Canonical Allele Identifier: CA1425882324

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713416831
• gnomAD v4: 3-184137567-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137568_184137570dup , CM000665.2:g.184137568_184137570dup	GRCh38
NC_000003.11:g.183855356_183855358dup , CM000665.1:g.183855356_183855358dup	GRCh37
NC_000003.10:g.185338050_185338052dup	NCBI36
NG_015826.1:g.7547_7549dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.344-52_344-50dup
ENST00000468748.7:n.304-52_304-50dup
ENST00000484154.2:n.890_892dup
ENST00000491008.6:n.1017_1019dup
ENST00000492226.2:n.318-52_318-50dup
ENST00000492773.6:c.53-52_53-50dup
ENST00000647636.1:c.321-52_321-50dup	ENSP00000497505.1:n.321-52_321-50dup
ENST00000647909.1:c.321-52_321-50dup	ENSP00000498164.1:n.321-52_321-50dup
ENST00000648145.1:c.89-52_89-50dup
ENST00000648189.1:c.71-52_71-50dup
ENST00000648256.1:c.270-52_270-50dup	ENSP00000497356.1:n.270-52_270-50dup
ENST00000648314.1:c.321-52_321-50dup	ENSP00000496920.1:n.321-52_321-50dup
ENST00000648599.1:c.321-52_321-50dup	ENSP00000497159.1:n.321-52_321-50dup
ENST00000648630.1:c.315-52_315-50dup	ENSP00000497887.1:n.315-52_315-50dup
ENST00000648682.1:c.321-52_321-50dup	ENSP00000498185.1:n.321-52_321-50dup
ENST00000648882.1:c.*147-52_*147-50dup	ENSP00000497603.1:n.*147-52_*147-50dup
ENST00000648890.1:c.321-52_321-50dup	ENSP00000497503.1:n.321-52_321-50dup
ENST00000648915.2:c.321-52_321-50dup MANE Select	ENSP00000497160.1:n.321-52_321-50dup
ENST00000649545.1:c.55-52_55-50dup
ENST00000649688.1:c.321-52_321-50dup	ENSP00000497097.1:n.321-52_321-50dup
ENST00000649814.1:n.370-52_370-50dup
ENST00000650244.1:c.466-52_466-50dup	ENSP00000497227.1:n.466-52_466-50dup
ENST00000650270.1:c.188-52_188-50dup
ENST00000273783.7:c.321-52_321-50dup	ENSP00000273783.3:n.321-52_321-50dup
ENST00000432982.5:c.245+893_245+895dup
ENST00000444495.1:c.321-52_321-50dup	ENSP00000409142.1:n.321-52_321-50dup
ENST00000481054.5:n.322-52_322-50dup
ENST00000491008.5:n.233_235dup
ENST00000491144.5:n.669-52_669-50dup
ENST00000498831.1:n.275+38_275+40dup
NM_003907.2:c.321-52_321-50dup	NP_003898.2:n.321-52_321-50dup
XR_924208.1:n.1272-52_1272-50dup
NM_003907.3:c.321-52_321-50dup MANE Select	NP_003898.2:n.321-52_321-50dup
XM_011513266.3:c.-581-52_-581-50dup	XP_011511568.1:n.-581-52_-581-50dup
XR_001740352.2:n.684-52_684-50dup
XR_001740353.2:n.684-52_684-50dup
XR_924208.2:n.684-52_684-50dup