Canonical Allele Identifier: CA88844167
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs113994085
MyVariant Identifiers: chr3:g.183861965G>A (hg19) chr3:g.184144177G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184144177G>A , CM000665.2:g.184144177G>A GRCh38
NC_000003.11:g.183861965G>A , CM000665.1:g.183861965G>A GRCh37
NC_000003.10:g.185344659G>A NCBI36
NG_015826.1:g.14156G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000465218.3:n.2270G>A
ENST00000468748.7:n.3023G>A
ENST00000484154.2:n.3010G>A
ENST00000491008.6:n.2712G>A
ENST00000492226.2:n.3047G>A
ENST00000492773.6:c.1702G>A
ENST00000647636.1:c.*797G>A ENSP00000497505.1:n.*797G>A
ENST00000647909.1:c.1972G>A ENSP00000498164.1:p.Glu658Lys
ENST00000648145.1:c.1740G>A
ENST00000648189.1:c.1782G>A
ENST00000648256.1:c.1920G>A ENSP00000497356.1:n.1920G>A
ENST00000648314.1:c.*1337G>A ENSP00000496920.1:n.*1337G>A
ENST00000648599.1:c.*1231G>A ENSP00000497159.1:n.*1231G>A
ENST00000648630.1:c.2126G>A ENSP00000497887.1:n.2126G>A
ENST00000648682.1:c.*1087G>A ENSP00000498185.1:n.*1087G>A
ENST00000648882.1:c.*1774G>A ENSP00000497603.1:n.*1774G>A
ENST00000648890.1:c.*371G>A ENSP00000497503.1:n.*371G>A
ENST00000648915.2:c.1948G>A MANE Select ENSP00000497160.1:p.Glu650Lys
ENST00000649545.1:c.1607G>A
ENST00000649688.1:c.*1540G>A ENSP00000497097.1:n.*1540G>A
ENST00000649814.1:n.2546G>A
ENST00000650270.1:c.1826G>A
ENST00000273783.7:c.1948G>A ENSP00000273783.3:p.Glu650Lys
ENST00000444495.1:c.1948G>A ENSP00000409142.1:p.Glu650Lys
ENST00000465218.2:n.730G>A
ENST00000481054.5:n.2874G>A
ENST00000491144.5:n.2452G>A
ENST00000492226.1:n.124G>A
NM_003907.2:c.1948G>A NP_003898.2:p.Glu650Lys
XM_011513265.1:c.1198G>A XP_011511567.1:p.Glu400Lys
XM_011513266.1:c.1111G>A XP_011511568.1:p.Glu371Lys
XR_924208.1:n.2915G>A
NM_003907.3:c.1948G>A MANE Select NP_003898.2:p.Glu650Lys
XM_011513266.3:c.1111G>A XP_011511568.1:p.Glu371Lys
XR_001740352.2:n.2322G>A
XR_001740353.2:n.2338G>A
XR_924208.2:n.2327G>A
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