Canonical Allele Identifier: CA1425887904

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142541A= , CM000665.2:g.184142541A=	GRCh38
NC_000003.11:g.183860329A= , CM000665.1:g.183860329A=	GRCh37
NC_000003.10:g.185343023A=	NCBI36
NG_015826.1:g.12520A=

Transcript Alleles

HGVS	Amino-acid Change
NM_003907.3:c.1484A= MANE Select	NP_003898.2:p.Tyr495=
ENST00000648915.2:c.1484A= MANE Select	ENSP00000497160.1:p.Tyr495=
NM_003907.2:c.1484A=	NP_003898.2:p.Tyr495=
ENST00000273783.7:c.1484A=	ENSP00000273783.3:p.Tyr495=
ENST00000432982.5:c.427A=
ENST00000444495.1:c.1484A=	ENSP00000409142.1:p.Tyr495=
ENST00000465218.3:n.1507A=
ENST00000468748.7:n.1727A=
ENST00000479250.1:n.311A=
ENST00000481054.5:n.1578A=
ENST00000484154.2:n.1714A=
ENST00000491008.6:n.2248A=
ENST00000491144.5:n.1988A=
ENST00000492226.2:n.1751A=
ENST00000492773.5:n.383A=
ENST00000492773.6:c.1238A=
ENST00000647636.1:c.*333A=	ENSP00000497505.1:n.*333A=
ENST00000647909.1:c.1508A=	ENSP00000498164.1:p.Tyr503=
ENST00000648145.1:c.1256A=
ENST00000648189.1:c.1318A=
ENST00000648256.1:c.1456A=	ENSP00000497356.1:n.1456A=
ENST00000648314.1:c.*603A=	ENSP00000496920.1:n.*603A=
ENST00000648599.1:c.*767A=	ENSP00000497159.1:n.*767A=
ENST00000648630.1:c.1363A=	ENSP00000497887.1:n.1363A=
ENST00000648682.1:c.*324A=	ENSP00000498185.1:n.*324A=
ENST00000648882.1:c.*1310A=	ENSP00000497603.1:n.*1310A=
ENST00000648890.1:c.1500A=	ENSP00000497503.1:p.Leu500=
ENST00000649545.1:c.844A=
ENST00000649688.1:c.*777A=	ENSP00000497097.1:n.*777A=
ENST00000649814.1:n.1549A=
ENST00000650270.1:c.1351A=
XM_011513265.1:c.734A=	XP_011511567.1:p.Tyr245=
XM_011513266.1:c.647A=	XP_011511568.1:p.Tyr216=
XM_011513266.3:c.647A=	XP_011511568.1:p.Tyr216=
XR_001740352.2:n.1847A=
XR_001740353.2:n.1863A=
XR_924208.1:n.2451A=
XR_924208.2:n.1863A=