Canonical Allele Identifier: CA355389591

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183860074T>A (hg19) ; chr3:g.184142286T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142286T>A , CM000665.2:g.184142286T>A	GRCh38
NC_000003.11:g.183860074T>A , CM000665.1:g.183860074T>A	GRCh37
NC_000003.10:g.185342768T>A	NCBI36
NG_015826.1:g.12265T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1375T>A
ENST00000468748.7:n.1595T>A
ENST00000484154.2:n.1582T>A
ENST00000491008.6:n.2100T>A
ENST00000492226.2:n.1619T>A
ENST00000492773.6:c.1106T>A
ENST00000647636.1:c.*201T>A	ENSP00000497505.1:n.*201T>A
ENST00000647909.1:c.1376T>A	ENSP00000498164.1:p.Leu459Ter
ENST00000648145.1:c.1124T>A
ENST00000648189.1:c.1170T>A
ENST00000648256.1:c.1324T>A	ENSP00000497356.1:n.1324T>A
ENST00000648314.1:c.*471T>A	ENSP00000496920.1:n.*471T>A
ENST00000648599.1:c.*635T>A	ENSP00000497159.1:n.*635T>A
ENST00000648630.1:c.1231T>A	ENSP00000497887.1:n.1231T>A
ENST00000648682.1:c.*192T>A	ENSP00000498185.1:n.*192T>A
ENST00000648882.1:c.*1178T>A	ENSP00000497603.1:n.*1178T>A
ENST00000648890.1:c.1352T>A	ENSP00000497503.1:p.Leu451Ter
ENST00000648915.2:c.1352T>A MANE Select	ENSP00000497160.1:p.Leu451Ter
ENST00000649545.1:c.724-12T>A
ENST00000649688.1:c.*645T>A	ENSP00000497097.1:n.*645T>A
ENST00000649814.1:n.1401T>A
ENST00000650270.1:c.1219T>A
ENST00000273783.7:c.1352T>A	ENSP00000273783.3:p.Leu451Ter
ENST00000432982.5:c.295T>A
ENST00000444495.1:c.1352T>A	ENSP00000409142.1:p.Leu451Ter
ENST00000479250.1:n.179T>A
ENST00000481054.5:n.1446T>A
ENST00000491144.5:n.1856T>A
ENST00000492773.5:n.235T>A
NM_003907.2:c.1352T>A	NP_003898.2:p.Leu451Ter
XM_011513265.1:c.602T>A	XP_011511567.1:p.Leu201Ter
XM_011513266.1:c.515T>A	XP_011511568.1:p.Leu172Ter
XR_924208.1:n.2303T>A
NM_003907.3:c.1352T>A MANE Select	NP_003898.2:p.Leu451Ter
XM_011513266.3:c.515T>A	XP_011511568.1:p.Leu172Ter
XR_001740352.2:n.1715T>A
XR_001740353.2:n.1715T>A
XR_924208.2:n.1715T>A