Canonical Allele Identifier: CA355386850

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859764C>A (hg19) ; chr3:g.184141976C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141976C>A , CM000665.2:g.184141976C>A	GRCh38
NC_000003.11:g.183859764C>A , CM000665.1:g.183859764C>A	GRCh37
NC_000003.10:g.185342458C>A	NCBI36
NG_015826.1:g.11955C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1231C>A
ENST00000468748.7:n.1451C>A
ENST00000484154.2:n.1438C>A
ENST00000491008.6:n.1956C>A
ENST00000492226.2:n.1475C>A
ENST00000492773.6:c.962C>A
ENST00000647636.1:c.*57C>A	ENSP00000497505.1:n.*57C>A
ENST00000647909.1:c.1232C>A	ENSP00000498164.1:p.Ala411Glu
ENST00000648145.1:c.980C>A
ENST00000648189.1:c.1026C>A
ENST00000648256.1:c.1180C>A	ENSP00000497356.1:n.1180C>A
ENST00000648314.1:c.*327C>A	ENSP00000496920.1:n.*327C>A
ENST00000648599.1:c.*491C>A	ENSP00000497159.1:n.*491C>A
ENST00000648630.1:c.1087C>A	ENSP00000497887.1:p.Arg363=
ENST00000648682.1:c.*48C>A	ENSP00000498185.1:n.*48C>A
ENST00000648882.1:c.*1034C>A	ENSP00000497603.1:n.*1034C>A
ENST00000648890.1:c.1208C>A	ENSP00000497503.1:p.Ala403Glu
ENST00000648915.2:c.1208C>A MANE Select	ENSP00000497160.1:p.Ala403Glu
ENST00000649545.1:c.629C>A
ENST00000649688.1:c.*501C>A	ENSP00000497097.1:n.*501C>A
ENST00000649814.1:n.1257C>A
ENST00000650270.1:c.1075C>A
ENST00000273783.7:c.1208C>A	ENSP00000273783.3:p.Ala403Glu
ENST00000432982.5:c.246-261C>A
ENST00000444495.1:c.1208C>A	ENSP00000409142.1:p.Ala403Glu
ENST00000479833.1:n.409C>A
ENST00000481054.5:n.1302C>A
ENST00000491144.5:n.1712C>A
ENST00000492773.5:n.91C>A
NM_003907.2:c.1208C>A	NP_003898.2:p.Ala403Glu
XM_011513265.1:c.458C>A	XP_011511567.1:p.Ala153Glu
XM_011513266.1:c.371C>A	XP_011511568.1:p.Ala124Glu
XR_924208.1:n.2159C>A
NM_003907.3:c.1208C>A MANE Select	NP_003898.2:p.Ala403Glu
XM_011513266.3:c.371C>A	XP_011511568.1:p.Ala124Glu
XR_001740352.2:n.1571C>A
XR_001740353.2:n.1571C>A
XR_924208.2:n.1571C>A