Canonical Allele Identifier: CA355384896

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140470G>T , CM000665.2:g.184140470G>T	GRCh38
NC_000003.11:g.183858258G>T , CM000665.1:g.183858258G>T	GRCh37
NC_000003.10:g.185340952G>T	NCBI36
NG_015826.1:g.10449G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.919G>T
ENST00000468748.7:n.1139G>T
ENST00000484154.2:n.1387-1455G>T
ENST00000491008.6:n.1644G>T
ENST00000492226.2:n.1153G>T
ENST00000492773.6:c.650G>T
ENST00000647636.1:c.896G>T	ENSP00000497505.1:p.Arg299Leu
ENST00000647909.1:c.920G>T	ENSP00000498164.1:p.Arg307Leu
ENST00000648145.1:c.664G>T
ENST00000648189.1:c.710G>T
ENST00000648256.1:c.868G>T	ENSP00000497356.1:n.868G>T
ENST00000648314.1:c.*15G>T	ENSP00000496920.1:n.*15G>T
ENST00000648599.1:c.*179G>T	ENSP00000497159.1:n.*179G>T
ENST00000648630.1:c.890G>T	ENSP00000497887.1:p.Arg297Leu
ENST00000648682.1:c.896G>T	ENSP00000498185.1:p.Arg299Leu
ENST00000648882.1:c.*722G>T	ENSP00000497603.1:n.*722G>T
ENST00000648890.1:c.896G>T	ENSP00000497503.1:p.Arg299Leu
ENST00000648915.2:c.896G>T MANE Select	ENSP00000497160.1:p.Arg299Leu
ENST00000649545.1:c.577+313G>T
ENST00000649688.1:c.*179G>T	ENSP00000497097.1:n.*179G>T
ENST00000649814.1:n.945G>T
ENST00000650270.1:c.763G>T
ENST00000273783.7:c.896G>T	ENSP00000273783.3:p.Arg299Leu
ENST00000432982.5:c.246-1767G>T
ENST00000444495.1:c.896G>T	ENSP00000409142.1:p.Arg299Leu
ENST00000468748.5:n.609G>T
ENST00000479833.1:n.212G>T
ENST00000481054.5:n.990G>T
ENST00000491144.5:n.1400G>T
ENST00000493740.1:n.126G>T
NM_003907.2:c.896G>T	NP_003898.2:p.Arg299Leu
XM_011513265.1:c.146G>T	XP_011511567.1:p.Arg49Leu
XM_011513266.1:c.59G>T	XP_011511568.1:p.Arg20Leu
XR_924208.1:n.1847G>T
NM_003907.3:c.896G>T MANE Select	NP_003898.2:p.Arg299Leu
XM_011513266.3:c.59G>T	XP_011511568.1:p.Arg20Leu
XR_001740352.2:n.1259G>T
XR_001740353.2:n.1259G>T
XR_924208.2:n.1259G>T