Canonical Allele Identifier: CA355382982

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855994A>T (hg19) ; chr3:g.184138206A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138206A>T , CM000665.2:g.184138206A>T	GRCh38
NC_000003.11:g.183855994A>T , CM000665.1:g.183855994A>T	GRCh37
NC_000003.10:g.185338688A>T	NCBI36
NG_015826.1:g.8185A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.748A>T
ENST00000468748.7:n.708A>T
ENST00000484154.2:n.1346A>T
ENST00000491008.6:n.1473A>T
ENST00000492226.2:n.722A>T
ENST00000492773.6:c.479A>T
ENST00000647636.1:c.725A>T	ENSP00000497505.1:p.Tyr242Phe
ENST00000647909.1:c.749A>T	ENSP00000498164.1:p.Tyr250Phe
ENST00000648145.1:c.493A>T
ENST00000648189.1:c.475A>T
ENST00000648256.1:c.674A>T	ENSP00000497356.1:p.Tyr225Phe
ENST00000648314.1:c.725A>T	ENSP00000496920.1:p.Tyr242Phe
ENST00000648599.1:c.725A>T	ENSP00000497159.1:p.Tyr242Phe
ENST00000648630.1:c.719A>T	ENSP00000497887.1:p.Tyr240Phe
ENST00000648682.1:c.725A>T	ENSP00000498185.1:p.Tyr242Phe
ENST00000648882.1:c.*551A>T	ENSP00000497603.1:n.*551A>T
ENST00000648890.1:c.725A>T	ENSP00000497503.1:p.Tyr242Phe
ENST00000648915.2:c.725A>T MANE Select	ENSP00000497160.1:p.Tyr242Phe
ENST00000649545.1:c.459A>T
ENST00000649688.1:c.725A>T	ENSP00000497097.1:p.Tyr242Phe
ENST00000649814.1:n.774A>T
ENST00000650270.1:c.592A>T
ENST00000273783.7:c.725A>T	ENSP00000273783.3:p.Tyr242Phe
ENST00000432982.5:c.245+1531A>T
ENST00000444495.1:c.725A>T	ENSP00000409142.1:p.Tyr242Phe
ENST00000468748.5:n.178A>T
ENST00000479833.1:n.41A>T
ENST00000481054.5:n.726A>T
ENST00000491008.5:n.689A>T
ENST00000491144.5:n.1165A>T
NM_003907.2:c.725A>T	NP_003898.2:p.Tyr242Phe
XR_924208.1:n.1676A>T
NM_003907.3:c.725A>T MANE Select	NP_003898.2:p.Tyr242Phe
XM_011513266.3:c.-177A>T	XP_011511568.1:n.-177A>T
XR_001740352.2:n.1088A>T
XR_001740353.2:n.1088A>T
XR_924208.2:n.1088A>T