Canonical Allele Identifier: CA399811718

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42937277G>T (hg19) ; chr17:g.44859909G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44859909G>T , CM000679.2:g.44859909G>T	GRCh38
NC_000017.10:g.42937277G>T , CM000679.1:g.42937277G>T	GRCh37
NC_000017.9:g.40292803G>T	NCBI36
NG_032674.1:g.44717C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.1856C>A MANE Select	ENSP00000392094.1:p.Thr619Asn
ENST00000402521.7:c.1751C>A	ENSP00000385873.2:p.Thr584Asn
ENST00000426333.6:c.1856C>A	ENSP00000392094.1:p.Thr619Asn
ENST00000586276.5:n.1518C>A
ENST00000590367.5:n.1584C>A
ENST00000591382.5:c.1856C>A	ENSP00000467805.1:p.Thr619Asn
ENST00000592576.5:c.1826C>A	ENSP00000465058.1:p.Thr609Asn
NM_001142605.1:c.1751C>A	NP_001136077.1:p.Thr584Asn
NM_001258353.1:c.1856C>A	NP_001245282.1:p.Thr619Asn
NM_001258354.1:c.1826C>A	NP_001245283.1:p.Thr609Asn
NM_004247.3:c.1856C>A	NP_004238.3:p.Thr619Asn
XR_934602.1:n.1941C>A
XR_934602.3:n.1937C>A
NM_004247.4:c.1856C>A MANE Select	NP_004238.3:p.Thr619Asn
NM_001142605.2:c.1751C>A	NP_001136077.1:p.Thr584Asn
NM_001258353.2:c.1856C>A	NP_001245282.1:p.Thr619Asn
NM_001258354.2:c.1826C>A	NP_001245283.1:p.Thr609Asn