Canonical Allele Identifier: CA355382969

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2799561
• ClinVar RCV Id: RCV003668600
• dbSNP Id: rs1215525192
• gnomAD v2: 3-183855990-C-T
• gnomAD v4: 3-184138202-C-T
• MyVariant Identifiers: chr3:g.183855990C>T (hg19) ; chr3:g.184138202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138202C>T , CM000665.2:g.184138202C>T	GRCh38
NC_000003.11:g.183855990C>T , CM000665.1:g.183855990C>T	GRCh37
NC_000003.10:g.185338684C>T	NCBI36
NG_015826.1:g.8181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.744C>T
ENST00000468748.7:n.704C>T
ENST00000484154.2:n.1342C>T
ENST00000491008.6:n.1469C>T
ENST00000492226.2:n.718C>T
ENST00000492773.6:c.475C>T
ENST00000647636.1:c.721C>T	ENSP00000497505.1:p.Arg241Ter
ENST00000647909.1:c.745C>T	ENSP00000498164.1:p.Arg249Ter
ENST00000648145.1:c.489C>T
ENST00000648189.1:c.471C>T
ENST00000648256.1:c.670C>T	ENSP00000497356.1:p.Arg224Ter
ENST00000648314.1:c.721C>T	ENSP00000496920.1:p.Arg241Ter
ENST00000648599.1:c.721C>T	ENSP00000497159.1:p.Arg241Ter
ENST00000648630.1:c.715C>T	ENSP00000497887.1:p.Arg239Ter
ENST00000648682.1:c.721C>T	ENSP00000498185.1:p.Arg241Ter
ENST00000648882.1:c.*547C>T	ENSP00000497603.1:n.*547C>T
ENST00000648890.1:c.721C>T	ENSP00000497503.1:p.Arg241Ter
ENST00000648915.2:c.721C>T MANE Select	ENSP00000497160.1:p.Arg241Ter
ENST00000649545.1:c.455C>T
ENST00000649688.1:c.721C>T	ENSP00000497097.1:p.Arg241Ter
ENST00000649814.1:n.770C>T
ENST00000650270.1:c.588C>T
ENST00000273783.7:c.721C>T	ENSP00000273783.3:p.Arg241Ter
ENST00000432982.5:c.245+1527C>T
ENST00000444495.1:c.721C>T	ENSP00000409142.1:p.Arg241Ter
ENST00000468748.5:n.174C>T
ENST00000479833.1:n.37C>T
ENST00000481054.5:n.722C>T
ENST00000491008.5:n.685C>T
ENST00000491144.5:n.1161C>T
NM_003907.2:c.721C>T	NP_003898.2:p.Arg241Ter
XR_924208.1:n.1672C>T
NM_003907.3:c.721C>T MANE Select	NP_003898.2:p.Arg241Ter
XM_011513266.3:c.-181C>T	XP_011511568.1:n.-181C>T
XR_001740352.2:n.1084C>T
XR_001740353.2:n.1084C>T
XR_924208.2:n.1084C>T