Canonical Allele Identifier: CA259799
Gene: EFTUD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44859132A>C , CM000679.2:g.44859132A>C GRCh38
NC_000017.10:g.42936500A>C , CM000679.1:g.42936500A>C GRCh37
NC_000017.9:g.40292026A>C NCBI36
NG_032674.1:g.45494T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426333.7:c.1910T>G MANE Select ENSP00000392094.1:p.Leu637Arg
ENST00000402521.7:c.1805T>G ENSP00000385873.2:p.Leu602Arg
ENST00000426333.6:c.1910T>G ENSP00000392094.1:p.Leu637Arg
ENST00000586276.5:n.1572T>G
ENST00000590367.5:n.1638T>G
ENST00000590977.5:n.518T>G
ENST00000591382.5:c.1910T>G ENSP00000467805.1:p.Leu637Arg
ENST00000592576.5:c.1880T>G ENSP00000465058.1:p.Leu627Arg
NM_001142605.1:c.1805T>G NP_001136077.1:p.Leu602Arg
NM_001258353.1:c.1910T>G NP_001245282.1:p.Leu637Arg
NM_001258354.1:c.1880T>G NP_001245283.1:p.Leu627Arg
NM_004247.3:c.1910T>G NP_004238.3:p.Leu637Arg
XR_934602.1:n.1995T>G
XR_934602.3:n.1991T>G
NM_004247.4:c.1910T>G MANE Select NP_004238.3:p.Leu637Arg
NM_001142605.2:c.1805T>G NP_001136077.1:p.Leu602Arg
NM_001258353.2:c.1910T>G NP_001245282.1:p.Leu637Arg
NM_001258354.2:c.1880T>G NP_001245283.1:p.Leu627Arg
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