Canonical Allele Identifier: CA437323733

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183860063G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142275G>T , CM000665.2:g.184142275G>T	GRCh38
NC_000003.11:g.183860063G>T , CM000665.1:g.183860063G>T	GRCh37
NC_000003.10:g.185342757G>T	NCBI36
NG_015826.1:g.12254G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1364G>T
ENST00000468748.7:n.1584G>T
ENST00000484154.2:n.1571G>T
ENST00000491008.6:n.2089G>T
ENST00000492226.2:n.1608G>T
ENST00000492773.6:c.1095G>T
ENST00000647636.1:c.*190G>T	ENSP00000497505.1:n.*190G>T
ENST00000647909.1:c.1365G>T	ENSP00000498164.1:p.Ser455=
ENST00000648145.1:c.1113G>T
ENST00000648189.1:c.1159G>T
ENST00000648256.1:c.1313G>T	ENSP00000497356.1:n.1313G>T
ENST00000648314.1:c.*460G>T	ENSP00000496920.1:n.*460G>T
ENST00000648599.1:c.*624G>T	ENSP00000497159.1:n.*624G>T
ENST00000648630.1:c.1220G>T	ENSP00000497887.1:n.1220G>T
ENST00000648682.1:c.*181G>T	ENSP00000498185.1:n.*181G>T
ENST00000648882.1:c.*1167G>T	ENSP00000497603.1:n.*1167G>T
ENST00000648890.1:c.1341G>T	ENSP00000497503.1:p.Ser447=
ENST00000648915.2:c.1341G>T MANE Select	ENSP00000497160.1:p.Ser447=
ENST00000649545.1:c.724-23G>T
ENST00000649688.1:c.*634G>T	ENSP00000497097.1:n.*634G>T
ENST00000649814.1:n.1390G>T
ENST00000650270.1:c.1208G>T
ENST00000273783.7:c.1341G>T	ENSP00000273783.3:p.Ser447=
ENST00000432982.5:c.284G>T
ENST00000444495.1:c.1341G>T	ENSP00000409142.1:p.Ser447=
ENST00000479250.1:n.168G>T
ENST00000481054.5:n.1435G>T
ENST00000491144.5:n.1845G>T
ENST00000492773.5:n.224G>T
NM_003907.2:c.1341G>T	NP_003898.2:p.Ser447=
XM_011513265.1:c.591G>T	XP_011511567.1:p.Ser197=
XM_011513266.1:c.504G>T	XP_011511568.1:p.Ser168=
XR_924208.1:n.2292G>T
NM_003907.3:c.1341G>T MANE Select	NP_003898.2:p.Ser447=
XM_011513266.3:c.504G>T	XP_011511568.1:p.Ser168=
XR_001740352.2:n.1704G>T
XR_001740353.2:n.1704G>T
XR_924208.2:n.1704G>T