Canonical Allele Identifier: CA355389572

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183860070T>C (hg19) ; chr3:g.184142282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142282T>C , CM000665.2:g.184142282T>C	GRCh38
NC_000003.11:g.183860070T>C , CM000665.1:g.183860070T>C	GRCh37
NC_000003.10:g.185342764T>C	NCBI36
NG_015826.1:g.12261T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1371T>C
ENST00000468748.7:n.1591T>C
ENST00000484154.2:n.1578T>C
ENST00000491008.6:n.2096T>C
ENST00000492226.2:n.1615T>C
ENST00000492773.6:c.1102T>C
ENST00000647636.1:c.*197T>C	ENSP00000497505.1:n.*197T>C
ENST00000647909.1:c.1372T>C	ENSP00000498164.1:p.Ser458Pro
ENST00000648145.1:c.1120T>C
ENST00000648189.1:c.1166T>C
ENST00000648256.1:c.1320T>C	ENSP00000497356.1:n.1320T>C
ENST00000648314.1:c.*467T>C	ENSP00000496920.1:n.*467T>C
ENST00000648599.1:c.*631T>C	ENSP00000497159.1:n.*631T>C
ENST00000648630.1:c.1227T>C	ENSP00000497887.1:n.1227T>C
ENST00000648682.1:c.*188T>C	ENSP00000498185.1:n.*188T>C
ENST00000648882.1:c.*1174T>C	ENSP00000497603.1:n.*1174T>C
ENST00000648890.1:c.1348T>C	ENSP00000497503.1:p.Ser450Pro
ENST00000648915.2:c.1348T>C MANE Select	ENSP00000497160.1:p.Ser450Pro
ENST00000649545.1:c.724-16T>C
ENST00000649688.1:c.*641T>C	ENSP00000497097.1:n.*641T>C
ENST00000649814.1:n.1397T>C
ENST00000650270.1:c.1215T>C
ENST00000273783.7:c.1348T>C	ENSP00000273783.3:p.Ser450Pro
ENST00000432982.5:c.291T>C
ENST00000444495.1:c.1348T>C	ENSP00000409142.1:p.Ser450Pro
ENST00000479250.1:n.175T>C
ENST00000481054.5:n.1442T>C
ENST00000491144.5:n.1852T>C
ENST00000492773.5:n.231T>C
NM_003907.2:c.1348T>C	NP_003898.2:p.Ser450Pro
XM_011513265.1:c.598T>C	XP_011511567.1:p.Ser200Pro
XM_011513266.1:c.511T>C	XP_011511568.1:p.Ser171Pro
XR_924208.1:n.2299T>C
NM_003907.3:c.1348T>C MANE Select	NP_003898.2:p.Ser450Pro
XM_011513266.3:c.511T>C	XP_011511568.1:p.Ser171Pro
XR_001740352.2:n.1711T>C
XR_001740353.2:n.1711T>C
XR_924208.2:n.1711T>C