Canonical Allele Identifier: CA355383421

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857899A>T (hg19) ; chr3:g.184140111A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140111A>T , CM000665.2:g.184140111A>T	GRCh38
NC_000003.11:g.183857899A>T , CM000665.1:g.183857899A>T	GRCh37
NC_000003.10:g.185340593A>T	NCBI36
NG_015826.1:g.10090A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.820A>T
ENST00000468748.7:n.780A>T
ENST00000484154.2:n.1387-1814A>T
ENST00000491008.6:n.1545A>T
ENST00000492226.2:n.794A>T
ENST00000492773.6:c.551A>T
ENST00000647636.1:c.797A>T	ENSP00000497505.1:p.Tyr266Phe
ENST00000647909.1:c.821A>T	ENSP00000498164.1:p.Tyr274Phe
ENST00000648145.1:c.565A>T
ENST00000648189.1:c.547A>T
ENST00000648256.1:c.769A>T	ENSP00000497356.1:p.Thr257Ser
ENST00000648314.1:c.797A>T	ENSP00000496920.1:p.Tyr266Phe
ENST00000648599.1:c.*80A>T	ENSP00000497159.1:n.*80A>T
ENST00000648630.1:c.791A>T	ENSP00000497887.1:p.Tyr264Phe
ENST00000648682.1:c.797A>T	ENSP00000498185.1:p.Tyr266Phe
ENST00000648882.1:c.*623A>T	ENSP00000497603.1:n.*623A>T
ENST00000648890.1:c.797A>T	ENSP00000497503.1:p.Tyr266Phe
ENST00000648915.2:c.797A>T MANE Select	ENSP00000497160.1:p.Tyr266Phe
ENST00000649545.1:c.531A>T
ENST00000649688.1:c.*80A>T	ENSP00000497097.1:n.*80A>T
ENST00000649814.1:n.846A>T
ENST00000650270.1:c.664A>T
ENST00000273783.7:c.797A>T	ENSP00000273783.3:p.Tyr266Phe
ENST00000432982.5:c.246-2126A>T
ENST00000444495.1:c.797A>T	ENSP00000409142.1:p.Tyr266Phe
ENST00000468748.5:n.250A>T
ENST00000479833.1:n.113A>T
ENST00000481054.5:n.891A>T
ENST00000491008.5:n.761A>T
ENST00000491144.5:n.1237A>T
NM_003907.2:c.797A>T	NP_003898.2:p.Tyr266Phe
XM_011513265.1:c.47A>T	XP_011511567.1:p.Tyr16Phe
XR_924208.1:n.1748A>T
NM_003907.3:c.797A>T MANE Select	NP_003898.2:p.Tyr266Phe
XM_011513266.3:c.-105A>T	XP_011511568.1:n.-105A>T
XR_001740352.2:n.1160A>T
XR_001740353.2:n.1160A>T
XR_924208.2:n.1160A>T