Canonical Allele Identifier: CA355382286

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855763G>C (hg19) ; chr3:g.184137975G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137975G>C , CM000665.2:g.184137975G>C	GRCh38
NC_000003.11:g.183855763G>C , CM000665.1:g.183855763G>C	GRCh37
NC_000003.10:g.185338457G>C	NCBI36
NG_015826.1:g.7954G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.607G>C
ENST00000468748.7:n.567G>C
ENST00000484154.2:n.1205G>C
ENST00000491008.6:n.1332G>C
ENST00000492226.2:n.581G>C
ENST00000492773.6:c.316G>C
ENST00000647636.1:c.584G>C	ENSP00000497505.1:p.Arg195Pro
ENST00000647909.1:c.608G>C	ENSP00000498164.1:p.Arg203Pro
ENST00000648145.1:c.352G>C
ENST00000648189.1:c.334G>C
ENST00000648256.1:c.533G>C	ENSP00000497356.1:p.Arg178Pro
ENST00000648314.1:c.584G>C	ENSP00000496920.1:p.Arg195Pro
ENST00000648599.1:c.584G>C	ENSP00000497159.1:p.Arg195Pro
ENST00000648630.1:c.578G>C	ENSP00000497887.1:p.Arg193Pro
ENST00000648682.1:c.584G>C	ENSP00000498185.1:p.Arg195Pro
ENST00000648882.1:c.*410G>C	ENSP00000497603.1:n.*410G>C
ENST00000648890.1:c.584G>C	ENSP00000497503.1:p.Arg195Pro
ENST00000648915.2:c.584G>C MANE Select	ENSP00000497160.1:p.Arg195Pro
ENST00000649545.1:c.318G>C
ENST00000649688.1:c.584G>C	ENSP00000497097.1:p.Arg195Pro
ENST00000649814.1:n.633G>C
ENST00000650270.1:c.451G>C
ENST00000273783.7:c.584G>C	ENSP00000273783.3:p.Arg195Pro
ENST00000432982.5:c.245+1300G>C
ENST00000444495.1:c.584G>C	ENSP00000409142.1:p.Arg195Pro
ENST00000468748.5:n.37G>C
ENST00000481054.5:n.585G>C
ENST00000491008.5:n.548G>C
ENST00000491144.5:n.1024G>C
ENST00000498831.1:n.539G>C
NM_003907.2:c.584G>C	NP_003898.2:p.Arg195Pro
XR_924208.1:n.1535G>C
NM_003907.3:c.584G>C MANE Select	NP_003898.2:p.Arg195Pro
XM_011513266.3:c.-318G>C	XP_011511568.1:n.-318G>C
XR_001740352.2:n.947G>C
XR_001740353.2:n.947G>C
XR_924208.2:n.947G>C