Canonical Allele Identifier: CA1425879980

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135445C= , CM000665.2:g.184135445C=	GRCh38
NC_000003.11:g.183853233C= , CM000665.1:g.183853233C=	GRCh37
NC_000003.10:g.185335927C=	NCBI36
NG_015826.1:g.5424C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.60C=	ENSP00000414775.1:p.Ser20=
ENST00000465218.3:n.83C=
ENST00000468748.7:n.43C=
ENST00000471832.2:c.60C=	ENSP00000497786.1:p.Ser20=
ENST00000492226.2:n.57C=
ENST00000647636.1:c.60C=	ENSP00000497505.1:p.Ser20=
ENST00000647909.1:c.60C=	ENSP00000498164.1:p.Ser20=
ENST00000648256.1:c.9C=	ENSP00000497356.1:p.Ser3=
ENST00000648314.1:c.60C=	ENSP00000496920.1:p.Ser20=
ENST00000648599.1:c.60C=	ENSP00000497159.1:p.Ser20=
ENST00000648630.1:c.54C=	ENSP00000497887.1:p.Ser18=
ENST00000648682.1:c.60C=	ENSP00000498185.1:p.Ser20=
ENST00000648882.1:c.60C=	ENSP00000497603.1:p.Ser20=
ENST00000648890.1:c.60C=	ENSP00000497503.1:p.Ser20=
ENST00000648915.2:c.60C= MANE Select	ENSP00000497160.1:p.Ser20=
ENST00000649688.1:c.60C=	ENSP00000497097.1:p.Ser20=
ENST00000649814.1:n.109C=
ENST00000273783.7:c.60C=	ENSP00000273783.3:p.Ser20=
ENST00000432569.1:c.60C=	ENSP00000414775.1:p.Ser20=
ENST00000432982.5:c.46C=
ENST00000444495.1:c.60C=	ENSP00000409142.1:p.Ser20=
ENST00000481054.5:n.61C=
ENST00000491144.5:n.408C=
NM_003907.2:c.60C=	NP_003898.2:p.Ser20=
XR_924208.1:n.1011C=
NM_003907.3:c.60C= MANE Select	NP_003898.2:p.Ser20=
XM_011513266.3:c.-842C=	XP_011511568.1:n.-842C=
XR_001740352.2:n.423C=
XR_001740353.2:n.423C=
XR_924208.2:n.423C=