Canonical Allele Identifier: CA355387343

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859836C>A (hg19) ; chr3:g.184142048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142048C>A , CM000665.2:g.184142048C>A	GRCh38
NC_000003.11:g.183859836C>A , CM000665.1:g.183859836C>A	GRCh37
NC_000003.10:g.185342530C>A	NCBI36
NG_015826.1:g.12027C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1303C>A
ENST00000468748.7:n.1523C>A
ENST00000484154.2:n.1510C>A
ENST00000491008.6:n.2028C>A
ENST00000492226.2:n.1547C>A
ENST00000492773.6:c.1034C>A
ENST00000647636.1:c.*129C>A	ENSP00000497505.1:n.*129C>A
ENST00000647909.1:c.1304C>A	ENSP00000498164.1:p.Pro435Gln
ENST00000648145.1:c.1052C>A
ENST00000648189.1:c.1098C>A
ENST00000648256.1:c.1252C>A	ENSP00000497356.1:n.1252C>A
ENST00000648314.1:c.*399C>A	ENSP00000496920.1:n.*399C>A
ENST00000648599.1:c.*563C>A	ENSP00000497159.1:n.*563C>A
ENST00000648630.1:c.1159C>A	ENSP00000497887.1:n.1159C>A
ENST00000648682.1:c.*120C>A	ENSP00000498185.1:n.*120C>A
ENST00000648882.1:c.*1106C>A	ENSP00000497603.1:n.*1106C>A
ENST00000648890.1:c.1280C>A	ENSP00000497503.1:p.Pro427Gln
ENST00000648915.2:c.1280C>A MANE Select	ENSP00000497160.1:p.Pro427Gln
ENST00000649545.1:c.701C>A
ENST00000649688.1:c.*573C>A	ENSP00000497097.1:n.*573C>A
ENST00000649814.1:n.1329C>A
ENST00000650270.1:c.1147C>A
ENST00000273783.7:c.1280C>A	ENSP00000273783.3:p.Pro427Gln
ENST00000432982.5:c.246-189C>A
ENST00000444495.1:c.1280C>A	ENSP00000409142.1:p.Pro427Gln
ENST00000481054.5:n.1374C>A
ENST00000491144.5:n.1784C>A
ENST00000492773.5:n.163C>A
NM_003907.2:c.1280C>A	NP_003898.2:p.Pro427Gln
XM_011513265.1:c.530C>A	XP_011511567.1:p.Pro177Gln
XM_011513266.1:c.443C>A	XP_011511568.1:p.Pro148Gln
XR_924208.1:n.2231C>A
NM_003907.3:c.1280C>A MANE Select	NP_003898.2:p.Pro427Gln
XM_011513266.3:c.443C>A	XP_011511568.1:p.Pro148Gln
XR_001740352.2:n.1643C>A
XR_001740353.2:n.1643C>A
XR_924208.2:n.1643C>A