Allele Registry

Canonical Allele Identifier: CA10575561

Gene: EFTUD2 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr17:g.44853361G>C

GRCh37 chr17:g.42930729G>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000024338

ClinVar Variation:

31642

dbSNP:

879253727

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44853361G>C , CM000679.2:g.44853361G>C	GRCh38
NC_000017.10:g.42930729G>C , CM000679.1:g.42930729G>C	GRCh37
NC_000017.9:g.40286255G>C	NCBI36
NG_032674.1:g.51265C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2496C>G MANE Select	ENSP00000392094.1:p.Tyr832Ter
ENST00000402521.7:c.2391C>G	ENSP00000385873.2:p.Tyr797Ter
ENST00000426333.6:c.2496C>G	ENSP00000392094.1:p.Tyr832Ter
ENST00000586276.5:n.2791C>G
ENST00000589769.1:c.314+156C>G
ENST00000590124.5:c.468+156C>G	ENSP00000467249.1:n.468+156C>G
ENST00000590367.5:n.2857C>G
ENST00000590977.5:n.1707+156C>G
ENST00000591382.5:c.2496C>G	ENSP00000467805.1:p.Tyr832Ter
ENST00000592576.5:c.2466C>G	ENSP00000465058.1:p.Tyr822Ter
NM_001142605.1:c.2391C>G	NP_001136077.1:p.Tyr797Ter
NM_001258353.1:c.2496C>G	NP_001245282.1:p.Tyr832Ter
NM_001258354.1:c.2466C>G	NP_001245283.1:p.Tyr822Ter
NM_004247.3:c.2496C>G	NP_004238.3:p.Tyr832Ter
XR_934602.1:n.2551+156C>G
XR_934602.3:n.2547+156C>G
NM_004247.4:c.2496C>G MANE Select	NP_004238.3:p.Tyr832Ter
NM_001142605.2:c.2391C>G	NP_001136077.1:p.Tyr797Ter
NM_001258353.2:c.2496C>G	NP_001245282.1:p.Tyr832Ter
NM_001258354.2:c.2466C>G	NP_001245283.1:p.Tyr822Ter

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