Canonical Allele Identifier: CA355382197

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855722G>C (hg19) ; chr3:g.184137934G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137934G>C , CM000665.2:g.184137934G>C	GRCh38
NC_000003.11:g.183855722G>C , CM000665.1:g.183855722G>C	GRCh37
NC_000003.10:g.185338416G>C	NCBI36
NG_015826.1:g.7913G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.566G>C
ENST00000468748.7:n.526G>C
ENST00000484154.2:n.1164G>C
ENST00000491008.6:n.1291G>C
ENST00000492226.2:n.540G>C
ENST00000492773.6:c.275G>C
ENST00000647636.1:c.543G>C	ENSP00000497505.1:p.Met181Ile
ENST00000647909.1:c.567G>C	ENSP00000498164.1:p.Met189Ile
ENST00000648145.1:c.311G>C
ENST00000648189.1:c.293G>C
ENST00000648256.1:c.492G>C	ENSP00000497356.1:p.Met164Ile
ENST00000648314.1:c.543G>C	ENSP00000496920.1:p.Met181Ile
ENST00000648599.1:c.543G>C	ENSP00000497159.1:p.Met181Ile
ENST00000648630.1:c.537G>C	ENSP00000497887.1:p.Met179Ile
ENST00000648682.1:c.543G>C	ENSP00000498185.1:p.Met181Ile
ENST00000648882.1:c.*369G>C	ENSP00000497603.1:n.*369G>C
ENST00000648890.1:c.543G>C	ENSP00000497503.1:p.Met181Ile
ENST00000648915.2:c.543G>C MANE Select	ENSP00000497160.1:p.Met181Ile
ENST00000649545.1:c.277G>C
ENST00000649688.1:c.543G>C	ENSP00000497097.1:p.Met181Ile
ENST00000649814.1:n.592G>C
ENST00000650244.1:c.688G>C	ENSP00000497227.1:n.688G>C
ENST00000650270.1:c.410G>C
ENST00000273783.7:c.543G>C	ENSP00000273783.3:p.Met181Ile
ENST00000432982.5:c.245+1259G>C
ENST00000444495.1:c.543G>C	ENSP00000409142.1:p.Met181Ile
ENST00000481054.5:n.544G>C
ENST00000491008.5:n.507G>C
ENST00000491144.5:n.983G>C
ENST00000498831.1:n.498G>C
NM_003907.2:c.543G>C	NP_003898.2:p.Met181Ile
XR_924208.1:n.1494G>C
NM_003907.3:c.543G>C MANE Select	NP_003898.2:p.Met181Ile
XM_011513266.3:c.-359G>C	XP_011511568.1:n.-359G>C
XR_001740352.2:n.906G>C
XR_001740353.2:n.906G>C
XR_924208.2:n.906G>C