Canonical Allele Identifier: CA1425887056

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141928A= , CM000665.2:g.184141928A=	GRCh38
NC_000003.11:g.183859716A= , CM000665.1:g.183859716A=	GRCh37
NC_000003.10:g.185342410A=	NCBI36
NG_015826.1:g.11907A=

Transcript Alleles

HGVS	Amino-acid Change
NM_003907.3:c.1160A= MANE Select	NP_003898.2:p.Asp387=
ENST00000648915.2:c.1160A= MANE Select	ENSP00000497160.1:p.Asp387=
NM_003907.2:c.1160A=	NP_003898.2:p.Asp387=
ENST00000273783.7:c.1160A=	ENSP00000273783.3:p.Asp387=
ENST00000432982.5:c.246-309A=
ENST00000444495.1:c.1160A=	ENSP00000409142.1:p.Asp387=
ENST00000465218.3:n.1183A=
ENST00000468748.7:n.1403A=
ENST00000479833.1:n.361A=
ENST00000481054.5:n.1254A=
ENST00000484154.2:n.1390A=
ENST00000491008.6:n.1908A=
ENST00000491144.5:n.1664A=
ENST00000492226.2:n.1427A=
ENST00000492773.5:n.43A=
ENST00000492773.6:c.914A=
ENST00000647636.1:c.*9A=	ENSP00000497505.1:n.*9A=
ENST00000647909.1:c.1184A=	ENSP00000498164.1:p.Asp395=
ENST00000648145.1:c.932A=
ENST00000648189.1:c.978A=
ENST00000648256.1:c.1132A=	ENSP00000497356.1:n.1132A=
ENST00000648314.1:c.*279A=	ENSP00000496920.1:n.*279A=
ENST00000648599.1:c.*443A=	ENSP00000497159.1:n.*443A=
ENST00000648630.1:c.1039A=	ENSP00000497887.1:p.Ile347=
ENST00000648682.1:c.1170A=	ENSP00000498185.1:p.Ter390=
ENST00000648882.1:c.*986A=	ENSP00000497603.1:n.*986A=
ENST00000648890.1:c.1160A=	ENSP00000497503.1:p.Asp387=
ENST00000649545.1:c.581A=
ENST00000649688.1:c.*453A=	ENSP00000497097.1:n.*453A=
ENST00000649814.1:n.1209A=
ENST00000650270.1:c.1027A=
XM_011513265.1:c.410A=	XP_011511567.1:p.Asp137=
XM_011513266.1:c.323A=	XP_011511568.1:p.Asp108=
XM_011513266.3:c.323A=	XP_011511568.1:p.Asp108=
XR_001740352.2:n.1523A=
XR_001740353.2:n.1523A=
XR_924208.1:n.2111A=
XR_924208.2:n.1523A=