Canonical Allele Identifier: CA355394517

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183861967G>T (hg19) ; chr3:g.184144179G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144179G>T , CM000665.2:g.184144179G>T	GRCh38
NC_000003.11:g.183861967G>T , CM000665.1:g.183861967G>T	GRCh37
NC_000003.10:g.185344661G>T	NCBI36
NG_015826.1:g.14158G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.2272G>T
ENST00000468748.7:n.3025G>T
ENST00000484154.2:n.3012G>T
ENST00000491008.6:n.2714G>T
ENST00000492226.2:n.3049G>T
ENST00000492773.6:c.1704G>T
ENST00000647636.1:c.*799G>T	ENSP00000497505.1:n.*799G>T
ENST00000647909.1:c.1974G>T	ENSP00000498164.1:p.Glu658Asp
ENST00000648145.1:c.1742G>T
ENST00000648189.1:c.1784G>T
ENST00000648256.1:c.1922G>T	ENSP00000497356.1:n.1922G>T
ENST00000648314.1:c.*1339G>T	ENSP00000496920.1:n.*1339G>T
ENST00000648599.1:c.*1233G>T	ENSP00000497159.1:n.*1233G>T
ENST00000648630.1:c.2128G>T	ENSP00000497887.1:n.2128G>T
ENST00000648682.1:c.*1089G>T	ENSP00000498185.1:n.*1089G>T
ENST00000648882.1:c.*1776G>T	ENSP00000497603.1:n.*1776G>T
ENST00000648890.1:c.*373G>T	ENSP00000497503.1:n.*373G>T
ENST00000648915.2:c.1950G>T MANE Select	ENSP00000497160.1:p.Glu650Asp
ENST00000649545.1:c.1609G>T
ENST00000649688.1:c.*1542G>T	ENSP00000497097.1:n.*1542G>T
ENST00000649814.1:n.2548G>T
ENST00000650270.1:c.1828G>T
ENST00000273783.7:c.1950G>T	ENSP00000273783.3:p.Glu650Asp
ENST00000444495.1:c.1950G>T	ENSP00000409142.1:p.Glu650Asp
ENST00000465218.2:n.732G>T
ENST00000481054.5:n.2876G>T
ENST00000491144.5:n.2454G>T
ENST00000492226.1:n.126G>T
NM_003907.2:c.1950G>T	NP_003898.2:p.Glu650Asp
XM_011513265.1:c.1200G>T	XP_011511567.1:p.Glu400Asp
XM_011513266.1:c.1113G>T	XP_011511568.1:p.Glu371Asp
XR_924208.1:n.2917G>T
NM_003907.3:c.1950G>T MANE Select	NP_003898.2:p.Glu650Asp
XM_011513266.3:c.1113G>T	XP_011511568.1:p.Glu371Asp
XR_001740352.2:n.2324G>T
XR_001740353.2:n.2340G>T
XR_924208.2:n.2329G>T