Canonical Allele Identifier: CA2668796476
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137976_184137983dup , CM000665.2:g.184137976_184137983dup GRCh38
NC_000003.11:g.183855764_183855771dup , CM000665.1:g.183855764_183855771dup GRCh37
NC_000003.10:g.185338458_185338465dup NCBI36
NG_015826.1:g.7955_7962dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.608_615dup
ENST00000468748.7:n.568_575dup
ENST00000484154.2:n.1206_1213dup
ENST00000491008.6:n.1333_1340dup
ENST00000492226.2:n.582_589dup
ENST00000492773.6:c.317_324dup
ENST00000647636.1:c.585_592dup ENSP00000497505.1:p.Glu198ValfsTer8
ENST00000647909.1:c.609_616dup ENSP00000498164.1:p.Glu206ValfsTer8
ENST00000648145.1:c.353_360dup
ENST00000648189.1:c.335_342dup
ENST00000648256.1:c.534_541dup ENSP00000497356.1:p.Glu181ValfsTer8
ENST00000648314.1:c.585_592dup ENSP00000496920.1:p.Glu198ValfsTer8
ENST00000648599.1:c.585_592dup ENSP00000497159.1:p.Glu198ValfsTer8
ENST00000648630.1:c.579_586dup ENSP00000497887.1:p.Glu196ValfsTer8
ENST00000648682.1:c.585_592dup ENSP00000498185.1:p.Glu198ValfsTer8
ENST00000648882.1:c.*411_*418dup ENSP00000497603.1:n.*411_*418dup
ENST00000648890.1:c.585_592dup ENSP00000497503.1:p.Glu198ValfsTer8
ENST00000648915.2:c.585_592dup MANE Select ENSP00000497160.1:p.Glu198ValfsTer8
ENST00000649545.1:c.319_326dup
ENST00000649688.1:c.585_592dup ENSP00000497097.1:p.Glu198ValfsTer8
ENST00000649814.1:n.634_641dup
ENST00000650270.1:c.452_459dup
ENST00000273783.7:c.585_592dup ENSP00000273783.3:p.Glu198ValfsTer8
ENST00000432982.5:c.245+1301_245+1308dup
ENST00000444495.1:c.585_592dup ENSP00000409142.1:p.Glu198ValfsTer8
ENST00000468748.5:n.38_45dup
ENST00000481054.5:n.586_593dup
ENST00000491008.5:n.549_556dup
ENST00000491144.5:n.1025_1032dup
ENST00000498831.1:n.540_547dup
NM_003907.2:c.585_592dup NP_003898.2:p.Glu198ValfsTer8
XR_924208.1:n.1536_1543dup
NM_003907.3:c.585_592dup MANE Select NP_003898.2:p.Glu198ValfsTer8
XM_011513266.3:c.-317_-310dup XP_011511568.1:n.-317_-310dup
XR_001740352.2:n.948_955dup
XR_001740353.2:n.948_955dup
XR_924208.2:n.948_955dup