Canonical Allele Identifier: CA2726423

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1402435
• ClinVar RCV Id: RCV001906437
• dbSNP Id: rs536707551
• ExAC: 3:183855760 C / T
• gnomAD v2: 3-183855760-C-T
• gnomAD v3: 3-184137972-C-T
• gnomAD v4: 3-184137972-C-T
• MyVariant Identifiers: chr3:g.183855760C>T (hg19) ; chr3:g.184137972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137972C>T , CM000665.2:g.184137972C>T	GRCh38
NC_000003.11:g.183855760C>T , CM000665.1:g.183855760C>T	GRCh37
NC_000003.10:g.185338454C>T	NCBI36
NG_015826.1:g.7951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.604C>T
ENST00000468748.7:n.564C>T
ENST00000484154.2:n.1202C>T
ENST00000491008.6:n.1329C>T
ENST00000492226.2:n.578C>T
ENST00000492773.6:c.313C>T
ENST00000647636.1:c.581C>T	ENSP00000497505.1:p.Thr194Ile
ENST00000647909.1:c.605C>T	ENSP00000498164.1:p.Thr202Ile
ENST00000648145.1:c.349C>T
ENST00000648189.1:c.331C>T
ENST00000648256.1:c.530C>T	ENSP00000497356.1:p.Thr177Ile
ENST00000648314.1:c.581C>T	ENSP00000496920.1:p.Thr194Ile
ENST00000648599.1:c.581C>T	ENSP00000497159.1:p.Thr194Ile
ENST00000648630.1:c.575C>T	ENSP00000497887.1:p.Thr192Ile
ENST00000648682.1:c.581C>T	ENSP00000498185.1:p.Thr194Ile
ENST00000648882.1:c.*407C>T	ENSP00000497603.1:n.*407C>T
ENST00000648890.1:c.581C>T	ENSP00000497503.1:p.Thr194Ile
ENST00000648915.2:c.581C>T MANE Select	ENSP00000497160.1:p.Thr194Ile
ENST00000649545.1:c.315C>T
ENST00000649688.1:c.581C>T	ENSP00000497097.1:p.Thr194Ile
ENST00000649814.1:n.630C>T
ENST00000650270.1:c.448C>T
ENST00000273783.7:c.581C>T	ENSP00000273783.3:p.Thr194Ile
ENST00000432982.5:c.245+1297C>T
ENST00000444495.1:c.581C>T	ENSP00000409142.1:p.Thr194Ile
ENST00000468748.5:n.34C>T
ENST00000481054.5:n.582C>T
ENST00000491008.5:n.545C>T
ENST00000491144.5:n.1021C>T
ENST00000498831.1:n.536C>T
NM_003907.2:c.581C>T	NP_003898.2:p.Thr194Ile
XR_924208.1:n.1532C>T
NM_003907.3:c.581C>T MANE Select	NP_003898.2:p.Thr194Ile
XM_011513266.3:c.-321C>T	XP_011511568.1:n.-321C>T
XR_001740352.2:n.944C>T
XR_001740353.2:n.944C>T
XR_924208.2:n.944C>T