Canonical Allele Identifier: CA355386697

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859737C>A (hg19) ; chr3:g.184141949C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141949C>A , CM000665.2:g.184141949C>A	GRCh38
NC_000003.11:g.183859737C>A , CM000665.1:g.183859737C>A	GRCh37
NC_000003.10:g.185342431C>A	NCBI36
NG_015826.1:g.11928C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1204C>A
ENST00000468748.7:n.1424C>A
ENST00000484154.2:n.1411C>A
ENST00000491008.6:n.1929C>A
ENST00000492226.2:n.1448C>A
ENST00000492773.6:c.935C>A
ENST00000647636.1:c.*30C>A	ENSP00000497505.1:n.*30C>A
ENST00000647909.1:c.1205C>A	ENSP00000498164.1:p.Thr402Asn
ENST00000648145.1:c.953C>A
ENST00000648189.1:c.999C>A
ENST00000648256.1:c.1153C>A	ENSP00000497356.1:n.1153C>A
ENST00000648314.1:c.*300C>A	ENSP00000496920.1:n.*300C>A
ENST00000648599.1:c.*464C>A	ENSP00000497159.1:n.*464C>A
ENST00000648630.1:c.1060C>A	ENSP00000497887.1:p.Pro354Thr
ENST00000648682.1:c.*21C>A	ENSP00000498185.1:n.*21C>A
ENST00000648882.1:c.*1007C>A	ENSP00000497603.1:n.*1007C>A
ENST00000648890.1:c.1181C>A	ENSP00000497503.1:p.Thr394Asn
ENST00000648915.2:c.1181C>A MANE Select	ENSP00000497160.1:p.Thr394Asn
ENST00000649545.1:c.602C>A
ENST00000649688.1:c.*474C>A	ENSP00000497097.1:n.*474C>A
ENST00000649814.1:n.1230C>A
ENST00000650270.1:c.1048C>A
ENST00000273783.7:c.1181C>A	ENSP00000273783.3:p.Thr394Asn
ENST00000432982.5:c.246-288C>A
ENST00000444495.1:c.1181C>A	ENSP00000409142.1:p.Thr394Asn
ENST00000479833.1:n.382C>A
ENST00000481054.5:n.1275C>A
ENST00000491144.5:n.1685C>A
ENST00000492773.5:n.64C>A
NM_003907.2:c.1181C>A	NP_003898.2:p.Thr394Asn
XM_011513265.1:c.431C>A	XP_011511567.1:p.Thr144Asn
XM_011513266.1:c.344C>A	XP_011511568.1:p.Thr115Asn
XR_924208.1:n.2132C>A
NM_003907.3:c.1181C>A MANE Select	NP_003898.2:p.Thr394Asn
XM_011513266.3:c.344C>A	XP_011511568.1:p.Thr115Asn
XR_001740352.2:n.1544C>A
XR_001740353.2:n.1544C>A
XR_924208.2:n.1544C>A