Canonical Allele Identifier: CA355382495

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855862T>A (hg19) ; chr3:g.184138074T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138074T>A , CM000665.2:g.184138074T>A	GRCh38
NC_000003.11:g.183855862T>A , CM000665.1:g.183855862T>A	GRCh37
NC_000003.10:g.185338556T>A	NCBI36
NG_015826.1:g.8053T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.706T>A
ENST00000468748.7:n.666T>A
ENST00000484154.2:n.1304T>A
ENST00000491008.6:n.1431T>A
ENST00000492226.2:n.680T>A
ENST00000492773.6:c.415T>A
ENST00000647636.1:c.683T>A	ENSP00000497505.1:p.Leu228Gln
ENST00000647909.1:c.707T>A	ENSP00000498164.1:p.Leu236Gln
ENST00000648145.1:c.451T>A
ENST00000648189.1:c.433T>A
ENST00000648256.1:c.632T>A	ENSP00000497356.1:p.Leu211Gln
ENST00000648314.1:c.683T>A	ENSP00000496920.1:p.Leu228Gln
ENST00000648599.1:c.683T>A	ENSP00000497159.1:p.Leu228Gln
ENST00000648630.1:c.677T>A	ENSP00000497887.1:p.Leu226Gln
ENST00000648682.1:c.683T>A	ENSP00000498185.1:p.Leu228Gln
ENST00000648882.1:c.*509T>A	ENSP00000497603.1:n.*509T>A
ENST00000648890.1:c.683T>A	ENSP00000497503.1:p.Leu228Gln
ENST00000648915.2:c.683T>A MANE Select	ENSP00000497160.1:p.Leu228Gln
ENST00000649545.1:c.417T>A
ENST00000649688.1:c.683T>A	ENSP00000497097.1:p.Leu228Gln
ENST00000649814.1:n.732T>A
ENST00000650270.1:c.550T>A
ENST00000273783.7:c.683T>A	ENSP00000273783.3:p.Leu228Gln
ENST00000432982.5:c.245+1399T>A
ENST00000444495.1:c.683T>A	ENSP00000409142.1:p.Leu228Gln
ENST00000468748.5:n.136T>A
ENST00000481054.5:n.684T>A
ENST00000491008.5:n.647T>A
ENST00000491144.5:n.1123T>A
NM_003907.2:c.683T>A	NP_003898.2:p.Leu228Gln
XR_924208.1:n.1634T>A
NM_003907.3:c.683T>A MANE Select	NP_003898.2:p.Leu228Gln
XM_011513266.3:c.-219T>A	XP_011511568.1:n.-219T>A
XR_001740352.2:n.1046T>A
XR_001740353.2:n.1046T>A
XR_924208.2:n.1046T>A