Canonical Allele Identifier: CA437323776

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140453-T-G
• MyVariant Identifiers: chr3:g.183858241T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140453T>G , CM000665.2:g.184140453T>G	GRCh38
NC_000003.11:g.183858241T>G , CM000665.1:g.183858241T>G	GRCh37
NC_000003.10:g.185340935T>G	NCBI36
NG_015826.1:g.10432T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.902T>G
ENST00000468748.7:n.1122T>G
ENST00000484154.2:n.1387-1472T>G
ENST00000491008.6:n.1627T>G
ENST00000492226.2:n.1136T>G
ENST00000492773.6:c.633T>G
ENST00000647636.1:c.879T>G	ENSP00000497505.1:p.Ala293=
ENST00000647909.1:c.903T>G	ENSP00000498164.1:p.Ala301=
ENST00000648145.1:c.647T>G
ENST00000648189.1:c.693T>G
ENST00000648256.1:c.851T>G	ENSP00000497356.1:n.851T>G
ENST00000648314.1:c.943T>G	ENSP00000496920.1:p.Ter315Glu
ENST00000648599.1:c.*162T>G	ENSP00000497159.1:n.*162T>G
ENST00000648630.1:c.873T>G	ENSP00000497887.1:p.Ala291=
ENST00000648682.1:c.879T>G	ENSP00000498185.1:p.Ala293=
ENST00000648882.1:c.*705T>G	ENSP00000497603.1:n.*705T>G
ENST00000648890.1:c.879T>G	ENSP00000497503.1:p.Ala293=
ENST00000648915.2:c.879T>G MANE Select	ENSP00000497160.1:p.Ala293=
ENST00000649545.1:c.577+296T>G
ENST00000649688.1:c.*162T>G	ENSP00000497097.1:n.*162T>G
ENST00000649814.1:n.928T>G
ENST00000650270.1:c.746T>G
ENST00000273783.7:c.879T>G	ENSP00000273783.3:p.Ala293=
ENST00000432982.5:c.246-1784T>G
ENST00000444495.1:c.879T>G	ENSP00000409142.1:p.Ala293=
ENST00000468748.5:n.592T>G
ENST00000479833.1:n.195T>G
ENST00000481054.5:n.973T>G
ENST00000491144.5:n.1383T>G
ENST00000493740.1:n.109T>G
NM_003907.2:c.879T>G	NP_003898.2:p.Ala293=
XM_011513265.1:c.129T>G	XP_011511567.1:p.Ala43=
XM_011513266.1:c.42T>G	XP_011511568.1:p.Ala14=
XR_924208.1:n.1830T>G
NM_003907.3:c.879T>G MANE Select	NP_003898.2:p.Ala293=
XM_011513266.3:c.42T>G	XP_011511568.1:p.Ala14=
XR_001740352.2:n.1242T>G
XR_001740353.2:n.1242T>G
XR_924208.2:n.1242T>G