Canonical Allele Identifier: CA355386662

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859730G>A (hg19) ; chr3:g.184141942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141942G>A , CM000665.2:g.184141942G>A	GRCh38
NC_000003.11:g.183859730G>A , CM000665.1:g.183859730G>A	GRCh37
NC_000003.10:g.185342424G>A	NCBI36
NG_015826.1:g.11921G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1197G>A
ENST00000468748.7:n.1417G>A
ENST00000484154.2:n.1404G>A
ENST00000491008.6:n.1922G>A
ENST00000492226.2:n.1441G>A
ENST00000492773.6:c.928G>A
ENST00000647636.1:c.*23G>A	ENSP00000497505.1:n.*23G>A
ENST00000647909.1:c.1198G>A	ENSP00000498164.1:p.Asp400Asn
ENST00000648145.1:c.946G>A
ENST00000648189.1:c.992G>A
ENST00000648256.1:c.1146G>A	ENSP00000497356.1:n.1146G>A
ENST00000648314.1:c.*293G>A	ENSP00000496920.1:n.*293G>A
ENST00000648599.1:c.*457G>A	ENSP00000497159.1:n.*457G>A
ENST00000648630.1:c.1053G>A	ENSP00000497887.1:p.Trp351Ter
ENST00000648682.1:c.*14G>A	ENSP00000498185.1:n.*14G>A
ENST00000648882.1:c.*1000G>A	ENSP00000497603.1:n.*1000G>A
ENST00000648890.1:c.1174G>A	ENSP00000497503.1:p.Asp392Asn
ENST00000648915.2:c.1174G>A MANE Select	ENSP00000497160.1:p.Asp392Asn
ENST00000649545.1:c.595G>A
ENST00000649688.1:c.*467G>A	ENSP00000497097.1:n.*467G>A
ENST00000649814.1:n.1223G>A
ENST00000650270.1:c.1041G>A
ENST00000273783.7:c.1174G>A	ENSP00000273783.3:p.Asp392Asn
ENST00000432982.5:c.246-295G>A
ENST00000444495.1:c.1174G>A	ENSP00000409142.1:p.Asp392Asn
ENST00000479833.1:n.375G>A
ENST00000481054.5:n.1268G>A
ENST00000491144.5:n.1678G>A
ENST00000492773.5:n.57G>A
NM_003907.2:c.1174G>A	NP_003898.2:p.Asp392Asn
XM_011513265.1:c.424G>A	XP_011511567.1:p.Asp142Asn
XM_011513266.1:c.337G>A	XP_011511568.1:p.Asp113Asn
XR_924208.1:n.2125G>A
NM_003907.3:c.1174G>A MANE Select	NP_003898.2:p.Asp392Asn
XM_011513266.3:c.337G>A	XP_011511568.1:p.Asp113Asn
XR_001740352.2:n.1537G>A
XR_001740353.2:n.1537G>A
XR_924208.2:n.1537G>A