Canonical Allele Identifier: CA2726854

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 779329
• ClinVar RCV Id: RCV000960138 ; RCV001150411 ; RCV003905813
• dbSNP Id: rs149264256
• ExAC: 3:183861973 C / T
• gnomAD v2: 3-183861973-C-T
• gnomAD v3: 3-184144185-C-T
• gnomAD v4: 3-184144185-C-T
• MyVariant Identifiers: chr3:g.183861973C>T (hg19) ; chr3:g.184144185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144185C>T , CM000665.2:g.184144185C>T	GRCh38
NC_000003.11:g.183861973C>T , CM000665.1:g.183861973C>T	GRCh37
NC_000003.10:g.185344667C>T	NCBI36
NG_015826.1:g.14164C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.2278C>T
ENST00000468748.7:n.3031C>T
ENST00000484154.2:n.3018C>T
ENST00000491008.6:n.2720C>T
ENST00000492226.2:n.3055C>T
ENST00000492773.6:c.1710C>T
ENST00000647636.1:c.*805C>T	ENSP00000497505.1:n.*805C>T
ENST00000647909.1:c.1980C>T	ENSP00000498164.1:p.Phe660=
ENST00000648145.1:c.1748C>T
ENST00000648189.1:c.1790C>T
ENST00000648256.1:c.1928C>T	ENSP00000497356.1:n.1928C>T
ENST00000648314.1:c.*1345C>T	ENSP00000496920.1:n.*1345C>T
ENST00000648599.1:c.*1239C>T	ENSP00000497159.1:n.*1239C>T
ENST00000648630.1:c.2134C>T	ENSP00000497887.1:n.2134C>T
ENST00000648682.1:c.*1095C>T	ENSP00000498185.1:n.*1095C>T
ENST00000648882.1:c.*1782C>T	ENSP00000497603.1:n.*1782C>T
ENST00000648890.1:c.*379C>T	ENSP00000497503.1:n.*379C>T
ENST00000648915.2:c.1956C>T MANE Select	ENSP00000497160.1:p.Phe652=
ENST00000649545.1:c.1615C>T
ENST00000649688.1:c.*1548C>T	ENSP00000497097.1:n.*1548C>T
ENST00000649814.1:n.2554C>T
ENST00000650270.1:c.1834C>T
ENST00000273783.7:c.1956C>T	ENSP00000273783.3:p.Phe652=
ENST00000444495.1:c.1956C>T	ENSP00000409142.1:p.Phe652=
ENST00000465218.2:n.738C>T
ENST00000481054.5:n.2882C>T
ENST00000491144.5:n.2460C>T
ENST00000492226.1:n.132C>T
NM_003907.2:c.1956C>T	NP_003898.2:p.Phe652=
XM_011513265.1:c.1206C>T	XP_011511567.1:p.Phe402=
XM_011513266.1:c.1119C>T	XP_011511568.1:p.Phe373=
XR_924208.1:n.2923C>T
NM_003907.3:c.1956C>T MANE Select	NP_003898.2:p.Phe652=
XM_011513266.3:c.1119C>T	XP_011511568.1:p.Phe373=
XR_001740352.2:n.2330C>T
XR_001740353.2:n.2346C>T
XR_924208.2:n.2335C>T