Canonical Allele Identifier: CA548394837

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1253435652
• gnomAD v2: 3-183855385-C-A
• gnomAD v4: 3-184137597-C-A
• MyVariant Identifiers: chr3:g.183855385C>A (hg19) ; chr3:g.184137597C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137597C>A , CM000665.2:g.184137597C>A	GRCh38
NC_000003.11:g.183855385C>A , CM000665.1:g.183855385C>A	GRCh37
NC_000003.10:g.185338079C>A	NCBI36
NG_015826.1:g.7576C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.344-23C>A
ENST00000468748.7:n.304-23C>A
ENST00000484154.2:n.919C>A
ENST00000491008.6:n.1046C>A
ENST00000492226.2:n.318-23C>A
ENST00000492773.6:c.53-23C>A
ENST00000647636.1:c.321-23C>A	ENSP00000497505.1:n.321-23C>A
ENST00000647909.1:c.321-23C>A	ENSP00000498164.1:n.321-23C>A
ENST00000648145.1:c.89-23C>A
ENST00000648189.1:c.71-23C>A
ENST00000648256.1:c.270-23C>A	ENSP00000497356.1:n.270-23C>A
ENST00000648314.1:c.321-23C>A	ENSP00000496920.1:n.321-23C>A
ENST00000648599.1:c.321-23C>A	ENSP00000497159.1:n.321-23C>A
ENST00000648630.1:c.315-23C>A	ENSP00000497887.1:n.315-23C>A
ENST00000648682.1:c.321-23C>A	ENSP00000498185.1:n.321-23C>A
ENST00000648882.1:c.*147-23C>A	ENSP00000497603.1:n.*147-23C>A
ENST00000648890.1:c.321-23C>A	ENSP00000497503.1:n.321-23C>A
ENST00000648915.2:c.321-23C>A MANE Select	ENSP00000497160.1:n.321-23C>A
ENST00000649545.1:c.55-23C>A
ENST00000649688.1:c.321-23C>A	ENSP00000497097.1:n.321-23C>A
ENST00000649814.1:n.370-23C>A
ENST00000650244.1:c.466-23C>A	ENSP00000497227.1:n.466-23C>A
ENST00000650270.1:c.188-23C>A
ENST00000273783.7:c.321-23C>A	ENSP00000273783.3:n.321-23C>A
ENST00000432982.5:c.245+922C>A
ENST00000444495.1:c.321-23C>A	ENSP00000409142.1:n.321-23C>A
ENST00000481054.5:n.322-23C>A
ENST00000491008.5:n.262C>A
ENST00000491144.5:n.669-23C>A
ENST00000498831.1:n.276-23C>A
NM_003907.2:c.321-23C>A	NP_003898.2:n.321-23C>A
XR_924208.1:n.1272-23C>A
NM_003907.3:c.321-23C>A MANE Select	NP_003898.2:n.321-23C>A
XM_011513266.3:c.-581-23C>A	XP_011511568.1:n.-581-23C>A
XR_001740352.2:n.684-23C>A
XR_001740353.2:n.684-23C>A
XR_924208.2:n.684-23C>A