Canonical Allele Identifier: CA355386827

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859760G>A (hg19) ; chr3:g.184141972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141972G>A , CM000665.2:g.184141972G>A	GRCh38
NC_000003.11:g.183859760G>A , CM000665.1:g.183859760G>A	GRCh37
NC_000003.10:g.185342454G>A	NCBI36
NG_015826.1:g.11951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1227G>A
ENST00000468748.7:n.1447G>A
ENST00000484154.2:n.1434G>A
ENST00000491008.6:n.1952G>A
ENST00000492226.2:n.1471G>A
ENST00000492773.6:c.958G>A
ENST00000647636.1:c.*53G>A	ENSP00000497505.1:n.*53G>A
ENST00000647909.1:c.1228G>A	ENSP00000498164.1:p.Val410Met
ENST00000648145.1:c.976G>A
ENST00000648189.1:c.1022G>A
ENST00000648256.1:c.1176G>A	ENSP00000497356.1:n.1176G>A
ENST00000648314.1:c.*323G>A	ENSP00000496920.1:n.*323G>A
ENST00000648599.1:c.*487G>A	ENSP00000497159.1:n.*487G>A
ENST00000648630.1:c.1083G>A	ENSP00000497887.1:p.Glu361=
ENST00000648682.1:c.*44G>A	ENSP00000498185.1:n.*44G>A
ENST00000648882.1:c.*1030G>A	ENSP00000497603.1:n.*1030G>A
ENST00000648890.1:c.1204G>A	ENSP00000497503.1:p.Val402Met
ENST00000648915.2:c.1204G>A MANE Select	ENSP00000497160.1:p.Val402Met
ENST00000649545.1:c.625G>A
ENST00000649688.1:c.*497G>A	ENSP00000497097.1:n.*497G>A
ENST00000649814.1:n.1253G>A
ENST00000650270.1:c.1071G>A
ENST00000273783.7:c.1204G>A	ENSP00000273783.3:p.Val402Met
ENST00000432982.5:c.246-265G>A
ENST00000444495.1:c.1204G>A	ENSP00000409142.1:p.Val402Met
ENST00000479833.1:n.405G>A
ENST00000481054.5:n.1298G>A
ENST00000491144.5:n.1708G>A
ENST00000492773.5:n.87G>A
NM_003907.2:c.1204G>A	NP_003898.2:p.Val402Met
XM_011513265.1:c.454G>A	XP_011511567.1:p.Val152Met
XM_011513266.1:c.367G>A	XP_011511568.1:p.Val123Met
XR_924208.1:n.2155G>A
NM_003907.3:c.1204G>A MANE Select	NP_003898.2:p.Val402Met
XM_011513266.3:c.367G>A	XP_011511568.1:p.Val123Met
XR_001740352.2:n.1567G>A
XR_001740353.2:n.1567G>A
XR_924208.2:n.1567G>A