Canonical Allele Identifier: CA399826208

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42963963C>G (hg19) ; chr17:g.44886595C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44886595C>G , CM000679.2:g.44886595C>G	GRCh38
NC_000017.10:g.42963963C>G , CM000679.1:g.42963963C>G	GRCh37
NC_000017.9:g.40319489C>G	NCBI36
NG_032674.1:g.18031G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.261G>C MANE Select	ENSP00000392094.1:p.Gln87His
ENST00000402521.7:c.156G>C	ENSP00000385873.2:p.Gln52His
ENST00000426333.6:c.261G>C	ENSP00000392094.1:p.Gln87His
ENST00000588374.1:c.82-1261G>C	ENSP00000467639.1:n.82-1261G>C
ENST00000589825.5:n.342G>C
ENST00000591382.5:c.261G>C	ENSP00000467805.1:p.Gln87His
ENST00000592408.5:n.472G>C
ENST00000592576.5:c.261G>C	ENSP00000465058.1:p.Gln87His
ENST00000592701.2:c.261G>C	ENSP00000464908.1:p.Gln87His
ENST00000593072.5:c.261G>C	ENSP00000464882.1:p.Gln87His
NM_001142605.1:c.156G>C	NP_001136077.1:p.Gln52His
NM_001258353.1:c.261G>C	NP_001245282.1:p.Gln87His
NM_001258354.1:c.261G>C	NP_001245283.1:p.Gln87His
NM_004247.3:c.261G>C	NP_004238.3:p.Gln87His
XR_934602.1:n.346G>C
XR_934602.3:n.342G>C
NM_004247.4:c.261G>C MANE Select	NP_004238.3:p.Gln87His
NM_001142605.2:c.156G>C	NP_001136077.1:p.Gln52His
NM_001258353.2:c.261G>C	NP_001245282.1:p.Gln87His
NM_001258354.2:c.261G>C	NP_001245283.1:p.Gln87His