifier: CA8607588

Gene: EFTUD2

Linked Data

• ClinVar Variation Id: 2881591
• ClinVar RCV Id: RCV003708168
• dbSNP Id: rs751168355
• ExAC: 17:42932363 G / A
• gnomAD v2: 17-42932363-G-A
• gnomAD v4: 17-44854995-G-A
• MyVariant Identifiers: chr17:g.42932363G>A (hg19) ; chr17:g.44854995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854995G>A , CM000679.2:g.44854995G>A	GRCh38
NC_000017.10:g.42932363G>A , CM000679.1:g.42932363G>A	GRCh37
NC_000017.9:g.40287889G>A	NCBI36
NG_032674.1:g.49631C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2055C>T MANE Select	ENSP00000392094.1:p.Ile685=
ENST00000402521.7:c.1950C>T	ENSP00000385873.2:p.Ile650=
ENST00000426333.6:c.2055C>T	ENSP00000392094.1:p.Ile685=
ENST00000586276.5:n.1717C>T
ENST00000588340.1:n.575C>T
ENST00000590124.5:c.57C>T	ENSP00000467249.1:p.Ile19=
ENST00000590367.5:n.1783C>T
ENST00000590977.5:n.663C>T
ENST00000591382.5:c.2055C>T	ENSP00000467805.1:p.Ile685=
ENST00000592576.5:c.2025C>T	ENSP00000465058.1:p.Ile675=
NM_001142605.1:c.1950C>T	NP_001136077.1:p.Ile650=
NM_001258353.1:c.2055C>T	NP_001245282.1:p.Ile685=
NM_001258354.1:c.2025C>T	NP_001245283.1:p.Ile675=
NM_004247.3:c.2055C>T	NP_004238.3:p.Ile685=
XR_934602.1:n.2140C>T
XR_934602.3:n.2136C>T
NM_004247.4:c.2055C>T MANE Select	NP_004238.3:p.Ile685=
NM_001142605.2:c.1950C>T	NP_001136077.1:p.Ile650=
NM_001258353.2:c.2055C>T	NP_001245282.1:p.Ile685=
NM_001258354.2:c.2025C>T	NP_001245283.1:p.Ile675=