Canonical Allele Identifier: CA2668795873

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184136934-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136934C>G , CM000665.2:g.184136934C>G	GRCh38
NC_000003.11:g.183854722C>G , CM000665.1:g.183854722C>G	GRCh37
NC_000003.10:g.185337416C>G	NCBI36
NG_015826.1:g.6913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*194C>G	ENSP00000414775.1:n.*194C>G
ENST00000465218.3:n.343+198C>G
ENST00000468748.7:n.303+198C>G
ENST00000471832.2:c.*512C>G	ENSP00000497786.1:n.*512C>G
ENST00000484154.2:n.256C>G
ENST00000491008.6:n.383C>G
ENST00000492226.2:n.317+198C>G
ENST00000492773.6:c.52+198C>G
ENST00000647636.1:c.320+198C>G	ENSP00000497505.1:n.320+198C>G
ENST00000647909.1:c.320+198C>G	ENSP00000498164.1:n.320+198C>G
ENST00000648145.1:c.88+198C>G
ENST00000648189.1:c.70+198C>G
ENST00000648256.1:c.269+198C>G	ENSP00000497356.1:n.269+198C>G
ENST00000648314.1:c.320+198C>G	ENSP00000496920.1:n.320+198C>G
ENST00000648599.1:c.320+198C>G	ENSP00000497159.1:n.320+198C>G
ENST00000648630.1:c.314+198C>G	ENSP00000497887.1:n.314+198C>G
ENST00000648682.1:c.320+198C>G	ENSP00000498185.1:n.320+198C>G
ENST00000648882.1:c.*146+198C>G	ENSP00000497603.1:n.*146+198C>G
ENST00000648890.1:c.320+198C>G	ENSP00000497503.1:n.320+198C>G
ENST00000648915.2:c.320+198C>G MANE Select	ENSP00000497160.1:n.320+198C>G
ENST00000649545.1:c.54+198C>G
ENST00000649688.1:c.320+198C>G	ENSP00000497097.1:n.320+198C>G
ENST00000649814.1:n.369+198C>G
ENST00000650244.1:c.465+198C>G	ENSP00000497227.1:n.465+198C>G
ENST00000650270.1:c.187+198C>G
ENST00000273783.7:c.320+198C>G	ENSP00000273783.3:n.320+198C>G
ENST00000432569.1:c.*194C>G	ENSP00000414775.1:n.*194C>G
ENST00000432982.5:c.245+259C>G
ENST00000444495.1:c.320+198C>G	ENSP00000409142.1:n.320+198C>G
ENST00000471832.1:n.449C>G
ENST00000481054.5:n.321+198C>G
ENST00000491144.5:n.668+198C>G
ENST00000498831.1:n.176+198C>G
NM_003907.2:c.320+198C>G	NP_003898.2:n.320+198C>G
XR_924208.1:n.1271+198C>G
NM_003907.3:c.320+198C>G MANE Select	NP_003898.2:n.320+198C>G
XM_011513266.3:c.-582+198C>G	XP_011511568.1:n.-582+198C>G
XR_001740352.2:n.683+198C>G
XR_001740353.2:n.683+198C>G
XR_924208.2:n.683+198C>G