Canonical Allele Identifier: CA88842884
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs113994066

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184140541C>T , CM000665.2:g.184140541C>T GRCh38
NC_000003.11:g.183858329C>T , CM000665.1:g.183858329C>T GRCh37
NC_000003.10:g.185341023C>T NCBI36
NG_015826.1:g.10520C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000465218.3:n.990C>T
ENST00000468748.7:n.1210C>T
ENST00000484154.2:n.1387-1384C>T
ENST00000491008.6:n.1715C>T
ENST00000492226.2:n.1224C>T
ENST00000492773.6:c.721C>T
ENST00000647636.1:c.967C>T ENSP00000497505.1:p.Pro323Ser
ENST00000647909.1:c.991C>T ENSP00000498164.1:p.Pro331Ser
ENST00000648145.1:c.735C>T
ENST00000648189.1:c.781C>T
ENST00000648256.1:c.939C>T ENSP00000497356.1:n.939C>T
ENST00000648314.1:c.*86C>T ENSP00000496920.1:n.*86C>T
ENST00000648599.1:c.*250C>T ENSP00000497159.1:n.*250C>T
ENST00000648630.1:c.961C>T ENSP00000497887.1:p.Pro321Ser
ENST00000648682.1:c.967C>T ENSP00000498185.1:p.Pro323Ser
ENST00000648882.1:c.*793C>T ENSP00000497603.1:n.*793C>T
ENST00000648890.1:c.967C>T ENSP00000497503.1:p.Pro323Ser
ENST00000648915.2:c.967C>T MANE Select ENSP00000497160.1:p.Pro323Ser
ENST00000649545.1:c.577+384C>T
ENST00000649688.1:c.*250C>T ENSP00000497097.1:n.*250C>T
ENST00000649814.1:n.1016C>T
ENST00000650270.1:c.834C>T
ENST00000273783.7:c.967C>T ENSP00000273783.3:p.Pro323Ser
ENST00000432982.5:c.246-1696C>T
ENST00000444495.1:c.967C>T ENSP00000409142.1:p.Pro323Ser
ENST00000479833.1:n.283C>T
ENST00000481054.5:n.1061C>T
ENST00000491144.5:n.1471C>T
ENST00000493740.1:n.197C>T
NM_003907.2:c.967C>T NP_003898.2:p.Pro323Ser
XM_011513265.1:c.217C>T XP_011511567.1:p.Pro73Ser
XM_011513266.1:c.130C>T XP_011511568.1:p.Pro44Ser
XR_924208.1:n.1918C>T
NM_003907.3:c.967C>T MANE Select NP_003898.2:p.Pro323Ser
XM_011513266.3:c.130C>T XP_011511568.1:p.Pro44Ser
XR_001740352.2:n.1330C>T
XR_001740353.2:n.1330C>T
XR_924208.2:n.1330C>T