Canonical Allele Identifier: CA399844096

Gene: EFTUD2

Linked Data

• MyVariant Identifiers: chr17:g.42932372C>A (hg19) ; chr17:g.44855004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44855004C>A , CM000679.2:g.44855004C>A	GRCh38
NC_000017.10:g.42932372C>A , CM000679.1:g.42932372C>A	GRCh37
NC_000017.9:g.40287898C>A	NCBI36
NG_032674.1:g.49622G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426333.7:c.2046G>T MANE Select	ENSP00000392094.1:p.Lys682Asn
ENST00000402521.7:c.1941G>T	ENSP00000385873.2:p.Lys647Asn
ENST00000426333.6:c.2046G>T	ENSP00000392094.1:p.Lys682Asn
ENST00000586276.5:n.1708G>T
ENST00000588340.1:n.566G>T
ENST00000590124.5:c.48G>T	ENSP00000467249.1:p.Lys16Asn
ENST00000590367.5:n.1774G>T
ENST00000590977.5:n.654G>T
ENST00000591382.5:c.2046G>T	ENSP00000467805.1:p.Lys682Asn
ENST00000592576.5:c.2016G>T	ENSP00000465058.1:p.Lys672Asn
NM_001142605.1:c.1941G>T	NP_001136077.1:p.Lys647Asn
NM_001258353.1:c.2046G>T	NP_001245282.1:p.Lys682Asn
NM_001258354.1:c.2016G>T	NP_001245283.1:p.Lys672Asn
NM_004247.3:c.2046G>T	NP_004238.3:p.Lys682Asn
XR_934602.1:n.2131G>T
XR_934602.3:n.2127G>T
NM_004247.4:c.2046G>T MANE Select	NP_004238.3:p.Lys682Asn
NM_001142605.2:c.1941G>T	NP_001136077.1:p.Lys647Asn
NM_001258353.2:c.2046G>T	NP_001245282.1:p.Lys682Asn
NM_001258354.2:c.2016G>T	NP_001245283.1:p.Lys672Asn