Canonical Allele Identifier: CA355382341

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855787T>G (hg19) ; chr3:g.184137999T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137999T>G , CM000665.2:g.184137999T>G	GRCh38
NC_000003.11:g.183855787T>G , CM000665.1:g.183855787T>G	GRCh37
NC_000003.10:g.185338481T>G	NCBI36
NG_015826.1:g.7978T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.631T>G
ENST00000468748.7:n.591T>G
ENST00000484154.2:n.1229T>G
ENST00000491008.6:n.1356T>G
ENST00000492226.2:n.605T>G
ENST00000492773.6:c.340T>G
ENST00000647636.1:c.608T>G	ENSP00000497505.1:p.Val203Gly
ENST00000647909.1:c.632T>G	ENSP00000498164.1:p.Val211Gly
ENST00000648145.1:c.376T>G
ENST00000648189.1:c.358T>G
ENST00000648256.1:c.557T>G	ENSP00000497356.1:p.Val186Gly
ENST00000648314.1:c.608T>G	ENSP00000496920.1:p.Val203Gly
ENST00000648599.1:c.608T>G	ENSP00000497159.1:p.Val203Gly
ENST00000648630.1:c.602T>G	ENSP00000497887.1:p.Val201Gly
ENST00000648682.1:c.608T>G	ENSP00000498185.1:p.Val203Gly
ENST00000648882.1:c.*434T>G	ENSP00000497603.1:n.*434T>G
ENST00000648890.1:c.608T>G	ENSP00000497503.1:p.Val203Gly
ENST00000648915.2:c.608T>G MANE Select	ENSP00000497160.1:p.Val203Gly
ENST00000649545.1:c.342T>G
ENST00000649688.1:c.608T>G	ENSP00000497097.1:p.Val203Gly
ENST00000649814.1:n.657T>G
ENST00000650270.1:c.475T>G
ENST00000273783.7:c.608T>G	ENSP00000273783.3:p.Val203Gly
ENST00000432982.5:c.245+1324T>G
ENST00000444495.1:c.608T>G	ENSP00000409142.1:p.Val203Gly
ENST00000468748.5:n.61T>G
ENST00000481054.5:n.609T>G
ENST00000491008.5:n.572T>G
ENST00000491144.5:n.1048T>G
ENST00000498831.1:n.563T>G
NM_003907.2:c.608T>G	NP_003898.2:p.Val203Gly
XR_924208.1:n.1559T>G
NM_003907.3:c.608T>G MANE Select	NP_003898.2:p.Val203Gly
XM_011513266.3:c.-294T>G	XP_011511568.1:n.-294T>G
XR_001740352.2:n.971T>G
XR_001740353.2:n.971T>G
XR_924208.2:n.971T>G