Canonical Allele Identifier: CA355381757

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855425G>T (hg19) ; chr3:g.184137637G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137637G>T , CM000665.2:g.184137637G>T	GRCh38
NC_000003.11:g.183855425G>T , CM000665.1:g.183855425G>T	GRCh37
NC_000003.10:g.185338119G>T	NCBI36
NG_015826.1:g.7616G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.361G>T
ENST00000468748.7:n.321G>T
ENST00000484154.2:n.959G>T
ENST00000491008.6:n.1086G>T
ENST00000492226.2:n.335G>T
ENST00000492773.6:c.70G>T
ENST00000647636.1:c.338G>T	ENSP00000497505.1:p.Arg113Leu
ENST00000647909.1:c.338G>T	ENSP00000498164.1:p.Arg113Leu
ENST00000648145.1:c.106G>T
ENST00000648189.1:c.88G>T
ENST00000648256.1:c.287G>T	ENSP00000497356.1:p.Arg96Leu
ENST00000648314.1:c.338G>T	ENSP00000496920.1:p.Arg113Leu
ENST00000648599.1:c.338G>T	ENSP00000497159.1:p.Arg113Leu
ENST00000648630.1:c.332G>T	ENSP00000497887.1:p.Arg111Leu
ENST00000648682.1:c.338G>T	ENSP00000498185.1:p.Arg113Leu
ENST00000648882.1:c.*164G>T	ENSP00000497603.1:n.*164G>T
ENST00000648890.1:c.338G>T	ENSP00000497503.1:p.Arg113Leu
ENST00000648915.2:c.338G>T MANE Select	ENSP00000497160.1:p.Arg113Leu
ENST00000649545.1:c.72G>T
ENST00000649688.1:c.338G>T	ENSP00000497097.1:p.Arg113Leu
ENST00000649814.1:n.387G>T
ENST00000650244.1:c.483G>T	ENSP00000497227.1:n.483G>T
ENST00000650270.1:c.205G>T
ENST00000273783.7:c.338G>T	ENSP00000273783.3:p.Arg113Leu
ENST00000432982.5:c.245+962G>T
ENST00000444495.1:c.338G>T	ENSP00000409142.1:p.Arg113Leu
ENST00000481054.5:n.339G>T
ENST00000491008.5:n.302G>T
ENST00000491144.5:n.686G>T
ENST00000498831.1:n.293G>T
NM_003907.2:c.338G>T	NP_003898.2:p.Arg113Leu
XR_924208.1:n.1289G>T
NM_003907.3:c.338G>T MANE Select	NP_003898.2:p.Arg113Leu
XM_011513266.3:c.-564G>T	XP_011511568.1:n.-564G>T
XR_001740352.2:n.701G>T
XR_001740353.2:n.701G>T
XR_924208.2:n.701G>T