Canonical Allele Identifier: CA355386910

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859776A>G (hg19) ; chr3:g.184141988A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141988A>G , CM000665.2:g.184141988A>G	GRCh38
NC_000003.11:g.183859776A>G , CM000665.1:g.183859776A>G	GRCh37
NC_000003.10:g.185342470A>G	NCBI36
NG_015826.1:g.11967A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1243A>G
ENST00000468748.7:n.1463A>G
ENST00000484154.2:n.1450A>G
ENST00000491008.6:n.1968A>G
ENST00000492226.2:n.1487A>G
ENST00000492773.6:c.974A>G
ENST00000647636.1:c.*69A>G	ENSP00000497505.1:n.*69A>G
ENST00000647909.1:c.1244A>G	ENSP00000498164.1:p.Gln415Arg
ENST00000648145.1:c.992A>G
ENST00000648189.1:c.1038A>G
ENST00000648256.1:c.1192A>G	ENSP00000497356.1:n.1192A>G
ENST00000648314.1:c.*339A>G	ENSP00000496920.1:n.*339A>G
ENST00000648599.1:c.*503A>G	ENSP00000497159.1:n.*503A>G
ENST00000648630.1:c.1099A>G	ENSP00000497887.1:p.Arg367Gly
ENST00000648682.1:c.*60A>G	ENSP00000498185.1:n.*60A>G
ENST00000648882.1:c.*1046A>G	ENSP00000497603.1:n.*1046A>G
ENST00000648890.1:c.1220A>G	ENSP00000497503.1:p.Gln407Arg
ENST00000648915.2:c.1220A>G MANE Select	ENSP00000497160.1:p.Gln407Arg
ENST00000649545.1:c.641A>G
ENST00000649688.1:c.*513A>G	ENSP00000497097.1:n.*513A>G
ENST00000649814.1:n.1269A>G
ENST00000650270.1:c.1087A>G
ENST00000273783.7:c.1220A>G	ENSP00000273783.3:p.Gln407Arg
ENST00000432982.5:c.246-249A>G
ENST00000444495.1:c.1220A>G	ENSP00000409142.1:p.Gln407Arg
ENST00000479833.1:n.421A>G
ENST00000481054.5:n.1314A>G
ENST00000491144.5:n.1724A>G
ENST00000492773.5:n.103A>G
NM_003907.2:c.1220A>G	NP_003898.2:p.Gln407Arg
XM_011513265.1:c.470A>G	XP_011511567.1:p.Gln157Arg
XM_011513266.1:c.383A>G	XP_011511568.1:p.Gln128Arg
XR_924208.1:n.2171A>G
NM_003907.3:c.1220A>G MANE Select	NP_003898.2:p.Gln407Arg
XM_011513266.3:c.383A>G	XP_011511568.1:p.Gln128Arg
XR_001740352.2:n.1583A>G
XR_001740353.2:n.1583A>G
XR_924208.2:n.1583A>G