Canonical Allele Identifier: CA355383450

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857905C>T (hg19) ; chr3:g.184140117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140117C>T , CM000665.2:g.184140117C>T	GRCh38
NC_000003.11:g.183857905C>T , CM000665.1:g.183857905C>T	GRCh37
NC_000003.10:g.185340599C>T	NCBI36
NG_015826.1:g.10096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.826C>T
ENST00000468748.7:n.786C>T
ENST00000484154.2:n.1387-1808C>T
ENST00000491008.6:n.1551C>T
ENST00000492226.2:n.800C>T
ENST00000492773.6:c.557C>T
ENST00000647636.1:c.803C>T	ENSP00000497505.1:p.Thr268Ile
ENST00000647909.1:c.827C>T	ENSP00000498164.1:p.Thr276Ile
ENST00000648145.1:c.571C>T
ENST00000648189.1:c.553C>T
ENST00000648256.1:c.775C>T	ENSP00000497356.1:p.Leu259Phe
ENST00000648314.1:c.803C>T	ENSP00000496920.1:p.Thr268Ile
ENST00000648599.1:c.*86C>T	ENSP00000497159.1:n.*86C>T
ENST00000648630.1:c.797C>T	ENSP00000497887.1:p.Thr266Ile
ENST00000648682.1:c.803C>T	ENSP00000498185.1:p.Thr268Ile
ENST00000648882.1:c.*629C>T	ENSP00000497603.1:n.*629C>T
ENST00000648890.1:c.803C>T	ENSP00000497503.1:p.Thr268Ile
ENST00000648915.2:c.803C>T MANE Select	ENSP00000497160.1:p.Thr268Ile
ENST00000649545.1:c.537C>T
ENST00000649688.1:c.*86C>T	ENSP00000497097.1:n.*86C>T
ENST00000649814.1:n.852C>T
ENST00000650270.1:c.670C>T
ENST00000273783.7:c.803C>T	ENSP00000273783.3:p.Thr268Ile
ENST00000432982.5:c.246-2120C>T
ENST00000444495.1:c.803C>T	ENSP00000409142.1:p.Thr268Ile
ENST00000468748.5:n.256C>T
ENST00000479833.1:n.119C>T
ENST00000481054.5:n.897C>T
ENST00000491008.5:n.767C>T
ENST00000491144.5:n.1243C>T
NM_003907.2:c.803C>T	NP_003898.2:p.Thr268Ile
XM_011513265.1:c.53C>T	XP_011511567.1:p.Thr18Ile
XR_924208.1:n.1754C>T
NM_003907.3:c.803C>T MANE Select	NP_003898.2:p.Thr268Ile
XM_011513266.3:c.-99C>T	XP_011511568.1:n.-99C>T
XR_001740352.2:n.1166C>T
XR_001740353.2:n.1166C>T
XR_924208.2:n.1166C>T