Canonical Allele Identifier: CA437323737

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183860069C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142281C>T , CM000665.2:g.184142281C>T	GRCh38
NC_000003.11:g.183860069C>T , CM000665.1:g.183860069C>T	GRCh37
NC_000003.10:g.185342763C>T	NCBI36
NG_015826.1:g.12260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1370C>T
ENST00000468748.7:n.1590C>T
ENST00000484154.2:n.1577C>T
ENST00000491008.6:n.2095C>T
ENST00000492226.2:n.1614C>T
ENST00000492773.6:c.1101C>T
ENST00000647636.1:c.*196C>T	ENSP00000497505.1:n.*196C>T
ENST00000647909.1:c.1371C>T	ENSP00000498164.1:p.Ile457=
ENST00000648145.1:c.1119C>T
ENST00000648189.1:c.1165C>T
ENST00000648256.1:c.1319C>T	ENSP00000497356.1:n.1319C>T
ENST00000648314.1:c.*466C>T	ENSP00000496920.1:n.*466C>T
ENST00000648599.1:c.*630C>T	ENSP00000497159.1:n.*630C>T
ENST00000648630.1:c.1226C>T	ENSP00000497887.1:n.1226C>T
ENST00000648682.1:c.*187C>T	ENSP00000498185.1:n.*187C>T
ENST00000648882.1:c.*1173C>T	ENSP00000497603.1:n.*1173C>T
ENST00000648890.1:c.1347C>T	ENSP00000497503.1:p.Ile449=
ENST00000648915.2:c.1347C>T MANE Select	ENSP00000497160.1:p.Ile449=
ENST00000649545.1:c.724-17C>T
ENST00000649688.1:c.*640C>T	ENSP00000497097.1:n.*640C>T
ENST00000649814.1:n.1396C>T
ENST00000650270.1:c.1214C>T
ENST00000273783.7:c.1347C>T	ENSP00000273783.3:p.Ile449=
ENST00000432982.5:c.290C>T
ENST00000444495.1:c.1347C>T	ENSP00000409142.1:p.Ile449=
ENST00000479250.1:n.174C>T
ENST00000481054.5:n.1441C>T
ENST00000491144.5:n.1851C>T
ENST00000492773.5:n.230C>T
NM_003907.2:c.1347C>T	NP_003898.2:p.Ile449=
XM_011513265.1:c.597C>T	XP_011511567.1:p.Ile199=
XM_011513266.1:c.510C>T	XP_011511568.1:p.Ile170=
XR_924208.1:n.2298C>T
NM_003907.3:c.1347C>T MANE Select	NP_003898.2:p.Ile449=
XM_011513266.3:c.510C>T	XP_011511568.1:p.Ile170=
XR_001740352.2:n.1710C>T
XR_001740353.2:n.1710C>T
XR_924208.2:n.1710C>T