Canonical Allele Identifier: CA437145927

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2889099
• ClinVar RCV Id: RCV003717620
• dbSNP Id: rs1267489901
• gnomAD v3: 3-184135562-C-T
• gnomAD v4: 3-184135562-C-T
• MyVariant Identifiers: chr3:g.183853350C>T (hg19) ; chr3:g.184135562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135562C>T , CM000665.2:g.184135562C>T	GRCh38
NC_000003.11:g.183853350C>T , CM000665.1:g.183853350C>T	GRCh37
NC_000003.10:g.185336044C>T	NCBI36
NG_015826.1:g.5541C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.177C>T	ENSP00000414775.1:p.Ile59=
ENST00000465218.3:n.200C>T
ENST00000468748.7:n.160C>T
ENST00000471832.2:c.177C>T	ENSP00000497786.1:p.Ile59=
ENST00000491008.6:n.42C>T
ENST00000492226.2:n.174C>T
ENST00000647636.1:c.177C>T	ENSP00000497505.1:p.Ile59=
ENST00000647909.1:c.177C>T	ENSP00000498164.1:p.Ile59=
ENST00000648256.1:c.126C>T	ENSP00000497356.1:p.Ile42=
ENST00000648314.1:c.177C>T	ENSP00000496920.1:p.Ile59=
ENST00000648599.1:c.177C>T	ENSP00000497159.1:p.Ile59=
ENST00000648630.1:c.171C>T	ENSP00000497887.1:p.Ile57=
ENST00000648682.1:c.177C>T	ENSP00000498185.1:p.Ile59=
ENST00000648882.1:c.177C>T	ENSP00000497603.1:p.Ile59=
ENST00000648890.1:c.177C>T	ENSP00000497503.1:p.Ile59=
ENST00000648915.2:c.177C>T MANE Select	ENSP00000497160.1:p.Ile59=
ENST00000649688.1:c.177C>T	ENSP00000497097.1:p.Ile59=
ENST00000649814.1:n.226C>T
ENST00000650244.1:c.69C>T	ENSP00000497227.1:p.Ile23=
ENST00000650270.1:c.44C>T
ENST00000273783.7:c.177C>T	ENSP00000273783.3:p.Ile59=
ENST00000432569.1:c.177C>T	ENSP00000414775.1:p.Ile59=
ENST00000432982.5:c.163C>T
ENST00000444495.1:c.177C>T	ENSP00000409142.1:p.Ile59=
ENST00000481054.5:n.178C>T
ENST00000491144.5:n.525C>T
NM_003907.2:c.177C>T	NP_003898.2:p.Ile59=
XR_924208.1:n.1128C>T
NM_003907.3:c.177C>T MANE Select	NP_003898.2:p.Ile59=
XM_011513266.3:c.-725C>T	XP_011511568.1:n.-725C>T
XR_001740352.2:n.540C>T
XR_001740353.2:n.540C>T
XR_924208.2:n.540C>T