Allele Registry

Canonical Allele Identifier: CA276960

Gene: EFTUD2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.44863770_44863771del

GRCh37 chr17:g.42941138_42941139del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000192370

ClinVar Variation:

210915

dbSNP:

797045551

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44863770_44863771del , CM000679.2:g.44863770_44863771del	GRCh38
NC_000017.10:g.42941138_42941139del , CM000679.1:g.42941138_42941139del	GRCh37
NC_000017.9:g.40296664_40296665del	NCBI36
NG_032674.1:g.40855_40856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1297_1298del MANE Select	ENSP00000392094.1:p.Met433ValfsTer17
ENST00000402521.7:c.1192_1193del	ENSP00000385873.2:p.Met398ValfsTer17
ENST00000426333.6:c.1297_1298del	ENSP00000392094.1:p.Met433ValfsTer17
ENST00000585616.5:n.175_176del
ENST00000585794.5:n.315_316del
ENST00000586654.5:n.352_353del
ENST00000587914.1:n.292_293del
ENST00000590367.5:n.1025_1026del
ENST00000591382.5:c.1297_1298del	ENSP00000467805.1:p.Met433ValfsTer17
ENST00000592576.5:c.1267_1268del	ENSP00000465058.1:p.Met423ValfsTer17
NM_001142605.1:c.1192_1193del	NP_001136077.1:p.Met398ValfsTer17
NM_001258353.1:c.1297_1298del	NP_001245282.1:p.Met433ValfsTer17
NM_001258354.1:c.1267_1268del	NP_001245283.1:p.Met423ValfsTer17
NM_004247.3:c.1297_1298del	NP_004238.3:p.Met433ValfsTer17
XR_934602.1:n.1382_1383del
XR_934602.3:n.1378_1379del
NM_004247.4:c.1297_1298del MANE Select	NP_004238.3:p.Met433ValfsTer17
NM_001142605.2:c.1192_1193del	NP_001136077.1:p.Met398ValfsTer17
NM_001258353.2:c.1297_1298del	NP_001245282.1:p.Met433ValfsTer17
NM_001258354.2:c.1267_1268del	NP_001245283.1:p.Met423ValfsTer17

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