Canonical Allele Identifier: CA1425887205

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142032C= , CM000665.2:g.184142032C=	GRCh38
NC_000003.11:g.183859820C= , CM000665.1:g.183859820C=	GRCh37
NC_000003.10:g.185342514C=	NCBI36
NG_015826.1:g.12011C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1287C=
ENST00000468748.7:n.1507C=
ENST00000484154.2:n.1494C=
ENST00000491008.6:n.2012C=
ENST00000492226.2:n.1531C=
ENST00000492773.6:c.1018C=
ENST00000647636.1:c.*113C=	ENSP00000497505.1:n.*113C=
ENST00000647909.1:c.1288C=	ENSP00000498164.1:p.Arg430=
ENST00000648145.1:c.1036C=
ENST00000648189.1:c.1082C=
ENST00000648256.1:c.1236C=	ENSP00000497356.1:n.1236C=
ENST00000648314.1:c.*383C=	ENSP00000496920.1:n.*383C=
ENST00000648599.1:c.*547C=	ENSP00000497159.1:n.*547C=
ENST00000648630.1:c.1143C=	ENSP00000497887.1:p.Asn381=
ENST00000648682.1:c.*104C=	ENSP00000498185.1:n.*104C=
ENST00000648882.1:c.*1090C=	ENSP00000497603.1:n.*1090C=
ENST00000648890.1:c.1264C=	ENSP00000497503.1:p.Arg422=
ENST00000648915.2:c.1264C= MANE Select	ENSP00000497160.1:p.Arg422=
ENST00000649545.1:c.685C=
ENST00000649688.1:c.*557C=	ENSP00000497097.1:n.*557C=
ENST00000649814.1:n.1313C=
ENST00000650270.1:c.1131C=
ENST00000273783.7:c.1264C=	ENSP00000273783.3:p.Arg422=
ENST00000432982.5:c.246-205C=
ENST00000444495.1:c.1264C=	ENSP00000409142.1:p.Arg422=
ENST00000479833.1:n.465C=
ENST00000481054.5:n.1358C=
ENST00000491144.5:n.1768C=
ENST00000492773.5:n.147C=
NM_003907.2:c.1264C=	NP_003898.2:p.Arg422=
XM_011513265.1:c.514C=	XP_011511567.1:p.Arg172=
XM_011513266.1:c.427C=	XP_011511568.1:p.Arg143=
XR_924208.1:n.2215C=
NM_003907.3:c.1264C= MANE Select	NP_003898.2:p.Arg422=
XM_011513266.3:c.427C=	XP_011511568.1:p.Arg143=
XR_001740352.2:n.1627C=
XR_001740353.2:n.1627C=
XR_924208.2:n.1627C=