Canonical Allele Identifier: CA355382961

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855988T>A (hg19) ; chr3:g.184138200T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138200T>A , CM000665.2:g.184138200T>A	GRCh38
NC_000003.11:g.183855988T>A , CM000665.1:g.183855988T>A	GRCh37
NC_000003.10:g.185338682T>A	NCBI36
NG_015826.1:g.8179T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.742T>A
ENST00000468748.7:n.702T>A
ENST00000484154.2:n.1340T>A
ENST00000491008.6:n.1467T>A
ENST00000492226.2:n.716T>A
ENST00000492773.6:c.473T>A
ENST00000647636.1:c.719T>A	ENSP00000497505.1:p.Val240Asp
ENST00000647909.1:c.743T>A	ENSP00000498164.1:p.Val248Asp
ENST00000648145.1:c.487T>A
ENST00000648189.1:c.469T>A
ENST00000648256.1:c.668T>A	ENSP00000497356.1:p.Val223Asp
ENST00000648314.1:c.719T>A	ENSP00000496920.1:p.Val240Asp
ENST00000648599.1:c.719T>A	ENSP00000497159.1:p.Val240Asp
ENST00000648630.1:c.713T>A	ENSP00000497887.1:p.Val238Asp
ENST00000648682.1:c.719T>A	ENSP00000498185.1:p.Val240Asp
ENST00000648882.1:c.*545T>A	ENSP00000497603.1:n.*545T>A
ENST00000648890.1:c.719T>A	ENSP00000497503.1:p.Val240Asp
ENST00000648915.2:c.719T>A MANE Select	ENSP00000497160.1:p.Val240Asp
ENST00000649545.1:c.453T>A
ENST00000649688.1:c.719T>A	ENSP00000497097.1:p.Val240Asp
ENST00000649814.1:n.768T>A
ENST00000650270.1:c.586T>A
ENST00000273783.7:c.719T>A	ENSP00000273783.3:p.Val240Asp
ENST00000432982.5:c.245+1525T>A
ENST00000444495.1:c.719T>A	ENSP00000409142.1:p.Val240Asp
ENST00000468748.5:n.172T>A
ENST00000479833.1:n.35T>A
ENST00000481054.5:n.720T>A
ENST00000491008.5:n.683T>A
ENST00000491144.5:n.1159T>A
NM_003907.2:c.719T>A	NP_003898.2:p.Val240Asp
XR_924208.1:n.1670T>A
NM_003907.3:c.719T>A MANE Select	NP_003898.2:p.Val240Asp
XM_011513266.3:c.-183T>A	XP_011511568.1:n.-183T>A
XR_001740352.2:n.1082T>A
XR_001740353.2:n.1082T>A
XR_924208.2:n.1082T>A