Canonical Allele Identifier: CA16043528

Gene: EFTUD2

Linked Data

• ClinVar Variation Id: 374152
• ClinVar RCV Id: RCV000415160
• dbSNP Id: rs1057518932
• MyVariant Identifiers: chr17:g.42932371T>A (hg19) ; chr17:g.44855003T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44855003T>A , CM000679.2:g.44855003T>A	GRCh38
NC_000017.10:g.42932371T>A , CM000679.1:g.42932371T>A	GRCh37
NC_000017.9:g.40287897T>A	NCBI36
NG_032674.1:g.49623A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426333.7:c.2047A>T MANE Select	ENSP00000392094.1:p.Asn683Tyr
ENST00000402521.7:c.1942A>T	ENSP00000385873.2:p.Asn648Tyr
ENST00000426333.6:c.2047A>T	ENSP00000392094.1:p.Asn683Tyr
ENST00000586276.5:n.1709A>T
ENST00000588340.1:n.567A>T
ENST00000590124.5:c.49A>T	ENSP00000467249.1:p.Asn17Tyr
ENST00000590367.5:n.1775A>T
ENST00000590977.5:n.655A>T
ENST00000591382.5:c.2047A>T	ENSP00000467805.1:p.Asn683Tyr
ENST00000592576.5:c.2017A>T	ENSP00000465058.1:p.Asn673Tyr
NM_001142605.1:c.1942A>T	NP_001136077.1:p.Asn648Tyr
NM_001258353.1:c.2047A>T	NP_001245282.1:p.Asn683Tyr
NM_001258354.1:c.2017A>T	NP_001245283.1:p.Asn673Tyr
NM_004247.3:c.2047A>T	NP_004238.3:p.Asn683Tyr
XR_934602.1:n.2132A>T
XR_934602.3:n.2128A>T
NM_004247.4:c.2047A>T MANE Select	NP_004238.3:p.Asn683Tyr
NM_001142605.2:c.1942A>T	NP_001136077.1:p.Asn648Tyr
NM_001258353.2:c.2047A>T	NP_001245282.1:p.Asn683Tyr
NM_001258354.2:c.2017A>T	NP_001245283.1:p.Asn673Tyr