Canonical Allele Identifier: CA1425882968
Gene: EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137994G= , CM000665.2:g.184137994G= GRCh38
NC_000003.11:g.183855782G= , CM000665.1:g.183855782G= GRCh37
NC_000003.10:g.185338476G= NCBI36
NG_015826.1:g.7973G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.626G=
ENST00000468748.7:n.586G=
ENST00000484154.2:n.1224G=
ENST00000491008.6:n.1351G=
ENST00000492226.2:n.600G=
ENST00000492773.6:c.335G=
ENST00000647636.1:c.603G= ENSP00000497505.1:p.Val201=
ENST00000647909.1:c.627G= ENSP00000498164.1:p.Val209=
ENST00000648145.1:c.371G=
ENST00000648189.1:c.353G=
ENST00000648256.1:c.552G= ENSP00000497356.1:p.Val184=
ENST00000648314.1:c.603G= ENSP00000496920.1:p.Val201=
ENST00000648599.1:c.603G= ENSP00000497159.1:p.Val201=
ENST00000648630.1:c.597G= ENSP00000497887.1:p.Val199=
ENST00000648682.1:c.603G= ENSP00000498185.1:p.Val201=
ENST00000648882.1:c.*429G= ENSP00000497603.1:n.*429G=
ENST00000648890.1:c.603G= ENSP00000497503.1:p.Val201=
ENST00000648915.2:c.603G= MANE Select ENSP00000497160.1:p.Val201=
ENST00000649545.1:c.337G=
ENST00000649688.1:c.603G= ENSP00000497097.1:p.Val201=
ENST00000649814.1:n.652G=
ENST00000650270.1:c.470G=
ENST00000273783.7:c.603G= ENSP00000273783.3:p.Val201=
ENST00000432982.5:c.245+1319G=
ENST00000444495.1:c.603G= ENSP00000409142.1:p.Val201=
ENST00000468748.5:n.56G=
ENST00000481054.5:n.604G=
ENST00000491008.5:n.567G=
ENST00000491144.5:n.1043G=
ENST00000498831.1:n.558G=
NM_003907.2:c.603G= NP_003898.2:p.Val201=
XR_924208.1:n.1554G=
NM_003907.3:c.603G= MANE Select NP_003898.2:p.Val201=
XM_011513266.3:c.-299G= XP_011511568.1:n.-299G=
XR_001740352.2:n.966G=
XR_001740353.2:n.966G=
XR_924208.2:n.966G=