Canonical Allele Identifier: CA8607884

Gene: EFTUD2

Linked Data

• dbSNP Id: rs771999554
• ExAC: 17:42945295 CA / C
• gnomAD v2: 17-42945295-CA-C
• gnomAD v3: 17-44867927-CA-C
• gnomAD v4: 17-44867927-CA-C
• MyVariant Identifiers: chr17:g.42945296del (hg19) ; chr17:g.44867928del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867928del , CM000679.2:g.44867928del	GRCh38
NC_000017.10:g.42945296del , CM000679.1:g.42945296del	GRCh37
NC_000017.9:g.40300822del	NCBI36
NG_032674.1:g.36698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.1059-31del MANE Select	ENSP00000392094.1:n.1059-31del
ENST00000402521.7:c.954-31del	ENSP00000385873.2:n.954-31del
ENST00000426333.6:c.1059-31del	ENSP00000392094.1:n.1059-31del
ENST00000586654.5:n.114-31del
ENST00000590367.5:n.787-31del
ENST00000591382.5:c.1059-31del	ENSP00000467805.1:n.1059-31del
ENST00000591856.1:c.180-31del	ENSP00000468284.1:n.180-31del
ENST00000592576.5:c.1029-31del	ENSP00000465058.1:n.1029-31del
NM_001142605.1:c.954-31del	NP_001136077.1:n.954-31del
NM_001258353.1:c.1059-31del	NP_001245282.1:n.1059-31del
NM_001258354.1:c.1029-31del	NP_001245283.1:n.1029-31del
NM_004247.3:c.1059-31del	NP_004238.3:n.1059-31del
XR_934602.1:n.1144-31del
XR_934602.3:n.1140-31del
NM_004247.4:c.1059-31del MANE Select	NP_004238.3:n.1059-31del
NM_001142605.2:c.954-31del	NP_001136077.1:n.954-31del
NM_001258353.2:c.1059-31del	NP_001245282.1:n.1059-31del
NM_001258354.2:c.1029-31del	NP_001245283.1:n.1029-31del