Canonical Allele Identifier: CA355387251

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859821G>C (hg19) ; chr3:g.184142033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142033G>C , CM000665.2:g.184142033G>C	GRCh38
NC_000003.11:g.183859821G>C , CM000665.1:g.183859821G>C	GRCh37
NC_000003.10:g.185342515G>C	NCBI36
NG_015826.1:g.12012G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1288G>C
ENST00000468748.7:n.1508G>C
ENST00000484154.2:n.1495G>C
ENST00000491008.6:n.2013G>C
ENST00000492226.2:n.1532G>C
ENST00000492773.6:c.1019G>C
ENST00000647636.1:c.*114G>C	ENSP00000497505.1:n.*114G>C
ENST00000647909.1:c.1289G>C	ENSP00000498164.1:p.Arg430Pro
ENST00000648145.1:c.1037G>C
ENST00000648189.1:c.1083G>C
ENST00000648256.1:c.1237G>C	ENSP00000497356.1:n.1237G>C
ENST00000648314.1:c.*384G>C	ENSP00000496920.1:n.*384G>C
ENST00000648599.1:c.*548G>C	ENSP00000497159.1:n.*548G>C
ENST00000648630.1:c.1144G>C	ENSP00000497887.1:p.Glu382Gln
ENST00000648682.1:c.*105G>C	ENSP00000498185.1:n.*105G>C
ENST00000648882.1:c.*1091G>C	ENSP00000497603.1:n.*1091G>C
ENST00000648890.1:c.1265G>C	ENSP00000497503.1:p.Arg422Pro
ENST00000648915.2:c.1265G>C MANE Select	ENSP00000497160.1:p.Arg422Pro
ENST00000649545.1:c.686G>C
ENST00000649688.1:c.*558G>C	ENSP00000497097.1:n.*558G>C
ENST00000649814.1:n.1314G>C
ENST00000650270.1:c.1132G>C
ENST00000273783.7:c.1265G>C	ENSP00000273783.3:p.Arg422Pro
ENST00000432982.5:c.246-204G>C
ENST00000444495.1:c.1265G>C	ENSP00000409142.1:p.Arg422Pro
ENST00000479833.1:n.466G>C
ENST00000481054.5:n.1359G>C
ENST00000491144.5:n.1769G>C
ENST00000492773.5:n.148G>C
NM_003907.2:c.1265G>C	NP_003898.2:p.Arg422Pro
XM_011513265.1:c.515G>C	XP_011511567.1:p.Arg172Pro
XM_011513266.1:c.428G>C	XP_011511568.1:p.Arg143Pro
XR_924208.1:n.2216G>C
NM_003907.3:c.1265G>C MANE Select	NP_003898.2:p.Arg422Pro
XM_011513266.3:c.428G>C	XP_011511568.1:p.Arg143Pro
XR_001740352.2:n.1628G>C
XR_001740353.2:n.1628G>C
XR_924208.2:n.1628G>C