Canonical Allele Identifier: CA2726346

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2965267
• ClinVar RCV Id: RCV003823433
• dbSNP Id: rs774344255
• ExAC: 3:183854451 C / T
• gnomAD v2: 3-183854451-C-T
• gnomAD v3: 3-184136663-C-T
• gnomAD v4: 3-184136663-C-T
• MyVariant Identifiers: chr3:g.183854451C>T (hg19) ; chr3:g.184136663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136663C>T , CM000665.2:g.184136663C>T	GRCh38
NC_000003.11:g.183854451C>T , CM000665.1:g.183854451C>T	GRCh37
NC_000003.10:g.185337145C>T	NCBI36
NG_015826.1:g.6642C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.247C>T	ENSP00000414775.1:p.Leu83=
ENST00000465218.3:n.270C>T
ENST00000468748.7:n.230C>T
ENST00000471832.2:c.*241C>T	ENSP00000497786.1:n.*241C>T
ENST00000491008.6:n.112C>T
ENST00000492226.2:n.244C>T
ENST00000647636.1:c.247C>T	ENSP00000497505.1:p.Leu83=
ENST00000647909.1:c.247C>T	ENSP00000498164.1:p.Leu83=
ENST00000648145.1:c.15C>T
ENST00000648256.1:c.196C>T	ENSP00000497356.1:p.Leu66=
ENST00000648314.1:c.247C>T	ENSP00000496920.1:p.Leu83=
ENST00000648599.1:c.247C>T	ENSP00000497159.1:p.Leu83=
ENST00000648630.1:c.241C>T	ENSP00000497887.1:p.Leu81=
ENST00000648682.1:c.247C>T	ENSP00000498185.1:p.Leu83=
ENST00000648882.1:c.*73C>T	ENSP00000497603.1:n.*73C>T
ENST00000648890.1:c.247C>T	ENSP00000497503.1:p.Leu83=
ENST00000648915.2:c.247C>T MANE Select	ENSP00000497160.1:p.Leu83=
ENST00000649688.1:c.247C>T	ENSP00000497097.1:p.Leu83=
ENST00000649814.1:n.296C>T
ENST00000650244.1:c.392C>T	ENSP00000497227.1:n.392C>T
ENST00000650270.1:c.114C>T
ENST00000273783.7:c.247C>T	ENSP00000273783.3:p.Leu83=
ENST00000432569.1:c.247C>T	ENSP00000414775.1:p.Leu83=
ENST00000432982.5:c.233C>T
ENST00000444495.1:c.247C>T	ENSP00000409142.1:p.Leu83=
ENST00000471832.1:n.178C>T
ENST00000481054.5:n.248C>T
ENST00000491144.5:n.595C>T
ENST00000498831.1:n.103C>T
NM_003907.2:c.247C>T	NP_003898.2:p.Leu83=
XR_924208.1:n.1198C>T
NM_003907.3:c.247C>T MANE Select	NP_003898.2:p.Leu83=
XM_011513266.3:c.-655C>T	XP_011511568.1:n.-655C>T
XR_001740352.2:n.610C>T
XR_001740353.2:n.610C>T
XR_924208.2:n.610C>T