Canonical Allele Identifier: CA1057206356

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1560106594
• gnomAD v3: 3-184136848-C-T
• gnomAD v4: 3-184136848-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136848C>T , CM000665.2:g.184136848C>T	GRCh38
NC_000003.11:g.183854636C>T , CM000665.1:g.183854636C>T	GRCh37
NC_000003.10:g.185337330C>T	NCBI36
NG_015826.1:g.6827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*108C>T	ENSP00000414775.1:n.*108C>T
ENST00000465218.3:n.343+112C>T
ENST00000468748.7:n.303+112C>T
ENST00000471832.2:c.*426C>T	ENSP00000497786.1:n.*426C>T
ENST00000484154.2:n.170C>T
ENST00000491008.6:n.297C>T
ENST00000492226.2:n.317+112C>T
ENST00000492773.6:c.52+112C>T
ENST00000647636.1:c.320+112C>T	ENSP00000497505.1:n.320+112C>T
ENST00000647909.1:c.320+112C>T	ENSP00000498164.1:n.320+112C>T
ENST00000648145.1:c.88+112C>T
ENST00000648189.1:c.70+112C>T
ENST00000648256.1:c.269+112C>T	ENSP00000497356.1:n.269+112C>T
ENST00000648314.1:c.320+112C>T	ENSP00000496920.1:n.320+112C>T
ENST00000648599.1:c.320+112C>T	ENSP00000497159.1:n.320+112C>T
ENST00000648630.1:c.314+112C>T	ENSP00000497887.1:n.314+112C>T
ENST00000648682.1:c.320+112C>T	ENSP00000498185.1:n.320+112C>T
ENST00000648882.1:c.*146+112C>T	ENSP00000497603.1:n.*146+112C>T
ENST00000648890.1:c.320+112C>T	ENSP00000497503.1:n.320+112C>T
ENST00000648915.2:c.320+112C>T MANE Select	ENSP00000497160.1:n.320+112C>T
ENST00000649545.1:c.54+112C>T
ENST00000649688.1:c.320+112C>T	ENSP00000497097.1:n.320+112C>T
ENST00000649814.1:n.369+112C>T
ENST00000650244.1:c.465+112C>T	ENSP00000497227.1:n.465+112C>T
ENST00000650270.1:c.187+112C>T
ENST00000273783.7:c.320+112C>T	ENSP00000273783.3:n.320+112C>T
ENST00000432569.1:c.*108C>T	ENSP00000414775.1:n.*108C>T
ENST00000432982.5:c.245+173C>T
ENST00000444495.1:c.320+112C>T	ENSP00000409142.1:n.320+112C>T
ENST00000471832.1:n.363C>T
ENST00000481054.5:n.321+112C>T
ENST00000491144.5:n.668+112C>T
ENST00000498831.1:n.176+112C>T
NM_003907.2:c.320+112C>T	NP_003898.2:n.320+112C>T
XR_924208.1:n.1271+112C>T
NM_003907.3:c.320+112C>T MANE Select	NP_003898.2:n.320+112C>T
XM_011513266.3:c.-582+112C>T	XP_011511568.1:n.-582+112C>T
XR_001740352.2:n.683+112C>T
XR_001740353.2:n.683+112C>T
XR_924208.2:n.683+112C>T