Canonical Allele Identifier: CA355387194

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859812T>G (hg19) ; chr3:g.184142024T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142024T>G , CM000665.2:g.184142024T>G	GRCh38
NC_000003.11:g.183859812T>G , CM000665.1:g.183859812T>G	GRCh37
NC_000003.10:g.185342506T>G	NCBI36
NG_015826.1:g.12003T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1279T>G
ENST00000468748.7:n.1499T>G
ENST00000484154.2:n.1486T>G
ENST00000491008.6:n.2004T>G
ENST00000492226.2:n.1523T>G
ENST00000492773.6:c.1010T>G
ENST00000647636.1:c.*105T>G	ENSP00000497505.1:n.*105T>G
ENST00000647909.1:c.1280T>G	ENSP00000498164.1:p.Val427Gly
ENST00000648145.1:c.1028T>G
ENST00000648189.1:c.1074T>G
ENST00000648256.1:c.1228T>G	ENSP00000497356.1:n.1228T>G
ENST00000648314.1:c.*375T>G	ENSP00000496920.1:n.*375T>G
ENST00000648599.1:c.*539T>G	ENSP00000497159.1:n.*539T>G
ENST00000648630.1:c.1135T>G	ENSP00000497887.1:p.Ser379Ala
ENST00000648682.1:c.*96T>G	ENSP00000498185.1:n.*96T>G
ENST00000648882.1:c.*1082T>G	ENSP00000497603.1:n.*1082T>G
ENST00000648890.1:c.1256T>G	ENSP00000497503.1:p.Val419Gly
ENST00000648915.2:c.1256T>G MANE Select	ENSP00000497160.1:p.Val419Gly
ENST00000649545.1:c.677T>G
ENST00000649688.1:c.*549T>G	ENSP00000497097.1:n.*549T>G
ENST00000649814.1:n.1305T>G
ENST00000650270.1:c.1123T>G
ENST00000273783.7:c.1256T>G	ENSP00000273783.3:p.Val419Gly
ENST00000432982.5:c.246-213T>G
ENST00000444495.1:c.1256T>G	ENSP00000409142.1:p.Val419Gly
ENST00000479833.1:n.457T>G
ENST00000481054.5:n.1350T>G
ENST00000491144.5:n.1760T>G
ENST00000492773.5:n.139T>G
NM_003907.2:c.1256T>G	NP_003898.2:p.Val419Gly
XM_011513265.1:c.506T>G	XP_011511567.1:p.Val169Gly
XM_011513266.1:c.419T>G	XP_011511568.1:p.Val140Gly
XR_924208.1:n.2207T>G
NM_003907.3:c.1256T>G MANE Select	NP_003898.2:p.Val419Gly
XM_011513266.3:c.419T>G	XP_011511568.1:p.Val140Gly
XR_001740352.2:n.1619T>G
XR_001740353.2:n.1619T>G
XR_924208.2:n.1619T>G