Canonical Allele Identifier: CA355386747

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859745T>G (hg19) ; chr3:g.184141957T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141957T>G , CM000665.2:g.184141957T>G	GRCh38
NC_000003.11:g.183859745T>G , CM000665.1:g.183859745T>G	GRCh37
NC_000003.10:g.185342439T>G	NCBI36
NG_015826.1:g.11936T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1212T>G
ENST00000468748.7:n.1432T>G
ENST00000484154.2:n.1419T>G
ENST00000491008.6:n.1937T>G
ENST00000492226.2:n.1456T>G
ENST00000492773.6:c.943T>G
ENST00000647636.1:c.*38T>G	ENSP00000497505.1:n.*38T>G
ENST00000647909.1:c.1213T>G	ENSP00000498164.1:p.Trp405Gly
ENST00000648145.1:c.961T>G
ENST00000648189.1:c.1007T>G
ENST00000648256.1:c.1161T>G	ENSP00000497356.1:n.1161T>G
ENST00000648314.1:c.*308T>G	ENSP00000496920.1:n.*308T>G
ENST00000648599.1:c.*472T>G	ENSP00000497159.1:n.*472T>G
ENST00000648630.1:c.1068T>G	ENSP00000497887.1:p.Cys356Trp
ENST00000648682.1:c.*29T>G	ENSP00000498185.1:n.*29T>G
ENST00000648882.1:c.*1015T>G	ENSP00000497603.1:n.*1015T>G
ENST00000648890.1:c.1189T>G	ENSP00000497503.1:p.Trp397Gly
ENST00000648915.2:c.1189T>G MANE Select	ENSP00000497160.1:p.Trp397Gly
ENST00000649545.1:c.610T>G
ENST00000649688.1:c.*482T>G	ENSP00000497097.1:n.*482T>G
ENST00000649814.1:n.1238T>G
ENST00000650270.1:c.1056T>G
ENST00000273783.7:c.1189T>G	ENSP00000273783.3:p.Trp397Gly
ENST00000432982.5:c.246-280T>G
ENST00000444495.1:c.1189T>G	ENSP00000409142.1:p.Trp397Gly
ENST00000479833.1:n.390T>G
ENST00000481054.5:n.1283T>G
ENST00000491144.5:n.1693T>G
ENST00000492773.5:n.72T>G
NM_003907.2:c.1189T>G	NP_003898.2:p.Trp397Gly
XM_011513265.1:c.439T>G	XP_011511567.1:p.Trp147Gly
XM_011513266.1:c.352T>G	XP_011511568.1:p.Trp118Gly
XR_924208.1:n.2140T>G
NM_003907.3:c.1189T>G MANE Select	NP_003898.2:p.Trp397Gly
XM_011513266.3:c.352T>G	XP_011511568.1:p.Trp118Gly
XR_001740352.2:n.1552T>G
XR_001740353.2:n.1552T>G
XR_924208.2:n.1552T>G