Canonical Allele Identifier: CA355383334

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857881T>G (hg19) ; chr3:g.184140093T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140093T>G , CM000665.2:g.184140093T>G	GRCh38
NC_000003.11:g.183857881T>G , CM000665.1:g.183857881T>G	GRCh37
NC_000003.10:g.185340575T>G	NCBI36
NG_015826.1:g.10072T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.802T>G
ENST00000468748.7:n.762T>G
ENST00000484154.2:n.1387-1832T>G
ENST00000491008.6:n.1527T>G
ENST00000492226.2:n.776T>G
ENST00000492773.6:c.533T>G
ENST00000647636.1:c.779T>G	ENSP00000497505.1:p.Phe260Cys
ENST00000647909.1:c.803T>G	ENSP00000498164.1:p.Phe268Cys
ENST00000648145.1:c.547T>G
ENST00000648189.1:c.529T>G
ENST00000648256.1:c.751T>G	ENSP00000497356.1:p.Leu251Val
ENST00000648314.1:c.779T>G	ENSP00000496920.1:p.Phe260Cys
ENST00000648599.1:c.*62T>G	ENSP00000497159.1:n.*62T>G
ENST00000648630.1:c.773T>G	ENSP00000497887.1:p.Phe258Cys
ENST00000648682.1:c.779T>G	ENSP00000498185.1:p.Phe260Cys
ENST00000648882.1:c.*605T>G	ENSP00000497603.1:n.*605T>G
ENST00000648890.1:c.779T>G	ENSP00000497503.1:p.Phe260Cys
ENST00000648915.2:c.779T>G MANE Select	ENSP00000497160.1:p.Phe260Cys
ENST00000649545.1:c.513T>G
ENST00000649688.1:c.*62T>G	ENSP00000497097.1:n.*62T>G
ENST00000649814.1:n.828T>G
ENST00000650270.1:c.646T>G
ENST00000273783.7:c.779T>G	ENSP00000273783.3:p.Phe260Cys
ENST00000432982.5:c.246-2144T>G
ENST00000444495.1:c.779T>G	ENSP00000409142.1:p.Phe260Cys
ENST00000468748.5:n.232T>G
ENST00000479833.1:n.95T>G
ENST00000481054.5:n.873T>G
ENST00000491008.5:n.743T>G
ENST00000491144.5:n.1219T>G
NM_003907.2:c.779T>G	NP_003898.2:p.Phe260Cys
XM_011513265.1:c.29T>G	XP_011511567.1:p.Phe10Cys
XR_924208.1:n.1730T>G
NM_003907.3:c.779T>G MANE Select	NP_003898.2:p.Phe260Cys
XM_011513266.3:c.-123T>G	XP_011511568.1:n.-123T>G
XR_001740352.2:n.1142T>G
XR_001740353.2:n.1142T>G
XR_924208.2:n.1142T>G