Canonical Allele Identifier: CA2261597808

Gene: EFTUD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44879635T= , CM000679.2:g.44879635T=	GRCh38
NC_000017.10:g.42957003T= , CM000679.1:g.42957003T=	GRCh37
NC_000017.9:g.40312529T=	NCBI36
NG_032674.1:g.24991A=

Transcript Alleles

HGVS	Amino-acid Change
NM_004247.4:c.623A= MANE Select	NP_004238.3:p.His208=
ENST00000426333.7:c.623A= MANE Select	ENSP00000392094.1:p.His208=
NM_001142605.1:c.518A=	NP_001136077.1:p.His173=
NM_001142605.2:c.518A=	NP_001136077.1:p.His173=
NM_001258353.1:c.623A=	NP_001245282.1:p.His208=
NM_001258353.2:c.623A=	NP_001245282.1:p.His208=
NM_001258354.1:c.593A=	NP_001245283.1:p.His198=
NM_001258354.2:c.593A=	NP_001245283.1:p.His198=
NM_004247.3:c.623A=	NP_004238.3:p.His208=
ENST00000402521.7:c.518A=	ENSP00000385873.2:p.His173=
ENST00000426333.6:c.623A=	ENSP00000392094.1:p.His208=
ENST00000588374.1:c.433A=	ENSP00000467639.1:n.433A=
ENST00000589475.1:n.81A=
ENST00000591382.5:c.623A=	ENSP00000467805.1:p.His208=
ENST00000592576.5:c.593A=	ENSP00000465058.1:p.His198=
ENST00000593200.5:n.244A=
XR_934602.1:n.708A=
XR_934602.3:n.704A=