Canonical Allele Identifier: CA16607685
Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 384588
ClinVar RCV Id: RCV000428632
dbSNP Id: rs1057522002

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44883653C>T , CM000679.2:g.44883653C>T GRCh38
NC_000017.10:g.42961021C>T , CM000679.1:g.42961021C>T GRCh37
NC_000017.9:g.40316547C>T NCBI36
NG_032674.1:g.20973G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.422G>A MANE Select ENSP00000392094.1:p.Gly141Asp
ENST00000402521.7:c.317G>A ENSP00000385873.2:p.Gly106Asp
ENST00000426333.6:c.422G>A ENSP00000392094.1:p.Gly141Asp
ENST00000588374.1:c.232G>A ENSP00000467639.1:n.232G>A
ENST00000589825.5:n.503G>A
ENST00000591382.5:c.422G>A ENSP00000467805.1:p.Gly141Asp
ENST00000592576.5:c.422G>A ENSP00000465058.1:p.Gly141Asp
ENST00000593072.5:c.422G>A ENSP00000464882.1:p.Gly141Asp
NM_001142605.1:c.317G>A NP_001136077.1:p.Gly106Asp
NM_001258353.1:c.422G>A NP_001245282.1:p.Gly141Asp
NM_001258354.1:c.422G>A NP_001245283.1:p.Gly141Asp
NM_004247.3:c.422G>A NP_004238.3:p.Gly141Asp
XR_934602.1:n.507G>A
XR_934602.3:n.503G>A
NM_004247.4:c.422G>A MANE Select NP_004238.3:p.Gly141Asp
NM_001142605.2:c.317G>A NP_001136077.1:p.Gly106Asp
NM_001258353.2:c.422G>A NP_001245282.1:p.Gly141Asp
NM_001258354.2:c.422G>A NP_001245283.1:p.Gly141Asp