Canonical Allele Identifier: CA355385890

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858396G>T (hg19) ; chr3:g.184140608G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140608G>T , CM000665.2:g.184140608G>T	GRCh38
NC_000003.11:g.183858396G>T , CM000665.1:g.183858396G>T	GRCh37
NC_000003.10:g.185341090G>T	NCBI36
NG_015826.1:g.10587G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1057G>T
ENST00000468748.7:n.1277G>T
ENST00000484154.2:n.1387-1317G>T
ENST00000491008.6:n.1782G>T
ENST00000492226.2:n.1291G>T
ENST00000492773.6:c.788G>T
ENST00000647636.1:c.1034G>T	ENSP00000497505.1:p.Gly345Val
ENST00000647909.1:c.1058G>T	ENSP00000498164.1:p.Gly353Val
ENST00000648145.1:c.802G>T
ENST00000648189.1:c.848G>T
ENST00000648256.1:c.1006G>T	ENSP00000497356.1:n.1006G>T
ENST00000648314.1:c.*153G>T	ENSP00000496920.1:n.*153G>T
ENST00000648599.1:c.*317G>T	ENSP00000497159.1:n.*317G>T
ENST00000648630.1:c.1028G>T	ENSP00000497887.1:p.Gly343Val
ENST00000648682.1:c.1034G>T	ENSP00000498185.1:p.Gly345Val
ENST00000648882.1:c.*860G>T	ENSP00000497603.1:n.*860G>T
ENST00000648890.1:c.1034G>T	ENSP00000497503.1:p.Gly345Val
ENST00000648915.2:c.1034G>T MANE Select	ENSP00000497160.1:p.Gly345Val
ENST00000649545.1:c.577+451G>T
ENST00000649688.1:c.*317G>T	ENSP00000497097.1:n.*317G>T
ENST00000649814.1:n.1083G>T
ENST00000650270.1:c.901G>T
ENST00000273783.7:c.1034G>T	ENSP00000273783.3:p.Gly345Val
ENST00000432982.5:c.246-1629G>T
ENST00000444495.1:c.1034G>T	ENSP00000409142.1:p.Gly345Val
ENST00000479833.1:n.350G>T
ENST00000481054.5:n.1128G>T
ENST00000491144.5:n.1538G>T
ENST00000493740.1:n.264G>T
NM_003907.2:c.1034G>T	NP_003898.2:p.Gly345Val
XM_011513265.1:c.284G>T	XP_011511567.1:p.Gly95Val
XM_011513266.1:c.197G>T	XP_011511568.1:p.Gly66Val
XR_924208.1:n.1985G>T
NM_003907.3:c.1034G>T MANE Select	NP_003898.2:p.Gly345Val
XM_011513266.3:c.197G>T	XP_011511568.1:p.Gly66Val
XR_001740352.2:n.1397G>T
XR_001740353.2:n.1397G>T
XR_924208.2:n.1397G>T