Canonical Allele Identifier: CA355382014
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137765A>G , CM000665.2:g.184137765A>G GRCh38
NC_000003.11:g.183855553A>G , CM000665.1:g.183855553A>G GRCh37
NC_000003.10:g.185338247A>G NCBI36
NG_015826.1:g.7744A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.489A>G
ENST00000468748.7:n.449A>G
ENST00000484154.2:n.1087A>G
ENST00000491008.6:n.1214A>G
ENST00000492226.2:n.463A>G
ENST00000492773.6:c.198A>G
ENST00000647636.1:c.466A>G ENSP00000497505.1:p.Ile156Val
ENST00000647909.1:c.466A>G ENSP00000498164.1:p.Ile156Val
ENST00000648145.1:c.234A>G
ENST00000648189.1:c.216A>G
ENST00000648256.1:c.415A>G ENSP00000497356.1:p.Ile139Val
ENST00000648314.1:c.466A>G ENSP00000496920.1:p.Ile156Val
ENST00000648599.1:c.466A>G ENSP00000497159.1:p.Ile156Val
ENST00000648630.1:c.460A>G ENSP00000497887.1:p.Ile154Val
ENST00000648682.1:c.466A>G ENSP00000498185.1:p.Ile156Val
ENST00000648882.1:c.*292A>G ENSP00000497603.1:n.*292A>G
ENST00000648890.1:c.466A>G ENSP00000497503.1:p.Ile156Val
ENST00000648915.2:c.466A>G MANE Select ENSP00000497160.1:p.Ile156Val
ENST00000649545.1:c.200A>G
ENST00000649688.1:c.466A>G ENSP00000497097.1:p.Ile156Val
ENST00000649814.1:n.515A>G
ENST00000650244.1:c.611A>G ENSP00000497227.1:n.611A>G
ENST00000650270.1:c.333A>G
ENST00000273783.7:c.466A>G ENSP00000273783.3:p.Ile156Val
ENST00000432982.5:c.245+1090A>G
ENST00000444495.1:c.466A>G ENSP00000409142.1:p.Ile156Val
ENST00000481054.5:n.467A>G
ENST00000491008.5:n.430A>G
ENST00000491144.5:n.814A>G
ENST00000498831.1:n.421A>G
NM_003907.2:c.466A>G NP_003898.2:p.Ile156Val
XR_924208.1:n.1417A>G
NM_003907.3:c.466A>G MANE Select NP_003898.2:p.Ile156Val
XM_011513266.3:c.-436A>G XP_011511568.1:n.-436A>G
XR_001740352.2:n.829A>G
XR_001740353.2:n.829A>G
XR_924208.2:n.829A>G