Canonical Allele Identifier: CA8607886

Gene: EFTUD2

Linked Data

• ClinVar Variation Id: 1255376
• ClinVar RCV Id: RCV001698592 ; RCV001661273
• dbSNP Id: rs2120276
• ExAC: 17:42945296 A / G
• gnomAD v2: 17-42945296-A-G
• gnomAD v3: 17-44867928-A-G
• gnomAD v4: 17-44867928-A-G
• MyVariant Identifiers: chr17:g.42945296A>G (hg19) ; chr17:g.44867928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867928A>G , CM000679.2:g.44867928A>G	GRCh38
NC_000017.10:g.42945296A>G , CM000679.1:g.42945296A>G	GRCh37
NC_000017.9:g.40300822A>G	NCBI36
NG_032674.1:g.36698T>C

Transcript Alleles

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