Canonical Allele Identifier: CA355383443

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857904A>G (hg19) ; chr3:g.184140116A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140116A>G , CM000665.2:g.184140116A>G	GRCh38
NC_000003.11:g.183857904A>G , CM000665.1:g.183857904A>G	GRCh37
NC_000003.10:g.185340598A>G	NCBI36
NG_015826.1:g.10095A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.825A>G
ENST00000468748.7:n.785A>G
ENST00000484154.2:n.1387-1809A>G
ENST00000491008.6:n.1550A>G
ENST00000492226.2:n.799A>G
ENST00000492773.6:c.556A>G
ENST00000647636.1:c.802A>G	ENSP00000497505.1:p.Thr268Ala
ENST00000647909.1:c.826A>G	ENSP00000498164.1:p.Thr276Ala
ENST00000648145.1:c.570A>G
ENST00000648189.1:c.552A>G
ENST00000648256.1:c.774A>G	ENSP00000497356.1:p.Lys258=
ENST00000648314.1:c.802A>G	ENSP00000496920.1:p.Thr268Ala
ENST00000648599.1:c.*85A>G	ENSP00000497159.1:n.*85A>G
ENST00000648630.1:c.796A>G	ENSP00000497887.1:p.Thr266Ala
ENST00000648682.1:c.802A>G	ENSP00000498185.1:p.Thr268Ala
ENST00000648882.1:c.*628A>G	ENSP00000497603.1:n.*628A>G
ENST00000648890.1:c.802A>G	ENSP00000497503.1:p.Thr268Ala
ENST00000648915.2:c.802A>G MANE Select	ENSP00000497160.1:p.Thr268Ala
ENST00000649545.1:c.536A>G
ENST00000649688.1:c.*85A>G	ENSP00000497097.1:n.*85A>G
ENST00000649814.1:n.851A>G
ENST00000650270.1:c.669A>G
ENST00000273783.7:c.802A>G	ENSP00000273783.3:p.Thr268Ala
ENST00000432982.5:c.246-2121A>G
ENST00000444495.1:c.802A>G	ENSP00000409142.1:p.Thr268Ala
ENST00000468748.5:n.255A>G
ENST00000479833.1:n.118A>G
ENST00000481054.5:n.896A>G
ENST00000491008.5:n.766A>G
ENST00000491144.5:n.1242A>G
NM_003907.2:c.802A>G	NP_003898.2:p.Thr268Ala
XM_011513265.1:c.52A>G	XP_011511567.1:p.Thr18Ala
XR_924208.1:n.1753A>G
NM_003907.3:c.802A>G MANE Select	NP_003898.2:p.Thr268Ala
XM_011513266.3:c.-100A>G	XP_011511568.1:n.-100A>G
XR_001740352.2:n.1165A>G
XR_001740353.2:n.1165A>G
XR_924208.2:n.1165A>G