Canonical Allele Identifier: CA437144985

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2187860
• ClinVar RCV Id: RCV002623641
• gnomAD v4: 3-184135400-A-G
• MyVariant Identifiers: chr3:g.183853188A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135400A>G , CM000665.2:g.184135400A>G	GRCh38
NC_000003.11:g.183853188A>G , CM000665.1:g.183853188A>G	GRCh37
NC_000003.10:g.185335882A>G	NCBI36
NG_015826.1:g.5379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.15A>G	ENSP00000414775.1:p.Val5=
ENST00000465218.3:n.38A>G
ENST00000471832.2:c.15A>G	ENSP00000497786.1:p.Val5=
ENST00000492226.2:n.12A>G
ENST00000647636.1:c.15A>G	ENSP00000497505.1:p.Val5=
ENST00000647909.1:c.15A>G	ENSP00000498164.1:p.Val5=
ENST00000648314.1:c.15A>G	ENSP00000496920.1:p.Val5=
ENST00000648599.1:c.15A>G	ENSP00000497159.1:p.Val5=
ENST00000648630.1:c.9A>G	ENSP00000497887.1:p.Val3=
ENST00000648682.1:c.15A>G	ENSP00000498185.1:p.Val5=
ENST00000648882.1:c.15A>G	ENSP00000497603.1:p.Val5=
ENST00000648890.1:c.15A>G	ENSP00000497503.1:p.Val5=
ENST00000648915.2:c.15A>G MANE Select	ENSP00000497160.1:p.Val5=
ENST00000649688.1:c.15A>G	ENSP00000497097.1:p.Val5=
ENST00000649814.1:n.64A>G
ENST00000273783.7:c.15A>G	ENSP00000273783.3:p.Val5=
ENST00000432569.1:c.15A>G	ENSP00000414775.1:p.Val5=
ENST00000432982.5:c.1A>G
ENST00000444495.1:c.15A>G	ENSP00000409142.1:p.Val5=
ENST00000481054.5:n.16A>G
ENST00000491144.5:n.363A>G
NM_003907.2:c.15A>G	NP_003898.2:p.Val5=
XR_924208.1:n.966A>G
NM_003907.3:c.15A>G MANE Select	NP_003898.2:p.Val5=
XM_011513266.3:c.-887A>G	XP_011511568.1:n.-887A>G
XR_001740352.2:n.378A>G
XR_001740353.2:n.378A>G
XR_924208.2:n.378A>G