Canonical Allele Identifier: CA437147493

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857900C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140112C>T , CM000665.2:g.184140112C>T	GRCh38
NC_000003.11:g.183857900C>T , CM000665.1:g.183857900C>T	GRCh37
NC_000003.10:g.185340594C>T	NCBI36
NG_015826.1:g.10091C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.821C>T
ENST00000468748.7:n.781C>T
ENST00000484154.2:n.1387-1813C>T
ENST00000491008.6:n.1546C>T
ENST00000492226.2:n.795C>T
ENST00000492773.6:c.552C>T
ENST00000647636.1:c.798C>T	ENSP00000497505.1:p.Tyr266=
ENST00000647909.1:c.822C>T	ENSP00000498164.1:p.Tyr274=
ENST00000648145.1:c.566C>T
ENST00000648189.1:c.548C>T
ENST00000648256.1:c.770C>T	ENSP00000497356.1:p.Thr257Ile
ENST00000648314.1:c.798C>T	ENSP00000496920.1:p.Tyr266=
ENST00000648599.1:c.*81C>T	ENSP00000497159.1:n.*81C>T
ENST00000648630.1:c.792C>T	ENSP00000497887.1:p.Tyr264=
ENST00000648682.1:c.798C>T	ENSP00000498185.1:p.Tyr266=
ENST00000648882.1:c.*624C>T	ENSP00000497603.1:n.*624C>T
ENST00000648890.1:c.798C>T	ENSP00000497503.1:p.Tyr266=
ENST00000648915.2:c.798C>T MANE Select	ENSP00000497160.1:p.Tyr266=
ENST00000649545.1:c.532C>T
ENST00000649688.1:c.*81C>T	ENSP00000497097.1:n.*81C>T
ENST00000649814.1:n.847C>T
ENST00000650270.1:c.665C>T
ENST00000273783.7:c.798C>T	ENSP00000273783.3:p.Tyr266=
ENST00000432982.5:c.246-2125C>T
ENST00000444495.1:c.798C>T	ENSP00000409142.1:p.Tyr266=
ENST00000468748.5:n.251C>T
ENST00000479833.1:n.114C>T
ENST00000481054.5:n.892C>T
ENST00000491008.5:n.762C>T
ENST00000491144.5:n.1238C>T
NM_003907.2:c.798C>T	NP_003898.2:p.Tyr266=
XM_011513265.1:c.48C>T	XP_011511567.1:p.Tyr16=
XR_924208.1:n.1749C>T
NM_003907.3:c.798C>T MANE Select	NP_003898.2:p.Tyr266=
XM_011513266.3:c.-104C>T	XP_011511568.1:n.-104C>T
XR_001740352.2:n.1161C>T
XR_001740353.2:n.1161C>T
XR_924208.2:n.1161C>T