Canonical Allele Identifier: CA437323740

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2744768
• ClinVar RCV Id: RCV003565782
• gnomAD v4: 3-184142285-T-C
• MyVariant Identifiers: chr3:g.183860073T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142285T>C , CM000665.2:g.184142285T>C	GRCh38
NC_000003.11:g.183860073T>C , CM000665.1:g.183860073T>C	GRCh37
NC_000003.10:g.185342767T>C	NCBI36
NG_015826.1:g.12264T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1374T>C
ENST00000468748.7:n.1594T>C
ENST00000484154.2:n.1581T>C
ENST00000491008.6:n.2099T>C
ENST00000492226.2:n.1618T>C
ENST00000492773.6:c.1105T>C
ENST00000647636.1:c.*200T>C	ENSP00000497505.1:n.*200T>C
ENST00000647909.1:c.1375T>C	ENSP00000498164.1:p.Leu459=
ENST00000648145.1:c.1123T>C
ENST00000648189.1:c.1169T>C
ENST00000648256.1:c.1323T>C	ENSP00000497356.1:n.1323T>C
ENST00000648314.1:c.*470T>C	ENSP00000496920.1:n.*470T>C
ENST00000648599.1:c.*634T>C	ENSP00000497159.1:n.*634T>C
ENST00000648630.1:c.1230T>C	ENSP00000497887.1:n.1230T>C
ENST00000648682.1:c.*191T>C	ENSP00000498185.1:n.*191T>C
ENST00000648882.1:c.*1177T>C	ENSP00000497603.1:n.*1177T>C
ENST00000648890.1:c.1351T>C	ENSP00000497503.1:p.Leu451=
ENST00000648915.2:c.1351T>C MANE Select	ENSP00000497160.1:p.Leu451=
ENST00000649545.1:c.724-13T>C
ENST00000649688.1:c.*644T>C	ENSP00000497097.1:n.*644T>C
ENST00000649814.1:n.1400T>C
ENST00000650270.1:c.1218T>C
ENST00000273783.7:c.1351T>C	ENSP00000273783.3:p.Leu451=
ENST00000432982.5:c.294T>C
ENST00000444495.1:c.1351T>C	ENSP00000409142.1:p.Leu451=
ENST00000479250.1:n.178T>C
ENST00000481054.5:n.1445T>C
ENST00000491144.5:n.1855T>C
ENST00000492773.5:n.234T>C
NM_003907.2:c.1351T>C	NP_003898.2:p.Leu451=
XM_011513265.1:c.601T>C	XP_011511567.1:p.Leu201=
XM_011513266.1:c.514T>C	XP_011511568.1:p.Leu172=
XR_924208.1:n.2302T>C
NM_003907.3:c.1351T>C MANE Select	NP_003898.2:p.Leu451=
XM_011513266.3:c.514T>C	XP_011511568.1:p.Leu172=
XR_001740352.2:n.1714T>C
XR_001740353.2:n.1714T>C
XR_924208.2:n.1714T>C