Canonical Allele Identifier: CA355384624

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140430-C-G
• MyVariant Identifiers: chr3:g.183858218C>G (hg19) ; chr3:g.184140430C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140430C>G , CM000665.2:g.184140430C>G	GRCh38
NC_000003.11:g.183858218C>G , CM000665.1:g.183858218C>G	GRCh37
NC_000003.10:g.185340912C>G	NCBI36
NG_015826.1:g.10409C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.879C>G
ENST00000468748.7:n.1099C>G
ENST00000484154.2:n.1387-1495C>G
ENST00000491008.6:n.1604C>G
ENST00000492226.2:n.1113C>G
ENST00000492773.6:c.610C>G
ENST00000647636.1:c.856C>G	ENSP00000497505.1:p.Gln286Glu
ENST00000647909.1:c.880C>G	ENSP00000498164.1:p.Gln294Glu
ENST00000648145.1:c.624C>G
ENST00000648189.1:c.670C>G
ENST00000648256.1:c.828C>G	ENSP00000497356.1:n.828C>G
ENST00000648314.1:c.920C>G	ENSP00000496920.1:p.Pro307Arg
ENST00000648599.1:c.*139C>G	ENSP00000497159.1:n.*139C>G
ENST00000648630.1:c.850C>G	ENSP00000497887.1:p.Gln284Glu
ENST00000648682.1:c.856C>G	ENSP00000498185.1:p.Gln286Glu
ENST00000648882.1:c.*682C>G	ENSP00000497603.1:n.*682C>G
ENST00000648890.1:c.856C>G	ENSP00000497503.1:p.Gln286Glu
ENST00000648915.2:c.856C>G MANE Select	ENSP00000497160.1:p.Gln286Glu
ENST00000649545.1:c.577+273C>G
ENST00000649688.1:c.*139C>G	ENSP00000497097.1:n.*139C>G
ENST00000649814.1:n.905C>G
ENST00000650270.1:c.723C>G
ENST00000273783.7:c.856C>G	ENSP00000273783.3:p.Gln286Glu
ENST00000432982.5:c.246-1807C>G
ENST00000444495.1:c.856C>G	ENSP00000409142.1:p.Gln286Glu
ENST00000468748.5:n.569C>G
ENST00000479833.1:n.172C>G
ENST00000481054.5:n.950C>G
ENST00000491144.5:n.1360C>G
ENST00000493740.1:n.86C>G
NM_003907.2:c.856C>G	NP_003898.2:p.Gln286Glu
XM_011513265.1:c.106C>G	XP_011511567.1:p.Gln36Glu
XM_011513266.1:c.19C>G	XP_011511568.1:p.Gln7Glu
XR_924208.1:n.1807C>G
NM_003907.3:c.856C>G MANE Select	NP_003898.2:p.Gln286Glu
XM_011513266.3:c.19C>G	XP_011511568.1:p.Gln7Glu
XR_001740352.2:n.1219C>G
XR_001740353.2:n.1219C>G
XR_924208.2:n.1219C>G