Canonical Allele Identifier: CA290991988

Gene: EFTUD2

Linked Data

• ClinVar Variation Id: 2110842
• ClinVar RCV Id: RCV003045716
• dbSNP Id: rs989683167
• MyVariant Identifiers: chr17:g.42945233C>T (hg19) ; chr17:g.44867865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44867865C>T , CM000679.2:g.44867865C>T	GRCh38
NC_000017.10:g.42945233C>T , CM000679.1:g.42945233C>T	GRCh37
NC_000017.9:g.40300759C>T	NCBI36
NG_032674.1:g.36761G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.1091G>A MANE Select	ENSP00000392094.1:p.Ser364Asn
ENST00000402521.7:c.986G>A	ENSP00000385873.2:p.Ser329Asn
ENST00000426333.6:c.1091G>A	ENSP00000392094.1:p.Ser364Asn
ENST00000586654.5:n.146G>A
ENST00000590367.5:n.819G>A
ENST00000591382.5:c.1091G>A	ENSP00000467805.1:p.Ser364Asn
ENST00000591856.1:c.212G>A	ENSP00000468284.1:n.212G>A
ENST00000592576.5:c.1061G>A	ENSP00000465058.1:p.Ser354Asn
NM_001142605.1:c.986G>A	NP_001136077.1:p.Ser329Asn
NM_001258353.1:c.1091G>A	NP_001245282.1:p.Ser364Asn
NM_001258354.1:c.1061G>A	NP_001245283.1:p.Ser354Asn
NM_004247.3:c.1091G>A	NP_004238.3:p.Ser364Asn
XR_934602.1:n.1176G>A
XR_934602.3:n.1172G>A
NM_004247.4:c.1091G>A MANE Select	NP_004238.3:p.Ser364Asn
NM_001142605.2:c.986G>A	NP_001136077.1:p.Ser329Asn
NM_001258353.2:c.1091G>A	NP_001245282.1:p.Ser364Asn
NM_001258354.2:c.1061G>A	NP_001245283.1:p.Ser354Asn