Canonical Allele Identifier: CA437323522

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 899567
• ClinVar RCV Id: RCV001144205 ; RCV001452254
• dbSNP Id: rs1330413908
• gnomAD v2: 3-183855725-G-A
• gnomAD v4: 3-184137937-G-A
• MyVariant Identifiers: chr3:g.183855725G>A (hg19) ; chr3:g.184137937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137937G>A , CM000665.2:g.184137937G>A	GRCh38
NC_000003.11:g.183855725G>A , CM000665.1:g.183855725G>A	GRCh37
NC_000003.10:g.185338419G>A	NCBI36
NG_015826.1:g.7916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.569G>A
ENST00000468748.7:n.529G>A
ENST00000484154.2:n.1167G>A
ENST00000491008.6:n.1294G>A
ENST00000492226.2:n.543G>A
ENST00000492773.6:c.278G>A
ENST00000647636.1:c.546G>A	ENSP00000497505.1:p.Thr182=
ENST00000647909.1:c.570G>A	ENSP00000498164.1:p.Thr190=
ENST00000648145.1:c.314G>A
ENST00000648189.1:c.296G>A
ENST00000648256.1:c.495G>A	ENSP00000497356.1:p.Thr165=
ENST00000648314.1:c.546G>A	ENSP00000496920.1:p.Thr182=
ENST00000648599.1:c.546G>A	ENSP00000497159.1:p.Thr182=
ENST00000648630.1:c.540G>A	ENSP00000497887.1:p.Thr180=
ENST00000648682.1:c.546G>A	ENSP00000498185.1:p.Thr182=
ENST00000648882.1:c.*372G>A	ENSP00000497603.1:n.*372G>A
ENST00000648890.1:c.546G>A	ENSP00000497503.1:p.Thr182=
ENST00000648915.2:c.546G>A MANE Select	ENSP00000497160.1:p.Thr182=
ENST00000649545.1:c.280G>A
ENST00000649688.1:c.546G>A	ENSP00000497097.1:p.Thr182=
ENST00000649814.1:n.595G>A
ENST00000650244.1:c.691G>A	ENSP00000497227.1:n.691G>A
ENST00000650270.1:c.413G>A
ENST00000273783.7:c.546G>A	ENSP00000273783.3:p.Thr182=
ENST00000432982.5:c.245+1262G>A
ENST00000444495.1:c.546G>A	ENSP00000409142.1:p.Thr182=
ENST00000481054.5:n.547G>A
ENST00000491008.5:n.510G>A
ENST00000491144.5:n.986G>A
ENST00000498831.1:n.501G>A
NM_003907.2:c.546G>A	NP_003898.2:p.Thr182=
XR_924208.1:n.1497G>A
NM_003907.3:c.546G>A MANE Select	NP_003898.2:p.Thr182=
XM_011513266.3:c.-356G>A	XP_011511568.1:n.-356G>A
XR_001740352.2:n.909G>A
XR_001740353.2:n.909G>A
XR_924208.2:n.909G>A