Canonical Allele Identifier: CA355381799

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855446T>G (hg19) ; chr3:g.184137658T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137658T>G , CM000665.2:g.184137658T>G	GRCh38
NC_000003.11:g.183855446T>G , CM000665.1:g.183855446T>G	GRCh37
NC_000003.10:g.185338140T>G	NCBI36
NG_015826.1:g.7637T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.382T>G
ENST00000468748.7:n.342T>G
ENST00000484154.2:n.980T>G
ENST00000491008.6:n.1107T>G
ENST00000492226.2:n.356T>G
ENST00000492773.6:c.91T>G
ENST00000647636.1:c.359T>G	ENSP00000497505.1:p.Val120Gly
ENST00000647909.1:c.359T>G	ENSP00000498164.1:p.Val120Gly
ENST00000648145.1:c.127T>G
ENST00000648189.1:c.109T>G
ENST00000648256.1:c.308T>G	ENSP00000497356.1:p.Val103Gly
ENST00000648314.1:c.359T>G	ENSP00000496920.1:p.Val120Gly
ENST00000648599.1:c.359T>G	ENSP00000497159.1:p.Val120Gly
ENST00000648630.1:c.353T>G	ENSP00000497887.1:p.Val118Gly
ENST00000648682.1:c.359T>G	ENSP00000498185.1:p.Val120Gly
ENST00000648882.1:c.*185T>G	ENSP00000497603.1:n.*185T>G
ENST00000648890.1:c.359T>G	ENSP00000497503.1:p.Val120Gly
ENST00000648915.2:c.359T>G MANE Select	ENSP00000497160.1:p.Val120Gly
ENST00000649545.1:c.93T>G
ENST00000649688.1:c.359T>G	ENSP00000497097.1:p.Val120Gly
ENST00000649814.1:n.408T>G
ENST00000650244.1:c.504T>G	ENSP00000497227.1:n.504T>G
ENST00000650270.1:c.226T>G
ENST00000273783.7:c.359T>G	ENSP00000273783.3:p.Val120Gly
ENST00000432982.5:c.245+983T>G
ENST00000444495.1:c.359T>G	ENSP00000409142.1:p.Val120Gly
ENST00000481054.5:n.360T>G
ENST00000491008.5:n.323T>G
ENST00000491144.5:n.707T>G
ENST00000498831.1:n.314T>G
NM_003907.2:c.359T>G	NP_003898.2:p.Val120Gly
XR_924208.1:n.1310T>G
NM_003907.3:c.359T>G MANE Select	NP_003898.2:p.Val120Gly
XM_011513266.3:c.-543T>G	XP_011511568.1:n.-543T>G
XR_001740352.2:n.722T>G
XR_001740353.2:n.722T>G
XR_924208.2:n.722T>G