Canonical Allele Identifier: CA1425887249

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142042T= , CM000665.2:g.184142042T=	GRCh38
NC_000003.11:g.183859830T= , CM000665.1:g.183859830T=	GRCh37
NC_000003.10:g.185342524T=	NCBI36
NG_015826.1:g.12021T=

Transcript Alleles

HGVS	Amino-acid Change
NM_003907.3:c.1274T= MANE Select	NP_003898.2:p.Leu425=
ENST00000648915.2:c.1274T= MANE Select	ENSP00000497160.1:p.Leu425=
NM_003907.2:c.1274T=	NP_003898.2:p.Leu425=
ENST00000273783.7:c.1274T=	ENSP00000273783.3:p.Leu425=
ENST00000432982.5:c.246-195T=
ENST00000444495.1:c.1274T=	ENSP00000409142.1:p.Leu425=
ENST00000465218.3:n.1297T=
ENST00000468748.7:n.1517T=
ENST00000479833.1:n.475T=
ENST00000481054.5:n.1368T=
ENST00000484154.2:n.1504T=
ENST00000491008.6:n.2022T=
ENST00000491144.5:n.1778T=
ENST00000492226.2:n.1541T=
ENST00000492773.5:n.157T=
ENST00000492773.6:c.1028T=
ENST00000647636.1:c.*123T=	ENSP00000497505.1:n.*123T=
ENST00000647909.1:c.1298T=	ENSP00000498164.1:p.Leu433=
ENST00000648145.1:c.1046T=
ENST00000648189.1:c.1092T=
ENST00000648256.1:c.1246T=	ENSP00000497356.1:n.1246T=
ENST00000648314.1:c.*393T=	ENSP00000496920.1:n.*393T=
ENST00000648599.1:c.*557T=	ENSP00000497159.1:n.*557T=
ENST00000648630.1:c.1153T=	ENSP00000497887.1:n.1153T=
ENST00000648682.1:c.*114T=	ENSP00000498185.1:n.*114T=
ENST00000648882.1:c.*1100T=	ENSP00000497603.1:n.*1100T=
ENST00000648890.1:c.1274T=	ENSP00000497503.1:p.Leu425=
ENST00000649545.1:c.695T=
ENST00000649688.1:c.*567T=	ENSP00000497097.1:n.*567T=
ENST00000649814.1:n.1323T=
ENST00000650270.1:c.1141T=
XM_011513265.1:c.524T=	XP_011511567.1:p.Leu175=
XM_011513266.1:c.437T=	XP_011511568.1:p.Leu146=
XM_011513266.3:c.437T=	XP_011511568.1:p.Leu146=
XR_001740352.2:n.1637T=
XR_001740353.2:n.1637T=
XR_924208.1:n.2225T=
XR_924208.2:n.1637T=