Canonical Allele Identifier: CA1425881812

Gene: EIF2B5

Linked Data

• dbSNP Id: rs146048484
• gnomAD v4: 3-184136970-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136970C>T , CM000665.2:g.184136970C>T	GRCh38
NC_000003.11:g.183854758C>T , CM000665.1:g.183854758C>T	GRCh37
NC_000003.10:g.185337452C>T	NCBI36
NG_015826.1:g.6949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*230C>T	ENSP00000414775.1:n.*230C>T
ENST00000465218.3:n.343+234C>T
ENST00000468748.7:n.303+234C>T
ENST00000471832.2:c.*548C>T	ENSP00000497786.1:n.*548C>T
ENST00000484154.2:n.292C>T
ENST00000491008.6:n.419C>T
ENST00000492226.2:n.317+234C>T
ENST00000492773.6:c.52+234C>T
ENST00000647636.1:c.320+234C>T	ENSP00000497505.1:n.320+234C>T
ENST00000647909.1:c.320+234C>T	ENSP00000498164.1:n.320+234C>T
ENST00000648145.1:c.88+234C>T
ENST00000648189.1:c.70+234C>T
ENST00000648256.1:c.269+234C>T	ENSP00000497356.1:n.269+234C>T
ENST00000648314.1:c.320+234C>T	ENSP00000496920.1:n.320+234C>T
ENST00000648599.1:c.320+234C>T	ENSP00000497159.1:n.320+234C>T
ENST00000648630.1:c.314+234C>T	ENSP00000497887.1:n.314+234C>T
ENST00000648682.1:c.320+234C>T	ENSP00000498185.1:n.320+234C>T
ENST00000648882.1:c.*146+234C>T	ENSP00000497603.1:n.*146+234C>T
ENST00000648890.1:c.320+234C>T	ENSP00000497503.1:n.320+234C>T
ENST00000648915.2:c.320+234C>T MANE Select	ENSP00000497160.1:n.320+234C>T
ENST00000649545.1:c.54+234C>T
ENST00000649688.1:c.320+234C>T	ENSP00000497097.1:n.320+234C>T
ENST00000649814.1:n.369+234C>T
ENST00000650244.1:c.465+234C>T	ENSP00000497227.1:n.465+234C>T
ENST00000650270.1:c.187+234C>T
ENST00000273783.7:c.320+234C>T	ENSP00000273783.3:n.320+234C>T
ENST00000432569.1:c.*230C>T	ENSP00000414775.1:n.*230C>T
ENST00000432982.5:c.245+295C>T
ENST00000444495.1:c.320+234C>T	ENSP00000409142.1:n.320+234C>T
ENST00000471832.1:n.485C>T
ENST00000481054.5:n.321+234C>T
ENST00000491144.5:n.668+234C>T
ENST00000498831.1:n.176+234C>T
NM_003907.2:c.320+234C>T	NP_003898.2:n.320+234C>T
XR_924208.1:n.1271+234C>T
NM_003907.3:c.320+234C>T MANE Select	NP_003898.2:n.320+234C>T
XM_011513266.3:c.-582+234C>T	XP_011511568.1:n.-582+234C>T
XR_001740352.2:n.683+234C>T
XR_001740353.2:n.683+234C>T
XR_924208.2:n.683+234C>T