Canonical Allele Identifier: CA2726466

Gene: EIF2B5

Linked Data

• dbSNP Id: rs765605940
• ExAC: 3:183855989 T / G
• gnomAD v2: 3-183855989-T-G
• gnomAD v4: 3-184138201-T-G
• MyVariant Identifiers: chr3:g.183855989T>G (hg19) ; chr3:g.184138201T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138201T>G , CM000665.2:g.184138201T>G	GRCh38
NC_000003.11:g.183855989T>G , CM000665.1:g.183855989T>G	GRCh37
NC_000003.10:g.185338683T>G	NCBI36
NG_015826.1:g.8180T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.743T>G
ENST00000468748.7:n.703T>G
ENST00000484154.2:n.1341T>G
ENST00000491008.6:n.1468T>G
ENST00000492226.2:n.717T>G
ENST00000492773.6:c.474T>G
ENST00000647636.1:c.720T>G	ENSP00000497505.1:p.Val240=
ENST00000647909.1:c.744T>G	ENSP00000498164.1:p.Val248=
ENST00000648145.1:c.488T>G
ENST00000648189.1:c.470T>G
ENST00000648256.1:c.669T>G	ENSP00000497356.1:p.Val223=
ENST00000648314.1:c.720T>G	ENSP00000496920.1:p.Val240=
ENST00000648599.1:c.720T>G	ENSP00000497159.1:p.Val240=
ENST00000648630.1:c.714T>G	ENSP00000497887.1:p.Val238=
ENST00000648682.1:c.720T>G	ENSP00000498185.1:p.Val240=
ENST00000648882.1:c.*546T>G	ENSP00000497603.1:n.*546T>G
ENST00000648890.1:c.720T>G	ENSP00000497503.1:p.Val240=
ENST00000648915.2:c.720T>G MANE Select	ENSP00000497160.1:p.Val240=
ENST00000649545.1:c.454T>G
ENST00000649688.1:c.720T>G	ENSP00000497097.1:p.Val240=
ENST00000649814.1:n.769T>G
ENST00000650270.1:c.587T>G
ENST00000273783.7:c.720T>G	ENSP00000273783.3:p.Val240=
ENST00000432982.5:c.245+1526T>G
ENST00000444495.1:c.720T>G	ENSP00000409142.1:p.Val240=
ENST00000468748.5:n.173T>G
ENST00000479833.1:n.36T>G
ENST00000481054.5:n.721T>G
ENST00000491008.5:n.684T>G
ENST00000491144.5:n.1160T>G
NM_003907.2:c.720T>G	NP_003898.2:p.Val240=
XR_924208.1:n.1671T>G
NM_003907.3:c.720T>G MANE Select	NP_003898.2:p.Val240=
XM_011513266.3:c.-182T>G	XP_011511568.1:n.-182T>G
XR_001740352.2:n.1083T>G
XR_001740353.2:n.1083T>G
XR_924208.2:n.1083T>G