Canonical Allele Identifier: CA355386692

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859736A>G (hg19) ; chr3:g.184141948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141948A>G , CM000665.2:g.184141948A>G	GRCh38
NC_000003.11:g.183859736A>G , CM000665.1:g.183859736A>G	GRCh37
NC_000003.10:g.185342430A>G	NCBI36
NG_015826.1:g.11927A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1203A>G
ENST00000468748.7:n.1423A>G
ENST00000484154.2:n.1410A>G
ENST00000491008.6:n.1928A>G
ENST00000492226.2:n.1447A>G
ENST00000492773.6:c.934A>G
ENST00000647636.1:c.*29A>G	ENSP00000497505.1:n.*29A>G
ENST00000647909.1:c.1204A>G	ENSP00000498164.1:p.Thr402Ala
ENST00000648145.1:c.952A>G
ENST00000648189.1:c.998A>G
ENST00000648256.1:c.1152A>G	ENSP00000497356.1:n.1152A>G
ENST00000648314.1:c.*299A>G	ENSP00000496920.1:n.*299A>G
ENST00000648599.1:c.*463A>G	ENSP00000497159.1:n.*463A>G
ENST00000648630.1:c.1059A>G	ENSP00000497887.1:p.Arg353=
ENST00000648682.1:c.*20A>G	ENSP00000498185.1:n.*20A>G
ENST00000648882.1:c.*1006A>G	ENSP00000497603.1:n.*1006A>G
ENST00000648890.1:c.1180A>G	ENSP00000497503.1:p.Thr394Ala
ENST00000648915.2:c.1180A>G MANE Select	ENSP00000497160.1:p.Thr394Ala
ENST00000649545.1:c.601A>G
ENST00000649688.1:c.*473A>G	ENSP00000497097.1:n.*473A>G
ENST00000649814.1:n.1229A>G
ENST00000650270.1:c.1047A>G
ENST00000273783.7:c.1180A>G	ENSP00000273783.3:p.Thr394Ala
ENST00000432982.5:c.246-289A>G
ENST00000444495.1:c.1180A>G	ENSP00000409142.1:p.Thr394Ala
ENST00000479833.1:n.381A>G
ENST00000481054.5:n.1274A>G
ENST00000491144.5:n.1684A>G
ENST00000492773.5:n.63A>G
NM_003907.2:c.1180A>G	NP_003898.2:p.Thr394Ala
XM_011513265.1:c.430A>G	XP_011511567.1:p.Thr144Ala
XM_011513266.1:c.343A>G	XP_011511568.1:p.Thr115Ala
XR_924208.1:n.2131A>G
NM_003907.3:c.1180A>G MANE Select	NP_003898.2:p.Thr394Ala
XM_011513266.3:c.343A>G	XP_011511568.1:p.Thr115Ala
XR_001740352.2:n.1543A>G
XR_001740353.2:n.1543A>G
XR_924208.2:n.1543A>G