Canonical Allele Identifier: CA399821644
Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426124
dbSNP Id: rs1085307457

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44879555C>A , CM000679.2:g.44879555C>A GRCh38
NC_000017.10:g.42956923C>A , CM000679.1:g.42956923C>A GRCh37
NC_000017.9:g.40312449C>A NCBI36
NG_032674.1:g.25071G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000426333.7:c.702+1G>T MANE Select ENSP00000392094.1:n.702+1G>T
ENST00000402521.7:c.597+1G>T ENSP00000385873.2:n.597+1G>T
ENST00000426333.6:c.702+1G>T ENSP00000392094.1:n.702+1G>T
ENST00000587957.1:n.35+1G>T
ENST00000588374.1:c.512+1G>T ENSP00000467639.1:n.512+1G>T
ENST00000589475.1:n.161G>T
ENST00000591382.5:c.702+1G>T ENSP00000467805.1:n.702+1G>T
ENST00000592576.5:c.672+1G>T ENSP00000465058.1:n.672+1G>T
ENST00000593200.5:n.323+1G>T
NM_001142605.1:c.597+1G>T NP_001136077.1:n.597+1G>T
NM_001258353.1:c.702+1G>T NP_001245282.1:n.702+1G>T
NM_001258354.1:c.672+1G>T NP_001245283.1:n.672+1G>T
NM_004247.3:c.702+1G>T NP_004238.3:n.702+1G>T
XR_934602.1:n.787+1G>T
XR_934602.3:n.783+1G>T
NM_004247.4:c.702+1G>T MANE Select NP_004238.3:n.702+1G>T
NM_001142605.2:c.597+1G>T NP_001136077.1:n.597+1G>T
NM_001258353.2:c.702+1G>T NP_001245282.1:n.702+1G>T
NM_001258354.2:c.672+1G>T NP_001245283.1:n.672+1G>T