Canonical Allele Identifier: CA2733873856

Gene: EFTUD2

Linked Data

• dbSNP Id: rs2145439358

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44855004_44855005insTTCTTATTAGGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTT , CM000679.2:g.44855004_44855005insTTCTTATTAGGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTT	GRCh38
NC_000017.10:g.42932372_42932373insTTCTTATTAGGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTT , CM000679.1:g.42932372_42932373insTTCTTATTAGGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTT	GRCh37
NC_000017.9:g.40287898_40287899insTTCTTATTAGGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTT	NCBI36
NG_032674.1:g.49621_49622insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.2046-1_2046insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA MANE Select	ENSP00000392094.1:n.2046-1_2046insAAACATC...
ENST00000402521.7:c.1941-1_1941insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	ENSP00000385873.2:n.1941-1_1941insAAACATC...
ENST00000426333.6:c.2046-1_2046insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	ENSP00000392094.1:n.2046-1_2046insAAACATC...
ENST00000586276.5:n.1708-1_1708insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA
ENST00000588340.1:n.566-1_566insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA
ENST00000590124.5:c.48-1_48insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	ENSP00000467249.1:n.48-1_48insAAACATCCTCC...
ENST00000590367.5:n.1774-1_1774insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA
ENST00000590977.5:n.654-1_654insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA
ENST00000591382.5:c.2046-1_2046insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	ENSP00000467805.1:n.2046-1_2046insAAACATC...
ENST00000592576.5:c.2016-1_2016insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	ENSP00000465058.1:n.2016-1_2016insAAACATC...
NM_001142605.1:c.1941-1_1941insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	NP_001136077.1:n.1941-1_1941insAAACATCCTC...
NM_001258353.1:c.2046-1_2046insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	NP_001245282.1:n.2046-1_2046insAAACATCCTC...
NM_001258354.1:c.2016-1_2016insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	NP_001245283.1:n.2016-1_2016insAAACATCCTC...
NM_004247.3:c.2046-1_2046insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	NP_004238.3:n.2046-1_2046insAAACATCCTCCCT...
XR_934602.1:n.2131-1_2131insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA
XR_934602.3:n.2127-1_2127insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA
NM_004247.4:c.2046-1_2046insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA MANE Select	NP_004238.3:n.2046-1_2046insAAACATCCTCCCT...
NM_001142605.2:c.1941-1_1941insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	NP_001136077.1:n.1941-1_1941insAAACATCCTC...
NM_001258353.2:c.2046-1_2046insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	NP_001245282.1:n.2046-1_2046insAAACATCCTC...
NM_001258354.2:c.2016-1_2016insAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAATAAGAA	NP_001245283.1:n.2016-1_2016insAAACATCCTC...