Canonical Allele Identifier: CA355383414

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857898T>G (hg19) ; chr3:g.184140110T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140110T>G , CM000665.2:g.184140110T>G	GRCh38
NC_000003.11:g.183857898T>G , CM000665.1:g.183857898T>G	GRCh37
NC_000003.10:g.185340592T>G	NCBI36
NG_015826.1:g.10089T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.819T>G
ENST00000468748.7:n.779T>G
ENST00000484154.2:n.1387-1815T>G
ENST00000491008.6:n.1544T>G
ENST00000492226.2:n.793T>G
ENST00000492773.6:c.550T>G
ENST00000647636.1:c.796T>G	ENSP00000497505.1:p.Tyr266Asp
ENST00000647909.1:c.820T>G	ENSP00000498164.1:p.Tyr274Asp
ENST00000648145.1:c.564T>G
ENST00000648189.1:c.546T>G
ENST00000648256.1:c.768T>G	ENSP00000497356.1:p.Thr256=
ENST00000648314.1:c.796T>G	ENSP00000496920.1:p.Tyr266Asp
ENST00000648599.1:c.*79T>G	ENSP00000497159.1:n.*79T>G
ENST00000648630.1:c.790T>G	ENSP00000497887.1:p.Tyr264Asp
ENST00000648682.1:c.796T>G	ENSP00000498185.1:p.Tyr266Asp
ENST00000648882.1:c.*622T>G	ENSP00000497603.1:n.*622T>G
ENST00000648890.1:c.796T>G	ENSP00000497503.1:p.Tyr266Asp
ENST00000648915.2:c.796T>G MANE Select	ENSP00000497160.1:p.Tyr266Asp
ENST00000649545.1:c.530T>G
ENST00000649688.1:c.*79T>G	ENSP00000497097.1:n.*79T>G
ENST00000649814.1:n.845T>G
ENST00000650270.1:c.663T>G
ENST00000273783.7:c.796T>G	ENSP00000273783.3:p.Tyr266Asp
ENST00000432982.5:c.246-2127T>G
ENST00000444495.1:c.796T>G	ENSP00000409142.1:p.Tyr266Asp
ENST00000468748.5:n.249T>G
ENST00000479833.1:n.112T>G
ENST00000481054.5:n.890T>G
ENST00000491008.5:n.760T>G
ENST00000491144.5:n.1236T>G
NM_003907.2:c.796T>G	NP_003898.2:p.Tyr266Asp
XM_011513265.1:c.46T>G	XP_011511567.1:p.Tyr16Asp
XR_924208.1:n.1747T>G
NM_003907.3:c.796T>G MANE Select	NP_003898.2:p.Tyr266Asp
XM_011513266.3:c.-106T>G	XP_011511568.1:n.-106T>G
XR_001740352.2:n.1159T>G
XR_001740353.2:n.1159T>G
XR_924208.2:n.1159T>G