Canonical Allele Identifier: CA437146641

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1109067
• ClinVar RCV Id: RCV001434767
• dbSNP Id: rs762094442
• gnomAD v3: 3-184138195-G-A
• gnomAD v4: 3-184138195-G-A
• MyVariant Identifiers: chr3:g.183855983G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138195G>A , CM000665.2:g.184138195G>A	GRCh38
NC_000003.11:g.183855983G>A , CM000665.1:g.183855983G>A	GRCh37
NC_000003.10:g.185338677G>A	NCBI36
NG_015826.1:g.8174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.737G>A
ENST00000468748.7:n.697G>A
ENST00000484154.2:n.1335G>A
ENST00000491008.6:n.1462G>A
ENST00000492226.2:n.711G>A
ENST00000492773.6:c.468G>A
ENST00000647636.1:c.714G>A	ENSP00000497505.1:p.Val238=
ENST00000647909.1:c.738G>A	ENSP00000498164.1:p.Val246=
ENST00000648145.1:c.482G>A
ENST00000648189.1:c.464G>A
ENST00000648256.1:c.663G>A	ENSP00000497356.1:p.Val221=
ENST00000648314.1:c.714G>A	ENSP00000496920.1:p.Val238=
ENST00000648599.1:c.714G>A	ENSP00000497159.1:p.Val238=
ENST00000648630.1:c.708G>A	ENSP00000497887.1:p.Val236=
ENST00000648682.1:c.714G>A	ENSP00000498185.1:p.Val238=
ENST00000648882.1:c.*540G>A	ENSP00000497603.1:n.*540G>A
ENST00000648890.1:c.714G>A	ENSP00000497503.1:p.Val238=
ENST00000648915.2:c.714G>A MANE Select	ENSP00000497160.1:p.Val238=
ENST00000649545.1:c.448G>A
ENST00000649688.1:c.714G>A	ENSP00000497097.1:p.Val238=
ENST00000649814.1:n.763G>A
ENST00000650270.1:c.581G>A
ENST00000273783.7:c.714G>A	ENSP00000273783.3:p.Val238=
ENST00000432982.5:c.245+1520G>A
ENST00000444495.1:c.714G>A	ENSP00000409142.1:p.Val238=
ENST00000468748.5:n.167G>A
ENST00000479833.1:n.30G>A
ENST00000481054.5:n.715G>A
ENST00000491008.5:n.678G>A
ENST00000491144.5:n.1154G>A
NM_003907.2:c.714G>A	NP_003898.2:p.Val238=
XR_924208.1:n.1665G>A
NM_003907.3:c.714G>A MANE Select	NP_003898.2:p.Val238=
XM_011513266.3:c.-188G>A	XP_011511568.1:n.-188G>A
XR_001740352.2:n.1077G>A
XR_001740353.2:n.1077G>A
XR_924208.2:n.1077G>A