Canonical Allele Identifier: CA88840389

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2139306
• ClinVar RCV Id: RCV003050945
• dbSNP Id: rs887900270
• gnomAD v4: 3-184137604-C-T
• MyVariant Identifiers: chr3:g.183855392C>T (hg19) ; chr3:g.184137604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137604C>T , CM000665.2:g.184137604C>T	GRCh38
NC_000003.11:g.183855392C>T , CM000665.1:g.183855392C>T	GRCh37
NC_000003.10:g.185338086C>T	NCBI36
NG_015826.1:g.7583C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.344-16C>T
ENST00000468748.7:n.304-16C>T
ENST00000484154.2:n.926C>T
ENST00000491008.6:n.1053C>T
ENST00000492226.2:n.318-16C>T
ENST00000492773.6:c.53-16C>T
ENST00000647636.1:c.321-16C>T	ENSP00000497505.1:n.321-16C>T
ENST00000647909.1:c.321-16C>T	ENSP00000498164.1:n.321-16C>T
ENST00000648145.1:c.89-16C>T
ENST00000648189.1:c.71-16C>T
ENST00000648256.1:c.270-16C>T	ENSP00000497356.1:n.270-16C>T
ENST00000648314.1:c.321-16C>T	ENSP00000496920.1:n.321-16C>T
ENST00000648599.1:c.321-16C>T	ENSP00000497159.1:n.321-16C>T
ENST00000648630.1:c.315-16C>T	ENSP00000497887.1:n.315-16C>T
ENST00000648682.1:c.321-16C>T	ENSP00000498185.1:n.321-16C>T
ENST00000648882.1:c.*147-16C>T	ENSP00000497603.1:n.*147-16C>T
ENST00000648890.1:c.321-16C>T	ENSP00000497503.1:n.321-16C>T
ENST00000648915.2:c.321-16C>T MANE Select	ENSP00000497160.1:n.321-16C>T
ENST00000649545.1:c.55-16C>T
ENST00000649688.1:c.321-16C>T	ENSP00000497097.1:n.321-16C>T
ENST00000649814.1:n.370-16C>T
ENST00000650244.1:c.466-16C>T	ENSP00000497227.1:n.466-16C>T
ENST00000650270.1:c.188-16C>T
ENST00000273783.7:c.321-16C>T	ENSP00000273783.3:n.321-16C>T
ENST00000432982.5:c.245+929C>T
ENST00000444495.1:c.321-16C>T	ENSP00000409142.1:n.321-16C>T
ENST00000481054.5:n.322-16C>T
ENST00000491008.5:n.269C>T
ENST00000491144.5:n.669-16C>T
ENST00000498831.1:n.276-16C>T
NM_003907.2:c.321-16C>T	NP_003898.2:n.321-16C>T
XR_924208.1:n.1272-16C>T
NM_003907.3:c.321-16C>T MANE Select	NP_003898.2:n.321-16C>T
XM_011513266.3:c.-581-16C>T	XP_011511568.1:n.-581-16C>T
XR_001740352.2:n.684-16C>T
XR_001740353.2:n.684-16C>T
XR_924208.2:n.684-16C>T