Canonical Allele Identifier: CA355382263

Gene: EIF2B5

Linked Data

• COSMIC: COSM1041916
• MyVariant Identifiers: chr3:g.183855751G>T (hg19) ; chr3:g.184137963G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137963G>T , CM000665.2:g.184137963G>T	GRCh38
NC_000003.11:g.183855751G>T , CM000665.1:g.183855751G>T	GRCh37
NC_000003.10:g.185338445G>T	NCBI36
NG_015826.1:g.7942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.595G>T
ENST00000468748.7:n.555G>T
ENST00000484154.2:n.1193G>T
ENST00000491008.6:n.1320G>T
ENST00000492226.2:n.569G>T
ENST00000492773.6:c.304G>T
ENST00000647636.1:c.572G>T	ENSP00000497505.1:p.Ser191Ile
ENST00000647909.1:c.596G>T	ENSP00000498164.1:p.Ser199Ile
ENST00000648145.1:c.340G>T
ENST00000648189.1:c.322G>T
ENST00000648256.1:c.521G>T	ENSP00000497356.1:p.Ser174Ile
ENST00000648314.1:c.572G>T	ENSP00000496920.1:p.Ser191Ile
ENST00000648599.1:c.572G>T	ENSP00000497159.1:p.Ser191Ile
ENST00000648630.1:c.566G>T	ENSP00000497887.1:p.Ser189Ile
ENST00000648682.1:c.572G>T	ENSP00000498185.1:p.Ser191Ile
ENST00000648882.1:c.*398G>T	ENSP00000497603.1:n.*398G>T
ENST00000648890.1:c.572G>T	ENSP00000497503.1:p.Ser191Ile
ENST00000648915.2:c.572G>T MANE Select	ENSP00000497160.1:p.Ser191Ile
ENST00000649545.1:c.306G>T
ENST00000649688.1:c.572G>T	ENSP00000497097.1:p.Ser191Ile
ENST00000649814.1:n.621G>T
ENST00000650270.1:c.439G>T
ENST00000273783.7:c.572G>T	ENSP00000273783.3:p.Ser191Ile
ENST00000432982.5:c.245+1288G>T
ENST00000444495.1:c.572G>T	ENSP00000409142.1:p.Ser191Ile
ENST00000468748.5:n.25G>T
ENST00000481054.5:n.573G>T
ENST00000491008.5:n.536G>T
ENST00000491144.5:n.1012G>T
ENST00000498831.1:n.527G>T
NM_003907.2:c.572G>T	NP_003898.2:p.Ser191Ile
XR_924208.1:n.1523G>T
NM_003907.3:c.572G>T MANE Select	NP_003898.2:p.Ser191Ile
XM_011513266.3:c.-330G>T	XP_011511568.1:n.-330G>T
XR_001740352.2:n.935G>T
XR_001740353.2:n.935G>T
XR_924208.2:n.935G>T