Canonical Allele Identifier: CA88842854

Gene: EIF2B5

Linked Data

• dbSNP Id: rs920044743
• gnomAD v3: 3-184140449-C-T
• gnomAD v4: 3-184140449-C-T
• MyVariant Identifiers: chr3:g.183858237C>T (hg19) ; chr3:g.184140449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140449C>T , CM000665.2:g.184140449C>T	GRCh38
NC_000003.11:g.183858237C>T , CM000665.1:g.183858237C>T	GRCh37
NC_000003.10:g.185340931C>T	NCBI36
NG_015826.1:g.10428C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.898C>T
ENST00000468748.7:n.1118C>T
ENST00000484154.2:n.1387-1476C>T
ENST00000491008.6:n.1623C>T
ENST00000492226.2:n.1132C>T
ENST00000492773.6:c.629C>T
ENST00000647636.1:c.875C>T	ENSP00000497505.1:p.Thr292Ile
ENST00000647909.1:c.899C>T	ENSP00000498164.1:p.Thr300Ile
ENST00000648145.1:c.643C>T
ENST00000648189.1:c.689C>T
ENST00000648256.1:c.847C>T	ENSP00000497356.1:n.847C>T
ENST00000648314.1:c.939C>T	ENSP00000496920.1:p.Asn313=
ENST00000648599.1:c.*158C>T	ENSP00000497159.1:n.*158C>T
ENST00000648630.1:c.869C>T	ENSP00000497887.1:p.Thr290Ile
ENST00000648682.1:c.875C>T	ENSP00000498185.1:p.Thr292Ile
ENST00000648882.1:c.*701C>T	ENSP00000497603.1:n.*701C>T
ENST00000648890.1:c.875C>T	ENSP00000497503.1:p.Thr292Ile
ENST00000648915.2:c.875C>T MANE Select	ENSP00000497160.1:p.Thr292Ile
ENST00000649545.1:c.577+292C>T
ENST00000649688.1:c.*158C>T	ENSP00000497097.1:n.*158C>T
ENST00000649814.1:n.924C>T
ENST00000650270.1:c.742C>T
ENST00000273783.7:c.875C>T	ENSP00000273783.3:p.Thr292Ile
ENST00000432982.5:c.246-1788C>T
ENST00000444495.1:c.875C>T	ENSP00000409142.1:p.Thr292Ile
ENST00000468748.5:n.588C>T
ENST00000479833.1:n.191C>T
ENST00000481054.5:n.969C>T
ENST00000491144.5:n.1379C>T
ENST00000493740.1:n.105C>T
NM_003907.2:c.875C>T	NP_003898.2:p.Thr292Ile
XM_011513265.1:c.125C>T	XP_011511567.1:p.Thr42Ile
XM_011513266.1:c.38C>T	XP_011511568.1:p.Thr13Ile
XR_924208.1:n.1826C>T
NM_003907.3:c.875C>T MANE Select	NP_003898.2:p.Thr292Ile
XM_011513266.3:c.38C>T	XP_011511568.1:p.Thr13Ile
XR_001740352.2:n.1238C>T
XR_001740353.2:n.1238C>T
XR_924208.2:n.1238C>T