Canonical Allele Identifier: CA88840030
Gene: EIF2B5 HGNC NCBI

Linked Data

dbSNP Id: rs113994042
MyVariant Identifiers: chr3:g.183853334G>C (hg19) chr3:g.184135546G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135546G>C , CM000665.2:g.184135546G>C GRCh38
NC_000003.11:g.183853334G>C , CM000665.1:g.183853334G>C GRCh37
NC_000003.10:g.185336028G>C NCBI36
NG_015826.1:g.5525G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432569.2:c.161G>C ENSP00000414775.1:p.Arg54Pro
ENST00000465218.3:n.184G>C
ENST00000468748.7:n.144G>C
ENST00000471832.2:c.161G>C ENSP00000497786.1:p.Arg54Pro
ENST00000491008.6:n.26G>C
ENST00000492226.2:n.158G>C
ENST00000647636.1:c.161G>C ENSP00000497505.1:p.Arg54Pro
ENST00000647909.1:c.161G>C ENSP00000498164.1:p.Arg54Pro
ENST00000648256.1:c.110G>C ENSP00000497356.1:p.Arg37Pro
ENST00000648314.1:c.161G>C ENSP00000496920.1:p.Arg54Pro
ENST00000648599.1:c.161G>C ENSP00000497159.1:p.Arg54Pro
ENST00000648630.1:c.155G>C ENSP00000497887.1:p.Arg52Pro
ENST00000648682.1:c.161G>C ENSP00000498185.1:p.Arg54Pro
ENST00000648882.1:c.161G>C ENSP00000497603.1:p.Arg54Pro
ENST00000648890.1:c.161G>C ENSP00000497503.1:p.Arg54Pro
ENST00000648915.2:c.161G>C MANE Select ENSP00000497160.1:p.Arg54Pro
ENST00000649688.1:c.161G>C ENSP00000497097.1:p.Arg54Pro
ENST00000649814.1:n.210G>C
ENST00000650244.1:c.53G>C ENSP00000497227.1:p.Arg18Pro
ENST00000650270.1:c.28G>C
ENST00000273783.7:c.161G>C ENSP00000273783.3:p.Arg54Pro
ENST00000432569.1:c.161G>C ENSP00000414775.1:p.Arg54Pro
ENST00000432982.5:c.147G>C
ENST00000444495.1:c.161G>C ENSP00000409142.1:p.Arg54Pro
ENST00000481054.5:n.162G>C
ENST00000491144.5:n.509G>C
NM_003907.2:c.161G>C NP_003898.2:p.Arg54Pro
XR_924208.1:n.1112G>C
NM_003907.3:c.161G>C MANE Select NP_003898.2:p.Arg54Pro
XM_011513266.3:c.-741G>C XP_011511568.1:n.-741G>C
XR_001740352.2:n.524G>C
XR_001740353.2:n.524G>C
XR_924208.2:n.524G>C
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