Canonical Allele Identifier: CA984027307

Gene: EFTUD2

Linked Data

• dbSNP Id: rs2050520336
• gnomAD v3: 17-44854895-T-G
• gnomAD v4: 17-44854895-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854895T>G , CM000679.2:g.44854895T>G	GRCh38
NC_000017.10:g.42932263T>G , CM000679.1:g.42932263T>G	GRCh37
NC_000017.9:g.40287789T>G	NCBI36
NG_032674.1:g.49731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2132+23A>C MANE Select	ENSP00000392094.1:n.2132+23A>C
ENST00000402521.7:c.2027+23A>C	ENSP00000385873.2:n.2027+23A>C
ENST00000426333.6:c.2132+23A>C	ENSP00000392094.1:n.2132+23A>C
ENST00000586276.5:n.1794+23A>C
ENST00000590124.5:c.134+23A>C	ENSP00000467249.1:n.134+23A>C
ENST00000590367.5:n.1860+23A>C
ENST00000590977.5:n.740+23A>C
ENST00000591382.5:c.2132+23A>C	ENSP00000467805.1:n.2132+23A>C
ENST00000592576.5:c.2102+23A>C	ENSP00000465058.1:n.2102+23A>C
NM_001142605.1:c.2027+23A>C	NP_001136077.1:n.2027+23A>C
NM_001258353.1:c.2132+23A>C	NP_001245282.1:n.2132+23A>C
NM_001258354.1:c.2102+23A>C	NP_001245283.1:n.2102+23A>C
NM_004247.3:c.2132+23A>C	NP_004238.3:n.2132+23A>C
XR_934602.1:n.2217+23A>C
XR_934602.3:n.2213+23A>C
NM_004247.4:c.2132+23A>C MANE Select	NP_004238.3:n.2132+23A>C
NM_001142605.2:c.2027+23A>C	NP_001136077.1:n.2027+23A>C
NM_001258353.2:c.2132+23A>C	NP_001245282.1:n.2132+23A>C
NM_001258354.2:c.2102+23A>C	NP_001245283.1:n.2102+23A>C