Canonical Allele Identifier: CA355385248

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858308C>G (hg19) ; chr3:g.184140520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140520C>G , CM000665.2:g.184140520C>G	GRCh38
NC_000003.11:g.183858308C>G , CM000665.1:g.183858308C>G	GRCh37
NC_000003.10:g.185341002C>G	NCBI36
NG_015826.1:g.10499C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.969C>G
ENST00000468748.7:n.1189C>G
ENST00000484154.2:n.1387-1405C>G
ENST00000491008.6:n.1694C>G
ENST00000492226.2:n.1203C>G
ENST00000492773.6:c.700C>G
ENST00000647636.1:c.946C>G	ENSP00000497505.1:p.Arg316Gly
ENST00000647909.1:c.970C>G	ENSP00000498164.1:p.Arg324Gly
ENST00000648145.1:c.714C>G
ENST00000648189.1:c.760C>G
ENST00000648256.1:c.918C>G	ENSP00000497356.1:n.918C>G
ENST00000648314.1:c.*65C>G	ENSP00000496920.1:n.*65C>G
ENST00000648599.1:c.*229C>G	ENSP00000497159.1:n.*229C>G
ENST00000648630.1:c.940C>G	ENSP00000497887.1:p.Arg314Gly
ENST00000648682.1:c.946C>G	ENSP00000498185.1:p.Arg316Gly
ENST00000648882.1:c.*772C>G	ENSP00000497603.1:n.*772C>G
ENST00000648890.1:c.946C>G	ENSP00000497503.1:p.Arg316Gly
ENST00000648915.2:c.946C>G MANE Select	ENSP00000497160.1:p.Arg316Gly
ENST00000649545.1:c.577+363C>G
ENST00000649688.1:c.*229C>G	ENSP00000497097.1:n.*229C>G
ENST00000649814.1:n.995C>G
ENST00000650270.1:c.813C>G
ENST00000273783.7:c.946C>G	ENSP00000273783.3:p.Arg316Gly
ENST00000432982.5:c.246-1717C>G
ENST00000444495.1:c.946C>G	ENSP00000409142.1:p.Arg316Gly
ENST00000468748.5:n.659C>G
ENST00000479833.1:n.262C>G
ENST00000481054.5:n.1040C>G
ENST00000491144.5:n.1450C>G
ENST00000493740.1:n.176C>G
NM_003907.2:c.946C>G	NP_003898.2:p.Arg316Gly
XM_011513265.1:c.196C>G	XP_011511567.1:p.Arg66Gly
XM_011513266.1:c.109C>G	XP_011511568.1:p.Arg37Gly
XR_924208.1:n.1897C>G
NM_003907.3:c.946C>G MANE Select	NP_003898.2:p.Arg316Gly
XM_011513266.3:c.109C>G	XP_011511568.1:p.Arg37Gly
XR_001740352.2:n.1309C>G
XR_001740353.2:n.1309C>G
XR_924208.2:n.1309C>G