Canonical Allele Identifier: CA355385955

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858411T>G (hg19) ; chr3:g.184140623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140623T>G , CM000665.2:g.184140623T>G	GRCh38
NC_000003.11:g.183858411T>G , CM000665.1:g.183858411T>G	GRCh37
NC_000003.10:g.185341105T>G	NCBI36
NG_015826.1:g.10602T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1072T>G
ENST00000468748.7:n.1292T>G
ENST00000484154.2:n.1387-1302T>G
ENST00000491008.6:n.1797T>G
ENST00000492226.2:n.1306T>G
ENST00000492773.6:c.803T>G
ENST00000647636.1:c.1049T>G	ENSP00000497505.1:p.Leu350Arg
ENST00000647909.1:c.1073T>G	ENSP00000498164.1:p.Leu358Arg
ENST00000648145.1:c.817T>G
ENST00000648189.1:c.863T>G
ENST00000648256.1:c.1021T>G	ENSP00000497356.1:n.1021T>G
ENST00000648314.1:c.*168T>G	ENSP00000496920.1:n.*168T>G
ENST00000648599.1:c.*332T>G	ENSP00000497159.1:n.*332T>G
ENST00000648630.1:c.1035+8T>G	ENSP00000497887.1:n.1035+8T>G
ENST00000648682.1:c.1049T>G	ENSP00000498185.1:p.Leu350Arg
ENST00000648882.1:c.*875T>G	ENSP00000497603.1:n.*875T>G
ENST00000648890.1:c.1049T>G	ENSP00000497503.1:p.Leu350Arg
ENST00000648915.2:c.1049T>G MANE Select	ENSP00000497160.1:p.Leu350Arg
ENST00000649545.1:c.577+466T>G
ENST00000649688.1:c.*332T>G	ENSP00000497097.1:n.*332T>G
ENST00000649814.1:n.1098T>G
ENST00000650270.1:c.916T>G
ENST00000273783.7:c.1049T>G	ENSP00000273783.3:p.Leu350Arg
ENST00000432982.5:c.246-1614T>G
ENST00000444495.1:c.1049T>G	ENSP00000409142.1:p.Leu350Arg
ENST00000479833.1:n.357+8T>G
ENST00000481054.5:n.1143T>G
ENST00000491144.5:n.1553T>G
ENST00000493740.1:n.279T>G
NM_003907.2:c.1049T>G	NP_003898.2:p.Leu350Arg
XM_011513265.1:c.299T>G	XP_011511567.1:p.Leu100Arg
XM_011513266.1:c.212T>G	XP_011511568.1:p.Leu71Arg
XR_924208.1:n.2000T>G
NM_003907.3:c.1049T>G MANE Select	NP_003898.2:p.Leu350Arg
XM_011513266.3:c.212T>G	XP_011511568.1:p.Leu71Arg
XR_001740352.2:n.1412T>G
XR_001740353.2:n.1412T>G
XR_924208.2:n.1412T>G