Canonical Allele Identifier: CA355383452

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140119C>T , CM000665.2:g.184140119C>T	GRCh38
NC_000003.11:g.183857907C>T , CM000665.1:g.183857907C>T	GRCh37
NC_000003.10:g.185340601C>T	NCBI36
NG_015826.1:g.10098C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.828C>T
ENST00000468748.7:n.788C>T
ENST00000484154.2:n.1387-1806C>T
ENST00000491008.6:n.1553C>T
ENST00000492226.2:n.802C>T
ENST00000492773.6:c.559C>T
ENST00000647636.1:c.805C>T	ENSP00000497505.1:p.Arg269Ter
ENST00000647909.1:c.829C>T	ENSP00000498164.1:p.Arg277Ter
ENST00000648145.1:c.573C>T
ENST00000648189.1:c.555C>T
ENST00000648256.1:c.777C>T	ENSP00000497356.1:p.Leu259=
ENST00000648314.1:c.805C>T	ENSP00000496920.1:p.Arg269Ter
ENST00000648599.1:c.*88C>T	ENSP00000497159.1:n.*88C>T
ENST00000648630.1:c.799C>T	ENSP00000497887.1:p.Arg267Ter
ENST00000648682.1:c.805C>T	ENSP00000498185.1:p.Arg269Ter
ENST00000648882.1:c.*631C>T	ENSP00000497603.1:n.*631C>T
ENST00000648890.1:c.805C>T	ENSP00000497503.1:p.Arg269Ter
ENST00000648915.2:c.805C>T MANE Select	ENSP00000497160.1:p.Arg269Ter
ENST00000649545.1:c.539C>T
ENST00000649688.1:c.*88C>T	ENSP00000497097.1:n.*88C>T
ENST00000649814.1:n.854C>T
ENST00000650270.1:c.672C>T
ENST00000273783.7:c.805C>T	ENSP00000273783.3:p.Arg269Ter
ENST00000432982.5:c.246-2118C>T
ENST00000444495.1:c.805C>T	ENSP00000409142.1:p.Arg269Ter
ENST00000468748.5:n.258C>T
ENST00000479833.1:n.121C>T
ENST00000481054.5:n.899C>T
ENST00000491008.5:n.769C>T
ENST00000491144.5:n.1245C>T
NM_003907.2:c.805C>T	NP_003898.2:p.Arg269Ter
XM_011513265.1:c.55C>T	XP_011511567.1:p.Arg19Ter
XR_924208.1:n.1756C>T
NM_003907.3:c.805C>T MANE Select	NP_003898.2:p.Arg269Ter
XM_011513266.3:c.-97C>T	XP_011511568.1:n.-97C>T
XR_001740352.2:n.1168C>T
XR_001740353.2:n.1168C>T
XR_924208.2:n.1168C>T