Canonical Allele Identifier: CA355381570

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183854467T>G (hg19) ; chr3:g.184136679T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136679T>G , CM000665.2:g.184136679T>G	GRCh38
NC_000003.11:g.183854467T>G , CM000665.1:g.183854467T>G	GRCh37
NC_000003.10:g.185337161T>G	NCBI36
NG_015826.1:g.6658T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.263T>G	ENSP00000414775.1:p.Val88Gly
ENST00000465218.3:n.286T>G
ENST00000468748.7:n.246T>G
ENST00000471832.2:c.*257T>G	ENSP00000497786.1:n.*257T>G
ENST00000484154.2:n.1T>G
ENST00000491008.6:n.128T>G
ENST00000492226.2:n.260T>G
ENST00000647636.1:c.263T>G	ENSP00000497505.1:p.Val88Gly
ENST00000647909.1:c.263T>G	ENSP00000498164.1:p.Val88Gly
ENST00000648145.1:c.31T>G
ENST00000648189.1:c.13T>G
ENST00000648256.1:c.212T>G	ENSP00000497356.1:p.Val71Gly
ENST00000648314.1:c.263T>G	ENSP00000496920.1:p.Val88Gly
ENST00000648599.1:c.263T>G	ENSP00000497159.1:p.Val88Gly
ENST00000648630.1:c.257T>G	ENSP00000497887.1:p.Val86Gly
ENST00000648682.1:c.263T>G	ENSP00000498185.1:p.Val88Gly
ENST00000648882.1:c.*89T>G	ENSP00000497603.1:n.*89T>G
ENST00000648890.1:c.263T>G	ENSP00000497503.1:p.Val88Gly
ENST00000648915.2:c.263T>G MANE Select	ENSP00000497160.1:p.Val88Gly
ENST00000649688.1:c.263T>G	ENSP00000497097.1:p.Val88Gly
ENST00000649814.1:n.312T>G
ENST00000650244.1:c.408T>G	ENSP00000497227.1:n.408T>G
ENST00000650270.1:c.130T>G
ENST00000273783.7:c.263T>G	ENSP00000273783.3:p.Val88Gly
ENST00000432569.1:c.263T>G	ENSP00000414775.1:p.Val88Gly
ENST00000432982.5:c.245+4T>G
ENST00000444495.1:c.263T>G	ENSP00000409142.1:p.Val88Gly
ENST00000471832.1:n.194T>G
ENST00000481054.5:n.264T>G
ENST00000491144.5:n.611T>G
ENST00000498831.1:n.119T>G
NM_003907.2:c.263T>G	NP_003898.2:p.Val88Gly
XR_924208.1:n.1214T>G
NM_003907.3:c.263T>G MANE Select	NP_003898.2:p.Val88Gly
XM_011513266.3:c.-639T>G	XP_011511568.1:n.-639T>G
XR_001740352.2:n.626T>G
XR_001740353.2:n.626T>G
XR_924208.2:n.626T>G