Canonical Allele Identifier: CA2726556

Gene: EIF2B5

Linked Data

• dbSNP Id: rs766187010
• ExAC: 3:183858309 G / A
• gnomAD v2: 3-183858309-G-A
• gnomAD v3: 3-184140521-G-A
• gnomAD v4: 3-184140521-G-A
• MyVariant Identifiers: chr3:g.183858309G>A (hg19) ; chr3:g.184140521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140521G>A , CM000665.2:g.184140521G>A	GRCh38
NC_000003.11:g.183858309G>A , CM000665.1:g.183858309G>A	GRCh37
NC_000003.10:g.185341003G>A	NCBI36
NG_015826.1:g.10500G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.970G>A
ENST00000468748.7:n.1190G>A
ENST00000484154.2:n.1387-1404G>A
ENST00000491008.6:n.1695G>A
ENST00000492226.2:n.1204G>A
ENST00000492773.6:c.701G>A
ENST00000647636.1:c.947G>A	ENSP00000497505.1:p.Arg316Gln
ENST00000647909.1:c.971G>A	ENSP00000498164.1:p.Arg324Gln
ENST00000648145.1:c.715G>A
ENST00000648189.1:c.761G>A
ENST00000648256.1:c.919G>A	ENSP00000497356.1:n.919G>A
ENST00000648314.1:c.*66G>A	ENSP00000496920.1:n.*66G>A
ENST00000648599.1:c.*230G>A	ENSP00000497159.1:n.*230G>A
ENST00000648630.1:c.941G>A	ENSP00000497887.1:p.Arg314Gln
ENST00000648682.1:c.947G>A	ENSP00000498185.1:p.Arg316Gln
ENST00000648882.1:c.*773G>A	ENSP00000497603.1:n.*773G>A
ENST00000648890.1:c.947G>A	ENSP00000497503.1:p.Arg316Gln
ENST00000648915.2:c.947G>A MANE Select	ENSP00000497160.1:p.Arg316Gln
ENST00000649545.1:c.577+364G>A
ENST00000649688.1:c.*230G>A	ENSP00000497097.1:n.*230G>A
ENST00000649814.1:n.996G>A
ENST00000650270.1:c.814G>A
ENST00000273783.7:c.947G>A	ENSP00000273783.3:p.Arg316Gln
ENST00000432982.5:c.246-1716G>A
ENST00000444495.1:c.947G>A	ENSP00000409142.1:p.Arg316Gln
ENST00000468748.5:n.660G>A
ENST00000479833.1:n.263G>A
ENST00000481054.5:n.1041G>A
ENST00000491144.5:n.1451G>A
ENST00000493740.1:n.177G>A
NM_003907.2:c.947G>A	NP_003898.2:p.Arg316Gln
XM_011513265.1:c.197G>A	XP_011511567.1:p.Arg66Gln
XM_011513266.1:c.110G>A	XP_011511568.1:p.Arg37Gln
XR_924208.1:n.1898G>A
NM_003907.3:c.947G>A MANE Select	NP_003898.2:p.Arg316Gln
XM_011513266.3:c.110G>A	XP_011511568.1:p.Arg37Gln
XR_001740352.2:n.1310G>A
XR_001740353.2:n.1310G>A
XR_924208.2:n.1310G>A