Canonical Allele Identifier: CA88840496
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs2932659

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184138077T>G , CM000665.2:g.184138077T>G GRCh38
NC_000003.11:g.183855865T>G , CM000665.1:g.183855865T>G GRCh37
NC_000003.10:g.185338559T>G NCBI36
NG_015826.1:g.8056T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.707+2T>G
ENST00000468748.7:n.667+2T>G
ENST00000484154.2:n.1305+2T>G
ENST00000491008.6:n.1432+2T>G
ENST00000492226.2:n.681+2T>G
ENST00000492773.6:c.416+2T>G
ENST00000647636.1:c.684+2T>G ENSP00000497505.1:n.684+2T>G
ENST00000647909.1:c.708+2T>G ENSP00000498164.1:n.708+2T>G
ENST00000648145.1:c.452+2T>G
ENST00000648189.1:c.434+2T>G
ENST00000648256.1:c.633+2T>G ENSP00000497356.1:n.633+2T>G
ENST00000648314.1:c.684+2T>G ENSP00000496920.1:n.684+2T>G
ENST00000648599.1:c.684+2T>G ENSP00000497159.1:n.684+2T>G
ENST00000648630.1:c.678+2T>G ENSP00000497887.1:n.678+2T>G
ENST00000648682.1:c.684+2T>G ENSP00000498185.1:n.684+2T>G
ENST00000648882.1:c.*510+2T>G ENSP00000497603.1:n.*510+2T>G
ENST00000648890.1:c.684+2T>G ENSP00000497503.1:n.684+2T>G
ENST00000648915.2:c.684+2T>G MANE Select ENSP00000497160.1:n.684+2T>G
ENST00000649545.1:c.418+2T>G
ENST00000649688.1:c.684+2T>G ENSP00000497097.1:n.684+2T>G
ENST00000649814.1:n.733+2T>G
ENST00000650270.1:c.551+2T>G
ENST00000273783.7:c.684+2T>G ENSP00000273783.3:n.684+2T>G
ENST00000432982.5:c.245+1402T>G
ENST00000444495.1:c.684+2T>G ENSP00000409142.1:n.684+2T>G
ENST00000468748.5:n.137+2T>G
ENST00000481054.5:n.685+2T>G
ENST00000491008.5:n.648+2T>G
ENST00000491144.5:n.1124+2T>G
NM_003907.2:c.684+2T>G NP_003898.2:n.684+2T>G
XR_924208.1:n.1635+2T>G
NM_003907.3:c.684+2T>G MANE Select NP_003898.2:n.684+2T>G
XM_011513266.3:c.-218+2T>G XP_011511568.1:n.-218+2T>G
XR_001740352.2:n.1047+2T>G
XR_001740353.2:n.1047+2T>G
XR_924208.2:n.1047+2T>G