Canonical Allele Identifier: CA355381590

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1385783854
• MyVariant Identifiers: chr3:g.183854478T>A (hg19) ; chr3:g.184136690T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136690T>A , CM000665.2:g.184136690T>A	GRCh38
NC_000003.11:g.183854478T>A , CM000665.1:g.183854478T>A	GRCh37
NC_000003.10:g.185337172T>A	NCBI36
NG_015826.1:g.6669T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.274T>A	ENSP00000414775.1:p.Phe92Ile
ENST00000465218.3:n.297T>A
ENST00000468748.7:n.257T>A
ENST00000471832.2:c.*268T>A	ENSP00000497786.1:n.*268T>A
ENST00000484154.2:n.12T>A
ENST00000491008.6:n.139T>A
ENST00000492226.2:n.271T>A
ENST00000492773.6:c.6T>A
ENST00000647636.1:c.274T>A	ENSP00000497505.1:p.Phe92Ile
ENST00000647909.1:c.274T>A	ENSP00000498164.1:p.Phe92Ile
ENST00000648145.1:c.42T>A
ENST00000648189.1:c.24T>A
ENST00000648256.1:c.223T>A	ENSP00000497356.1:p.Phe75Ile
ENST00000648314.1:c.274T>A	ENSP00000496920.1:p.Phe92Ile
ENST00000648599.1:c.274T>A	ENSP00000497159.1:p.Phe92Ile
ENST00000648630.1:c.268T>A	ENSP00000497887.1:p.Phe90Ile
ENST00000648682.1:c.274T>A	ENSP00000498185.1:p.Phe92Ile
ENST00000648882.1:c.*100T>A	ENSP00000497603.1:n.*100T>A
ENST00000648890.1:c.274T>A	ENSP00000497503.1:p.Phe92Ile
ENST00000648915.2:c.274T>A MANE Select	ENSP00000497160.1:p.Phe92Ile
ENST00000649545.1:c.8T>A
ENST00000649688.1:c.274T>A	ENSP00000497097.1:p.Phe92Ile
ENST00000649814.1:n.323T>A
ENST00000650244.1:c.419T>A	ENSP00000497227.1:n.419T>A
ENST00000650270.1:c.141T>A
ENST00000273783.7:c.274T>A	ENSP00000273783.3:p.Phe92Ile
ENST00000432569.1:c.274T>A	ENSP00000414775.1:p.Phe92Ile
ENST00000432982.5:c.245+15T>A
ENST00000444495.1:c.274T>A	ENSP00000409142.1:p.Phe92Ile
ENST00000471832.1:n.205T>A
ENST00000481054.5:n.275T>A
ENST00000491144.5:n.622T>A
ENST00000498831.1:n.130T>A
NM_003907.2:c.274T>A	NP_003898.2:p.Phe92Ile
XR_924208.1:n.1225T>A
NM_003907.3:c.274T>A MANE Select	NP_003898.2:p.Phe92Ile
XM_011513266.3:c.-628T>A	XP_011511568.1:n.-628T>A
XR_001740352.2:n.637T>A
XR_001740353.2:n.637T>A
XR_924208.2:n.637T>A