Canonical Allele Identifier: CA291038435

Gene: EFTUD2

Linked Data

• dbSNP Id: rs899992378
• gnomAD v3: 17-44854817-CAT-C
• gnomAD v4: 17-44854817-CAT-C
• MyVariant Identifiers: chr17:g.42932186_42932187del (hg19) ; chr17:g.44854818_44854819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44854819_44854820del , CM000679.2:g.44854819_44854820del	GRCh38
NC_000017.10:g.42932187_42932188del , CM000679.1:g.42932187_42932188del	GRCh37
NC_000017.9:g.40287713_40287714del	NCBI36
NG_032674.1:g.49807_49808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2132+99_2132+100del MANE Select	ENSP00000392094.1:n.2132+99_2132+100del
ENST00000402521.7:c.2027+99_2027+100del	ENSP00000385873.2:n.2027+99_2027+100del
ENST00000426333.6:c.2132+99_2132+100del	ENSP00000392094.1:n.2132+99_2132+100del
ENST00000586276.5:n.1794+99_1794+100del
ENST00000590124.5:c.134+99_134+100del	ENSP00000467249.1:n.134+99_134+100del
ENST00000590367.5:n.1860+99_1860+100del
ENST00000590977.5:n.740+99_740+100del
ENST00000591382.5:c.2132+99_2132+100del	ENSP00000467805.1:n.2132+99_2132+100del
ENST00000592576.5:c.2102+99_2102+100del	ENSP00000465058.1:n.2102+99_2102+100del
NM_001142605.1:c.2027+99_2027+100del	NP_001136077.1:n.2027+99_2027+100del
NM_001258353.1:c.2132+99_2132+100del	NP_001245282.1:n.2132+99_2132+100del
NM_001258354.1:c.2102+99_2102+100del	NP_001245283.1:n.2102+99_2102+100del
NM_004247.3:c.2132+99_2132+100del	NP_004238.3:n.2132+99_2132+100del
XR_934602.1:n.2217+99_2217+100del
XR_934602.3:n.2213+99_2213+100del
NM_004247.4:c.2132+99_2132+100del MANE Select	NP_004238.3:n.2132+99_2132+100del
NM_001142605.2:c.2027+99_2027+100del	NP_001136077.1:n.2027+99_2027+100del
NM_001258353.2:c.2132+99_2132+100del	NP_001245282.1:n.2132+99_2132+100del
NM_001258354.2:c.2102+99_2102+100del	NP_001245283.1:n.2102+99_2102+100del