Canonical Allele Identifier: CA355385651

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858360A>G (hg19) ; chr3:g.184140572A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140572A>G , CM000665.2:g.184140572A>G	GRCh38
NC_000003.11:g.183858360A>G , CM000665.1:g.183858360A>G	GRCh37
NC_000003.10:g.185341054A>G	NCBI36
NG_015826.1:g.10551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1021A>G
ENST00000468748.7:n.1241A>G
ENST00000484154.2:n.1387-1353A>G
ENST00000491008.6:n.1746A>G
ENST00000492226.2:n.1255A>G
ENST00000492773.6:c.752A>G
ENST00000647636.1:c.998A>G	ENSP00000497505.1:p.Gln333Arg
ENST00000647909.1:c.1022A>G	ENSP00000498164.1:p.Gln341Arg
ENST00000648145.1:c.766A>G
ENST00000648189.1:c.812A>G
ENST00000648256.1:c.970A>G	ENSP00000497356.1:n.970A>G
ENST00000648314.1:c.*117A>G	ENSP00000496920.1:n.*117A>G
ENST00000648599.1:c.*281A>G	ENSP00000497159.1:n.*281A>G
ENST00000648630.1:c.992A>G	ENSP00000497887.1:p.Gln331Arg
ENST00000648682.1:c.998A>G	ENSP00000498185.1:p.Gln333Arg
ENST00000648882.1:c.*824A>G	ENSP00000497603.1:n.*824A>G
ENST00000648890.1:c.998A>G	ENSP00000497503.1:p.Gln333Arg
ENST00000648915.2:c.998A>G MANE Select	ENSP00000497160.1:p.Gln333Arg
ENST00000649545.1:c.577+415A>G
ENST00000649688.1:c.*281A>G	ENSP00000497097.1:n.*281A>G
ENST00000649814.1:n.1047A>G
ENST00000650270.1:c.865A>G
ENST00000273783.7:c.998A>G	ENSP00000273783.3:p.Gln333Arg
ENST00000432982.5:c.246-1665A>G
ENST00000444495.1:c.998A>G	ENSP00000409142.1:p.Gln333Arg
ENST00000479833.1:n.314A>G
ENST00000481054.5:n.1092A>G
ENST00000491144.5:n.1502A>G
ENST00000493740.1:n.228A>G
NM_003907.2:c.998A>G	NP_003898.2:p.Gln333Arg
XM_011513265.1:c.248A>G	XP_011511567.1:p.Gln83Arg
XM_011513266.1:c.161A>G	XP_011511568.1:p.Gln54Arg
XR_924208.1:n.1949A>G
NM_003907.3:c.998A>G MANE Select	NP_003898.2:p.Gln333Arg
XM_011513266.3:c.161A>G	XP_011511568.1:p.Gln54Arg
XR_001740352.2:n.1361A>G
XR_001740353.2:n.1361A>G
XR_924208.2:n.1361A>G