Canonical Allele Identifier: CA1425885902

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140727A= , CM000665.2:g.184140727A=	GRCh38
NC_000003.11:g.183858515A= , CM000665.1:g.183858515A=	GRCh37
NC_000003.10:g.185341209A=	NCBI36
NG_015826.1:g.10706A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1176A=
ENST00000468748.7:n.1396A=
ENST00000484154.2:n.1387-1198A=
ENST00000491008.6:n.1901A=
ENST00000492226.2:n.1410A=
ENST00000492773.6:c.907A=
ENST00000647636.1:c.1153A=	ENSP00000497505.1:p.Ile385=
ENST00000647909.1:c.1177A=	ENSP00000498164.1:p.Ile393=
ENST00000648145.1:c.921A=
ENST00000648189.1:c.967A=
ENST00000648256.1:c.1125A=	ENSP00000497356.1:n.1125A=
ENST00000648314.1:c.*272A=	ENSP00000496920.1:n.*272A=
ENST00000648599.1:c.*436A=	ENSP00000497159.1:n.*436A=
ENST00000648630.1:c.1035+112A=	ENSP00000497887.1:n.1035+112A=
ENST00000648682.1:c.1153A=	ENSP00000498185.1:p.Ile385=
ENST00000648882.1:c.*979A=	ENSP00000497603.1:n.*979A=
ENST00000648890.1:c.1153A=	ENSP00000497503.1:p.Ile385=
ENST00000648915.2:c.1153A= MANE Select	ENSP00000497160.1:p.Ile385=
ENST00000649545.1:c.577+570A=
ENST00000649688.1:c.*436A=	ENSP00000497097.1:n.*436A=
ENST00000649814.1:n.1202A=
ENST00000650270.1:c.1020A=
ENST00000273783.7:c.1153A=	ENSP00000273783.3:p.Ile385=
ENST00000432982.5:c.246-1510A=
ENST00000444495.1:c.1153A=	ENSP00000409142.1:p.Ile385=
ENST00000479833.1:n.357+112A=
ENST00000481054.5:n.1247A=
ENST00000491144.5:n.1657A=
ENST00000492773.5:n.36A=
ENST00000493740.1:n.383A=
NM_003907.2:c.1153A=	NP_003898.2:p.Ile385=
XM_011513265.1:c.403A=	XP_011511567.1:p.Ile135=
XM_011513266.1:c.316A=	XP_011511568.1:p.Ile106=
XR_924208.1:n.2104A=
NM_003907.3:c.1153A= MANE Select	NP_003898.2:p.Ile385=
XM_011513266.3:c.316A=	XP_011511568.1:p.Ile106=
XR_001740352.2:n.1516A=
XR_001740353.2:n.1516A=
XR_924208.2:n.1516A=