Canonical Allele Identifier: CA355385679

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858366G>T (hg19) ; chr3:g.184140578G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140578G>T , CM000665.2:g.184140578G>T	GRCh38
NC_000003.11:g.183858366G>T , CM000665.1:g.183858366G>T	GRCh37
NC_000003.10:g.185341060G>T	NCBI36
NG_015826.1:g.10557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1027G>T
ENST00000468748.7:n.1247G>T
ENST00000484154.2:n.1387-1347G>T
ENST00000491008.6:n.1752G>T
ENST00000492226.2:n.1261G>T
ENST00000492773.6:c.758G>T
ENST00000647636.1:c.1004G>T	ENSP00000497505.1:p.Cys335Phe
ENST00000647909.1:c.1028G>T	ENSP00000498164.1:p.Cys343Phe
ENST00000648145.1:c.772G>T
ENST00000648189.1:c.818G>T
ENST00000648256.1:c.976G>T	ENSP00000497356.1:n.976G>T
ENST00000648314.1:c.*123G>T	ENSP00000496920.1:n.*123G>T
ENST00000648599.1:c.*287G>T	ENSP00000497159.1:n.*287G>T
ENST00000648630.1:c.998G>T	ENSP00000497887.1:p.Cys333Phe
ENST00000648682.1:c.1004G>T	ENSP00000498185.1:p.Cys335Phe
ENST00000648882.1:c.*830G>T	ENSP00000497603.1:n.*830G>T
ENST00000648890.1:c.1004G>T	ENSP00000497503.1:p.Cys335Phe
ENST00000648915.2:c.1004G>T MANE Select	ENSP00000497160.1:p.Cys335Phe
ENST00000649545.1:c.577+421G>T
ENST00000649688.1:c.*287G>T	ENSP00000497097.1:n.*287G>T
ENST00000649814.1:n.1053G>T
ENST00000650270.1:c.871G>T
ENST00000273783.7:c.1004G>T	ENSP00000273783.3:p.Cys335Phe
ENST00000432982.5:c.246-1659G>T
ENST00000444495.1:c.1004G>T	ENSP00000409142.1:p.Cys335Phe
ENST00000479833.1:n.320G>T
ENST00000481054.5:n.1098G>T
ENST00000491144.5:n.1508G>T
ENST00000493740.1:n.234G>T
NM_003907.2:c.1004G>T	NP_003898.2:p.Cys335Phe
XM_011513265.1:c.254G>T	XP_011511567.1:p.Cys85Phe
XM_011513266.1:c.167G>T	XP_011511568.1:p.Cys56Phe
XR_924208.1:n.1955G>T
NM_003907.3:c.1004G>T MANE Select	NP_003898.2:p.Cys335Phe
XM_011513266.3:c.167G>T	XP_011511568.1:p.Cys56Phe
XR_001740352.2:n.1367G>T
XR_001740353.2:n.1367G>T
XR_924208.2:n.1367G>T