Canonical Allele Identifier: CA1425889612

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144111T= , CM000665.2:g.184144111T=	GRCh38
NC_000003.11:g.183861899T= , CM000665.1:g.183861899T=	GRCh37
NC_000003.10:g.185344593T=	NCBI36
NG_015826.1:g.14090T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.2204T=
ENST00000468748.7:n.2957T=
ENST00000484154.2:n.2944T=
ENST00000491008.6:n.2646T=
ENST00000492226.2:n.2981T=
ENST00000492773.6:c.1636T=
ENST00000647636.1:c.*731T=	ENSP00000497505.1:n.*731T=
ENST00000647909.1:c.1906T=	ENSP00000498164.1:p.Trp636=
ENST00000648145.1:c.1674T=
ENST00000648189.1:c.1716T=
ENST00000648256.1:c.1854T=	ENSP00000497356.1:n.1854T=
ENST00000648314.1:c.*1288-17T=	ENSP00000496920.1:n.*1288-17T=
ENST00000648599.1:c.*1165T=	ENSP00000497159.1:n.*1165T=
ENST00000648630.1:c.2060T=	ENSP00000497887.1:n.2060T=
ENST00000648682.1:c.*1021T=	ENSP00000498185.1:n.*1021T=
ENST00000648882.1:c.*1708T=	ENSP00000497603.1:n.*1708T=
ENST00000648890.1:c.*305T=	ENSP00000497503.1:n.*305T=
ENST00000648915.2:c.1882T= MANE Select	ENSP00000497160.1:p.Trp628=
ENST00000649545.1:c.1541T=
ENST00000649688.1:c.*1474T=	ENSP00000497097.1:n.*1474T=
ENST00000649814.1:n.2480T=
ENST00000650270.1:c.1760T=
ENST00000273783.7:c.1882T=	ENSP00000273783.3:p.Trp628=
ENST00000444495.1:c.1882T=	ENSP00000409142.1:p.Trp628=
ENST00000465218.2:n.664T=
ENST00000481054.5:n.2808T=
ENST00000491144.5:n.2386T=
ENST00000492226.1:n.58T=
NM_003907.2:c.1882T=	NP_003898.2:p.Trp628=
XM_011513265.1:c.1132T=	XP_011511567.1:p.Trp378=
XM_011513266.1:c.1045T=	XP_011511568.1:p.Trp349=
XR_924208.1:n.2849T=
NM_003907.3:c.1882T= MANE Select	NP_003898.2:p.Trp628=
XM_011513266.3:c.1045T=	XP_011511568.1:p.Trp349=
XR_001740352.2:n.2256T=
XR_001740353.2:n.2272T=
XR_924208.2:n.2261T=