Canonical Allele Identifier: CA1425880236

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135554T= , CM000665.2:g.184135554T=	GRCh38
NC_000003.11:g.183853342T= , CM000665.1:g.183853342T=	GRCh37
NC_000003.10:g.185336036T=	NCBI36
NG_015826.1:g.5533T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.169T=	ENSP00000414775.1:p.Phe57=
ENST00000465218.3:n.192T=
ENST00000468748.7:n.152T=
ENST00000471832.2:c.169T=	ENSP00000497786.1:p.Phe57=
ENST00000491008.6:n.34T=
ENST00000492226.2:n.166T=
ENST00000647636.1:c.169T=	ENSP00000497505.1:p.Phe57=
ENST00000647909.1:c.169T=	ENSP00000498164.1:p.Phe57=
ENST00000648256.1:c.118T=	ENSP00000497356.1:p.Phe40=
ENST00000648314.1:c.169T=	ENSP00000496920.1:p.Phe57=
ENST00000648599.1:c.169T=	ENSP00000497159.1:p.Phe57=
ENST00000648630.1:c.163T=	ENSP00000497887.1:p.Phe55=
ENST00000648682.1:c.169T=	ENSP00000498185.1:p.Phe57=
ENST00000648882.1:c.169T=	ENSP00000497603.1:p.Phe57=
ENST00000648890.1:c.169T=	ENSP00000497503.1:p.Phe57=
ENST00000648915.2:c.169T= MANE Select	ENSP00000497160.1:p.Phe57=
ENST00000649688.1:c.169T=	ENSP00000497097.1:p.Phe57=
ENST00000649814.1:n.218T=
ENST00000650244.1:c.61T=	ENSP00000497227.1:p.Phe21=
ENST00000650270.1:c.36T=
ENST00000273783.7:c.169T=	ENSP00000273783.3:p.Phe57=
ENST00000432569.1:c.169T=	ENSP00000414775.1:p.Phe57=
ENST00000432982.5:c.155T=
ENST00000444495.1:c.169T=	ENSP00000409142.1:p.Phe57=
ENST00000481054.5:n.170T=
ENST00000491144.5:n.517T=
NM_003907.2:c.169T=	NP_003898.2:p.Phe57=
XR_924208.1:n.1120T=
NM_003907.3:c.169T= MANE Select	NP_003898.2:p.Phe57=
XM_011513266.3:c.-733T=	XP_011511568.1:n.-733T=
XR_001740352.2:n.532T=
XR_001740353.2:n.532T=
XR_924208.2:n.532T=