Canonical Allele Identifier: CA355381755

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855424C>A (hg19) ; chr3:g.184137636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137636C>A , CM000665.2:g.184137636C>A	GRCh38
NC_000003.11:g.183855424C>A , CM000665.1:g.183855424C>A	GRCh37
NC_000003.10:g.185338118C>A	NCBI36
NG_015826.1:g.7615C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.360C>A
ENST00000468748.7:n.320C>A
ENST00000484154.2:n.958C>A
ENST00000491008.6:n.1085C>A
ENST00000492226.2:n.334C>A
ENST00000492773.6:c.69C>A
ENST00000647636.1:c.337C>A	ENSP00000497505.1:p.Arg113Ser
ENST00000647909.1:c.337C>A	ENSP00000498164.1:p.Arg113Ser
ENST00000648145.1:c.105C>A
ENST00000648189.1:c.87C>A
ENST00000648256.1:c.286C>A	ENSP00000497356.1:p.Arg96Ser
ENST00000648314.1:c.337C>A	ENSP00000496920.1:p.Arg113Ser
ENST00000648599.1:c.337C>A	ENSP00000497159.1:p.Arg113Ser
ENST00000648630.1:c.331C>A	ENSP00000497887.1:p.Arg111Ser
ENST00000648682.1:c.337C>A	ENSP00000498185.1:p.Arg113Ser
ENST00000648882.1:c.*163C>A	ENSP00000497603.1:n.*163C>A
ENST00000648890.1:c.337C>A	ENSP00000497503.1:p.Arg113Ser
ENST00000648915.2:c.337C>A MANE Select	ENSP00000497160.1:p.Arg113Ser
ENST00000649545.1:c.71C>A
ENST00000649688.1:c.337C>A	ENSP00000497097.1:p.Arg113Ser
ENST00000649814.1:n.386C>A
ENST00000650244.1:c.482C>A	ENSP00000497227.1:n.482C>A
ENST00000650270.1:c.204C>A
ENST00000273783.7:c.337C>A	ENSP00000273783.3:p.Arg113Ser
ENST00000432982.5:c.245+961C>A
ENST00000444495.1:c.337C>A	ENSP00000409142.1:p.Arg113Ser
ENST00000481054.5:n.338C>A
ENST00000491008.5:n.301C>A
ENST00000491144.5:n.685C>A
ENST00000498831.1:n.292C>A
NM_003907.2:c.337C>A	NP_003898.2:p.Arg113Ser
XR_924208.1:n.1288C>A
NM_003907.3:c.337C>A MANE Select	NP_003898.2:p.Arg113Ser
XM_011513266.3:c.-565C>A	XP_011511568.1:n.-565C>A
XR_001740352.2:n.700C>A
XR_001740353.2:n.700C>A
XR_924208.2:n.700C>A