Canonical Allele Identifier: CA88840520

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2863956
• ClinVar RCV Id: RCV003702532
• dbSNP Id: rs1037798824
• gnomAD v4: 3-184138214-C-T
• MyVariant Identifiers: chr3:g.183856002C>T (hg19) ; chr3:g.184138214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138214C>T , CM000665.2:g.184138214C>T	GRCh38
NC_000003.11:g.183856002C>T , CM000665.1:g.183856002C>T	GRCh37
NC_000003.10:g.185338696C>T	NCBI36
NG_015826.1:g.8193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.756C>T
ENST00000468748.7:n.716C>T
ENST00000484154.2:n.1354C>T
ENST00000491008.6:n.1481C>T
ENST00000492226.2:n.730C>T
ENST00000492773.6:c.487C>T
ENST00000647636.1:c.733C>T	ENSP00000497505.1:p.Leu245=
ENST00000647909.1:c.757C>T	ENSP00000498164.1:p.Leu253=
ENST00000648145.1:c.501C>T
ENST00000648189.1:c.483C>T
ENST00000648256.1:c.682C>T	ENSP00000497356.1:p.Leu228=
ENST00000648314.1:c.733C>T	ENSP00000496920.1:p.Leu245=
ENST00000648599.1:c.733C>T	ENSP00000497159.1:p.Leu245=
ENST00000648630.1:c.727C>T	ENSP00000497887.1:p.Leu243=
ENST00000648682.1:c.733C>T	ENSP00000498185.1:p.Leu245=
ENST00000648882.1:c.*559C>T	ENSP00000497603.1:n.*559C>T
ENST00000648890.1:c.733C>T	ENSP00000497503.1:p.Leu245=
ENST00000648915.2:c.733C>T MANE Select	ENSP00000497160.1:p.Leu245=
ENST00000649545.1:c.467C>T
ENST00000649688.1:c.733C>T	ENSP00000497097.1:p.Leu245=
ENST00000649814.1:n.782C>T
ENST00000650270.1:c.600C>T
ENST00000273783.7:c.733C>T	ENSP00000273783.3:p.Leu245=
ENST00000432982.5:c.245+1539C>T
ENST00000444495.1:c.733C>T	ENSP00000409142.1:p.Leu245=
ENST00000468748.5:n.186C>T
ENST00000479833.1:n.49C>T
ENST00000481054.5:n.734C>T
ENST00000491008.5:n.697C>T
ENST00000491144.5:n.1173C>T
NM_003907.2:c.733C>T	NP_003898.2:p.Leu245=
XR_924208.1:n.1684C>T
NM_003907.3:c.733C>T MANE Select	NP_003898.2:p.Leu245=
XM_011513266.3:c.-169C>T	XP_011511568.1:n.-169C>T
XR_001740352.2:n.1096C>T
XR_001740353.2:n.1096C>T
XR_924208.2:n.1096C>T