Canonical Allele Identifier: CA2261599553
Community Standard Title: NM_004247.4(EFTUD2):c.422G= (p.Gly141=)
Gene: EFTUD2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004247.4:c.422G= MANE Select NP_004238.3:p.Gly141=
ENST00000426333.7:c.422G= MANE Select ENSP00000392094.1:p.Gly141=
NM_001142605.1:c.317G= NP_001136077.1:p.Gly106=
NM_001142605.2:c.317G= NP_001136077.1:p.Gly106=
NM_001258353.1:c.422G= NP_001245282.1:p.Gly141=
NM_001258353.2:c.422G= NP_001245282.1:p.Gly141=
NM_001258354.1:c.422G= NP_001245283.1:p.Gly141=
NM_001258354.2:c.422G= NP_001245283.1:p.Gly141=
NM_004247.3:c.422G= NP_004238.3:p.Gly141=
ENST00000402521.7:c.317G= ENSP00000385873.2:p.Gly106=
ENST00000426333.6:c.422G= ENSP00000392094.1:p.Gly141=
ENST00000588374.1:c.232G= ENSP00000467639.1:n.232G=
ENST00000589825.5:n.503G=
ENST00000591382.5:c.422G= ENSP00000467805.1:p.Gly141=
ENST00000592576.5:c.422G= ENSP00000465058.1:p.Gly141=
ENST00000593072.5:c.422G= ENSP00000464882.1:p.Gly141=
XR_934602.1:n.507G=
XR_934602.3:n.503G=