Canonical Allele Identifier: CA355382398

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138028-C-T
• MyVariant Identifiers: chr3:g.183855816C>T (hg19) ; chr3:g.184138028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138028C>T , CM000665.2:g.184138028C>T	GRCh38
NC_000003.11:g.183855816C>T , CM000665.1:g.183855816C>T	GRCh37
NC_000003.10:g.185338510C>T	NCBI36
NG_015826.1:g.8007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.660C>T
ENST00000468748.7:n.620C>T
ENST00000484154.2:n.1258C>T
ENST00000491008.6:n.1385C>T
ENST00000492226.2:n.634C>T
ENST00000492773.6:c.369C>T
ENST00000647636.1:c.637C>T	ENSP00000497505.1:p.Leu213Phe
ENST00000647909.1:c.661C>T	ENSP00000498164.1:p.Leu221Phe
ENST00000648145.1:c.405C>T
ENST00000648189.1:c.387C>T
ENST00000648256.1:c.586C>T	ENSP00000497356.1:p.Leu196Phe
ENST00000648314.1:c.637C>T	ENSP00000496920.1:p.Leu213Phe
ENST00000648599.1:c.637C>T	ENSP00000497159.1:p.Leu213Phe
ENST00000648630.1:c.631C>T	ENSP00000497887.1:p.Leu211Phe
ENST00000648682.1:c.637C>T	ENSP00000498185.1:p.Leu213Phe
ENST00000648882.1:c.*463C>T	ENSP00000497603.1:n.*463C>T
ENST00000648890.1:c.637C>T	ENSP00000497503.1:p.Leu213Phe
ENST00000648915.2:c.637C>T MANE Select	ENSP00000497160.1:p.Leu213Phe
ENST00000649545.1:c.371C>T
ENST00000649688.1:c.637C>T	ENSP00000497097.1:p.Leu213Phe
ENST00000649814.1:n.686C>T
ENST00000650270.1:c.504C>T
ENST00000273783.7:c.637C>T	ENSP00000273783.3:p.Leu213Phe
ENST00000432982.5:c.245+1353C>T
ENST00000444495.1:c.637C>T	ENSP00000409142.1:p.Leu213Phe
ENST00000468748.5:n.90C>T
ENST00000481054.5:n.638C>T
ENST00000491008.5:n.601C>T
ENST00000491144.5:n.1077C>T
ENST00000498831.1:n.592C>T
NM_003907.2:c.637C>T	NP_003898.2:p.Leu213Phe
XR_924208.1:n.1588C>T
NM_003907.3:c.637C>T MANE Select	NP_003898.2:p.Leu213Phe
XM_011513266.3:c.-265C>T	XP_011511568.1:n.-265C>T
XR_001740352.2:n.1000C>T
XR_001740353.2:n.1000C>T
XR_924208.2:n.1000C>T