Canonical Allele Identifier: CA2726385

Gene: EIF2B5

Linked Data

• dbSNP Id: rs144942694
• ExAC: 3:183855478 C / G
• gnomAD v2: 3-183855478-C-G
• gnomAD v3: 3-184137690-C-G
• gnomAD v4: 3-184137690-C-G
• MyVariant Identifiers: chr3:g.183855478C>G (hg19) ; chr3:g.184137690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137690C>G , CM000665.2:g.184137690C>G	GRCh38
NC_000003.11:g.183855478C>G , CM000665.1:g.183855478C>G	GRCh37
NC_000003.10:g.185338172C>G	NCBI36
NG_015826.1:g.7669C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.414C>G
ENST00000468748.7:n.374C>G
ENST00000484154.2:n.1012C>G
ENST00000491008.6:n.1139C>G
ENST00000492226.2:n.388C>G
ENST00000492773.6:c.123C>G
ENST00000647636.1:c.391C>G	ENSP00000497505.1:p.Leu131Val
ENST00000647909.1:c.391C>G	ENSP00000498164.1:p.Leu131Val
ENST00000648145.1:c.159C>G
ENST00000648189.1:c.141C>G
ENST00000648256.1:c.340C>G	ENSP00000497356.1:p.Leu114Val
ENST00000648314.1:c.391C>G	ENSP00000496920.1:p.Leu131Val
ENST00000648599.1:c.391C>G	ENSP00000497159.1:p.Leu131Val
ENST00000648630.1:c.385C>G	ENSP00000497887.1:p.Leu129Val
ENST00000648682.1:c.391C>G	ENSP00000498185.1:p.Leu131Val
ENST00000648882.1:c.*217C>G	ENSP00000497603.1:n.*217C>G
ENST00000648890.1:c.391C>G	ENSP00000497503.1:p.Leu131Val
ENST00000648915.2:c.391C>G MANE Select	ENSP00000497160.1:p.Leu131Val
ENST00000649545.1:c.125C>G
ENST00000649688.1:c.391C>G	ENSP00000497097.1:p.Leu131Val
ENST00000649814.1:n.440C>G
ENST00000650244.1:c.536C>G	ENSP00000497227.1:n.536C>G
ENST00000650270.1:c.258C>G
ENST00000273783.7:c.391C>G	ENSP00000273783.3:p.Leu131Val
ENST00000432982.5:c.245+1015C>G
ENST00000444495.1:c.391C>G	ENSP00000409142.1:p.Leu131Val
ENST00000481054.5:n.392C>G
ENST00000491008.5:n.355C>G
ENST00000491144.5:n.739C>G
ENST00000498831.1:n.346C>G
NM_003907.2:c.391C>G	NP_003898.2:p.Leu131Val
XR_924208.1:n.1342C>G
NM_003907.3:c.391C>G MANE Select	NP_003898.2:p.Leu131Val
XM_011513266.3:c.-511C>G	XP_011511568.1:n.-511C>G
XR_001740352.2:n.754C>G
XR_001740353.2:n.754C>G
XR_924208.2:n.754C>G