Canonical Allele Identifier: CA437323373

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855480G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137692G>T , CM000665.2:g.184137692G>T	GRCh38
NC_000003.11:g.183855480G>T , CM000665.1:g.183855480G>T	GRCh37
NC_000003.10:g.185338174G>T	NCBI36
NG_015826.1:g.7671G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.416G>T
ENST00000468748.7:n.376G>T
ENST00000484154.2:n.1014G>T
ENST00000491008.6:n.1141G>T
ENST00000492226.2:n.390G>T
ENST00000492773.6:c.125G>T
ENST00000647636.1:c.393G>T	ENSP00000497505.1:p.Leu131=
ENST00000647909.1:c.393G>T	ENSP00000498164.1:p.Leu131=
ENST00000648145.1:c.161G>T
ENST00000648189.1:c.143G>T
ENST00000648256.1:c.342G>T	ENSP00000497356.1:p.Leu114=
ENST00000648314.1:c.393G>T	ENSP00000496920.1:p.Leu131=
ENST00000648599.1:c.393G>T	ENSP00000497159.1:p.Leu131=
ENST00000648630.1:c.387G>T	ENSP00000497887.1:p.Leu129=
ENST00000648682.1:c.393G>T	ENSP00000498185.1:p.Leu131=
ENST00000648882.1:c.*219G>T	ENSP00000497603.1:n.*219G>T
ENST00000648890.1:c.393G>T	ENSP00000497503.1:p.Leu131=
ENST00000648915.2:c.393G>T MANE Select	ENSP00000497160.1:p.Leu131=
ENST00000649545.1:c.127G>T
ENST00000649688.1:c.393G>T	ENSP00000497097.1:p.Leu131=
ENST00000649814.1:n.442G>T
ENST00000650244.1:c.538G>T	ENSP00000497227.1:n.538G>T
ENST00000650270.1:c.260G>T
ENST00000273783.7:c.393G>T	ENSP00000273783.3:p.Leu131=
ENST00000432982.5:c.245+1017G>T
ENST00000444495.1:c.393G>T	ENSP00000409142.1:p.Leu131=
ENST00000481054.5:n.394G>T
ENST00000491008.5:n.357G>T
ENST00000491144.5:n.741G>T
ENST00000498831.1:n.348G>T
NM_003907.2:c.393G>T	NP_003898.2:p.Leu131=
XR_924208.1:n.1344G>T
NM_003907.3:c.393G>T MANE Select	NP_003898.2:p.Leu131=
XM_011513266.3:c.-509G>T	XP_011511568.1:n.-509G>T
XR_001740352.2:n.756G>T
XR_001740353.2:n.756G>T
XR_924208.2:n.756G>T