Canonical Allele Identifier: CA88842878

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1451793
• ClinVar RCV Id: RCV001993342
• dbSNP Id: rs776227815
• gnomAD v3: 3-184140520-C-T
• gnomAD v4: 3-184140520-C-T
• COSMIC: COSM729592
• MyVariant Identifiers: chr3:g.183858308C>T (hg19) ; chr3:g.184140520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140520C>T , CM000665.2:g.184140520C>T	GRCh38
NC_000003.11:g.183858308C>T , CM000665.1:g.183858308C>T	GRCh37
NC_000003.10:g.185341002C>T	NCBI36
NG_015826.1:g.10499C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.969C>T
ENST00000468748.7:n.1189C>T
ENST00000484154.2:n.1387-1405C>T
ENST00000491008.6:n.1694C>T
ENST00000492226.2:n.1203C>T
ENST00000492773.6:c.700C>T
ENST00000647636.1:c.946C>T	ENSP00000497505.1:p.Arg316Ter
ENST00000647909.1:c.970C>T	ENSP00000498164.1:p.Arg324Ter
ENST00000648145.1:c.714C>T
ENST00000648189.1:c.760C>T
ENST00000648256.1:c.918C>T	ENSP00000497356.1:n.918C>T
ENST00000648314.1:c.*65C>T	ENSP00000496920.1:n.*65C>T
ENST00000648599.1:c.*229C>T	ENSP00000497159.1:n.*229C>T
ENST00000648630.1:c.940C>T	ENSP00000497887.1:p.Arg314Ter
ENST00000648682.1:c.946C>T	ENSP00000498185.1:p.Arg316Ter
ENST00000648882.1:c.*772C>T	ENSP00000497603.1:n.*772C>T
ENST00000648890.1:c.946C>T	ENSP00000497503.1:p.Arg316Ter
ENST00000648915.2:c.946C>T MANE Select	ENSP00000497160.1:p.Arg316Ter
ENST00000649545.1:c.577+363C>T
ENST00000649688.1:c.*229C>T	ENSP00000497097.1:n.*229C>T
ENST00000649814.1:n.995C>T
ENST00000650270.1:c.813C>T
ENST00000273783.7:c.946C>T	ENSP00000273783.3:p.Arg316Ter
ENST00000432982.5:c.246-1717C>T
ENST00000444495.1:c.946C>T	ENSP00000409142.1:p.Arg316Ter
ENST00000468748.5:n.659C>T
ENST00000479833.1:n.262C>T
ENST00000481054.5:n.1040C>T
ENST00000491144.5:n.1450C>T
ENST00000493740.1:n.176C>T
NM_003907.2:c.946C>T	NP_003898.2:p.Arg316Ter
XM_011513265.1:c.196C>T	XP_011511567.1:p.Arg66Ter
XM_011513266.1:c.109C>T	XP_011511568.1:p.Arg37Ter
XR_924208.1:n.1897C>T
NM_003907.3:c.946C>T MANE Select	NP_003898.2:p.Arg316Ter
XM_011513266.3:c.109C>T	XP_011511568.1:p.Arg37Ter
XR_001740352.2:n.1309C>T
XR_001740353.2:n.1309C>T
XR_924208.2:n.1309C>T