Canonical Allele Identifier: CA355382256

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1180735828
• gnomAD v3: 3-184137960-C-A
• gnomAD v4: 3-184137960-C-A
• MyVariant Identifiers: chr3:g.183855748C>A (hg19) ; chr3:g.184137960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137960C>A , CM000665.2:g.184137960C>A	GRCh38
NC_000003.11:g.183855748C>A , CM000665.1:g.183855748C>A	GRCh37
NC_000003.10:g.185338442C>A	NCBI36
NG_015826.1:g.7939C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.592C>A
ENST00000468748.7:n.552C>A
ENST00000484154.2:n.1190C>A
ENST00000491008.6:n.1317C>A
ENST00000492226.2:n.566C>A
ENST00000492773.6:c.301C>A
ENST00000647636.1:c.569C>A	ENSP00000497505.1:p.Pro190His
ENST00000647909.1:c.593C>A	ENSP00000498164.1:p.Pro198His
ENST00000648145.1:c.337C>A
ENST00000648189.1:c.319C>A
ENST00000648256.1:c.518C>A	ENSP00000497356.1:p.Pro173His
ENST00000648314.1:c.569C>A	ENSP00000496920.1:p.Pro190His
ENST00000648599.1:c.569C>A	ENSP00000497159.1:p.Pro190His
ENST00000648630.1:c.563C>A	ENSP00000497887.1:p.Pro188His
ENST00000648682.1:c.569C>A	ENSP00000498185.1:p.Pro190His
ENST00000648882.1:c.*395C>A	ENSP00000497603.1:n.*395C>A
ENST00000648890.1:c.569C>A	ENSP00000497503.1:p.Pro190His
ENST00000648915.2:c.569C>A MANE Select	ENSP00000497160.1:p.Pro190His
ENST00000649545.1:c.303C>A
ENST00000649688.1:c.569C>A	ENSP00000497097.1:p.Pro190His
ENST00000649814.1:n.618C>A
ENST00000650270.1:c.436C>A
ENST00000273783.7:c.569C>A	ENSP00000273783.3:p.Pro190His
ENST00000432982.5:c.245+1285C>A
ENST00000444495.1:c.569C>A	ENSP00000409142.1:p.Pro190His
ENST00000468748.5:n.22C>A
ENST00000481054.5:n.570C>A
ENST00000491008.5:n.533C>A
ENST00000491144.5:n.1009C>A
ENST00000498831.1:n.524C>A
NM_003907.2:c.569C>A	NP_003898.2:p.Pro190His
XR_924208.1:n.1520C>A
NM_003907.3:c.569C>A MANE Select	NP_003898.2:p.Pro190His
XM_011513266.3:c.-333C>A	XP_011511568.1:n.-333C>A
XR_001740352.2:n.932C>A
XR_001740353.2:n.932C>A
XR_924208.2:n.932C>A