Allele Registry

Canonical Allele Identifier: CA259797

Gene: EFTUD2 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr17:g.44851763G>A

GRCh37 chr17:g.42929131G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000023354

RCV001582495

ClinVar Variation:

30401

dbSNP:

387906878

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44851763G>A , CM000679.2:g.44851763G>A	GRCh38
NC_000017.10:g.42929131G>A , CM000679.1:g.42929131G>A	GRCh37
NC_000017.9:g.40284657G>A	NCBI36
NG_032674.1:g.52863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2770C>T MANE Select	ENSP00000392094.1:p.Gln924Ter
ENST00000402521.7:c.2665C>T	ENSP00000385873.2:p.Gln889Ter
ENST00000426333.6:c.2770C>T	ENSP00000392094.1:p.Gln924Ter
ENST00000586276.5:n.3065C>T
ENST00000589769.1:c.523C>T
ENST00000590124.5:c.523C>T	ENSP00000467249.1:p.Gln175Ter
ENST00000590367.5:n.3131C>T
ENST00000590977.5:n.1916C>T
ENST00000591382.5:c.2770C>T	ENSP00000467805.1:p.Gln924Ter
ENST00000592576.5:c.2740C>T	ENSP00000465058.1:p.Gln914Ter
NM_001142605.1:c.2665C>T	NP_001136077.1:p.Gln889Ter
NM_001258353.1:c.2770C>T	NP_001245282.1:p.Gln924Ter
NM_001258354.1:c.2740C>T	NP_001245283.1:p.Gln914Ter
NM_004247.3:c.2770C>T	NP_004238.3:p.Gln924Ter
XR_934602.1:n.2760C>T
XR_934602.3:n.2756C>T
NM_004247.4:c.2770C>T MANE Select	NP_004238.3:p.Gln924Ter
NM_001142605.2:c.2665C>T	NP_001136077.1:p.Gln889Ter
NM_001258353.2:c.2770C>T	NP_001245282.1:p.Gln924Ter
NM_001258354.2:c.2740C>T	NP_001245283.1:p.Gln914Ter

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