Canonical Allele Identifier: CA1057206419

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713389575
• gnomAD v3: 3-184136957-G-T
• gnomAD v4: 3-184136957-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136957G>T , CM000665.2:g.184136957G>T	GRCh38
NC_000003.11:g.183854745G>T , CM000665.1:g.183854745G>T	GRCh37
NC_000003.10:g.185337439G>T	NCBI36
NG_015826.1:g.6936G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*217G>T	ENSP00000414775.1:n.*217G>T
ENST00000465218.3:n.343+221G>T
ENST00000468748.7:n.303+221G>T
ENST00000471832.2:c.*535G>T	ENSP00000497786.1:n.*535G>T
ENST00000484154.2:n.279G>T
ENST00000491008.6:n.406G>T
ENST00000492226.2:n.317+221G>T
ENST00000492773.6:c.52+221G>T
ENST00000647636.1:c.320+221G>T	ENSP00000497505.1:n.320+221G>T
ENST00000647909.1:c.320+221G>T	ENSP00000498164.1:n.320+221G>T
ENST00000648145.1:c.88+221G>T
ENST00000648189.1:c.70+221G>T
ENST00000648256.1:c.269+221G>T	ENSP00000497356.1:n.269+221G>T
ENST00000648314.1:c.320+221G>T	ENSP00000496920.1:n.320+221G>T
ENST00000648599.1:c.320+221G>T	ENSP00000497159.1:n.320+221G>T
ENST00000648630.1:c.314+221G>T	ENSP00000497887.1:n.314+221G>T
ENST00000648682.1:c.320+221G>T	ENSP00000498185.1:n.320+221G>T
ENST00000648882.1:c.*146+221G>T	ENSP00000497603.1:n.*146+221G>T
ENST00000648890.1:c.320+221G>T	ENSP00000497503.1:n.320+221G>T
ENST00000648915.2:c.320+221G>T MANE Select	ENSP00000497160.1:n.320+221G>T
ENST00000649545.1:c.54+221G>T
ENST00000649688.1:c.320+221G>T	ENSP00000497097.1:n.320+221G>T
ENST00000649814.1:n.369+221G>T
ENST00000650244.1:c.465+221G>T	ENSP00000497227.1:n.465+221G>T
ENST00000650270.1:c.187+221G>T
ENST00000273783.7:c.320+221G>T	ENSP00000273783.3:n.320+221G>T
ENST00000432569.1:c.*217G>T	ENSP00000414775.1:n.*217G>T
ENST00000432982.5:c.245+282G>T
ENST00000444495.1:c.320+221G>T	ENSP00000409142.1:n.320+221G>T
ENST00000471832.1:n.472G>T
ENST00000481054.5:n.321+221G>T
ENST00000491144.5:n.668+221G>T
ENST00000498831.1:n.176+221G>T
NM_003907.2:c.320+221G>T	NP_003898.2:n.320+221G>T
XR_924208.1:n.1271+221G>T
NM_003907.3:c.320+221G>T MANE Select	NP_003898.2:n.320+221G>T
XM_011513266.3:c.-582+221G>T	XP_011511568.1:n.-582+221G>T
XR_001740352.2:n.683+221G>T
XR_001740353.2:n.683+221G>T
XR_924208.2:n.683+221G>T