Canonical Allele Identifier: CA355383431

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1707203
• ClinVar RCV Id: RCV002286119
• MyVariant Identifiers: chr3:g.183857901C>T (hg19) ; chr3:g.184140113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140113C>T , CM000665.2:g.184140113C>T	GRCh38
NC_000003.11:g.183857901C>T , CM000665.1:g.183857901C>T	GRCh37
NC_000003.10:g.185340595C>T	NCBI36
NG_015826.1:g.10092C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.822C>T
ENST00000468748.7:n.782C>T
ENST00000484154.2:n.1387-1812C>T
ENST00000491008.6:n.1547C>T
ENST00000492226.2:n.796C>T
ENST00000492773.6:c.553C>T
ENST00000647636.1:c.799C>T	ENSP00000497505.1:p.Gln267Ter
ENST00000647909.1:c.823C>T	ENSP00000498164.1:p.Gln275Ter
ENST00000648145.1:c.567C>T
ENST00000648189.1:c.549C>T
ENST00000648256.1:c.771C>T	ENSP00000497356.1:p.Thr257=
ENST00000648314.1:c.799C>T	ENSP00000496920.1:p.Gln267Ter
ENST00000648599.1:c.*82C>T	ENSP00000497159.1:n.*82C>T
ENST00000648630.1:c.793C>T	ENSP00000497887.1:p.Gln265Ter
ENST00000648682.1:c.799C>T	ENSP00000498185.1:p.Gln267Ter
ENST00000648882.1:c.*625C>T	ENSP00000497603.1:n.*625C>T
ENST00000648890.1:c.799C>T	ENSP00000497503.1:p.Gln267Ter
ENST00000648915.2:c.799C>T MANE Select	ENSP00000497160.1:p.Gln267Ter
ENST00000649545.1:c.533C>T
ENST00000649688.1:c.*82C>T	ENSP00000497097.1:n.*82C>T
ENST00000649814.1:n.848C>T
ENST00000650270.1:c.666C>T
ENST00000273783.7:c.799C>T	ENSP00000273783.3:p.Gln267Ter
ENST00000432982.5:c.246-2124C>T
ENST00000444495.1:c.799C>T	ENSP00000409142.1:p.Gln267Ter
ENST00000468748.5:n.252C>T
ENST00000479833.1:n.115C>T
ENST00000481054.5:n.893C>T
ENST00000491008.5:n.763C>T
ENST00000491144.5:n.1239C>T
NM_003907.2:c.799C>T	NP_003898.2:p.Gln267Ter
XM_011513265.1:c.49C>T	XP_011511567.1:p.Gln17Ter
XR_924208.1:n.1750C>T
NM_003907.3:c.799C>T MANE Select	NP_003898.2:p.Gln267Ter
XM_011513266.3:c.-103C>T	XP_011511568.1:n.-103C>T
XR_001740352.2:n.1162C>T
XR_001740353.2:n.1162C>T
XR_924208.2:n.1162C>T