Canonical Allele Identifier: CA548395132

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1421144919
• gnomAD v2: 3-183855937-G-A
• gnomAD v4: 3-184138149-G-A
• MyVariant Identifiers: chr3:g.183855937G>A (hg19) ; chr3:g.184138149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138149G>A , CM000665.2:g.184138149G>A	GRCh38
NC_000003.11:g.183855937G>A , CM000665.1:g.183855937G>A	GRCh37
NC_000003.10:g.185338631G>A	NCBI36
NG_015826.1:g.8128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.708-17G>A
ENST00000468748.7:n.668-17G>A
ENST00000484154.2:n.1306-17G>A
ENST00000491008.6:n.1433-17G>A
ENST00000492226.2:n.682-17G>A
ENST00000492773.6:c.422G>A
ENST00000647636.1:c.685-17G>A	ENSP00000497505.1:n.685-17G>A
ENST00000647909.1:c.709-17G>A	ENSP00000498164.1:n.709-17G>A
ENST00000648145.1:c.453-17G>A
ENST00000648189.1:c.435-17G>A
ENST00000648256.1:c.634-17G>A	ENSP00000497356.1:n.634-17G>A
ENST00000648314.1:c.685-17G>A	ENSP00000496920.1:n.685-17G>A
ENST00000648599.1:c.685-17G>A	ENSP00000497159.1:n.685-17G>A
ENST00000648630.1:c.679-17G>A	ENSP00000497887.1:n.679-17G>A
ENST00000648682.1:c.685-17G>A	ENSP00000498185.1:n.685-17G>A
ENST00000648882.1:c.*511-17G>A	ENSP00000497603.1:n.*511-17G>A
ENST00000648890.1:c.685-17G>A	ENSP00000497503.1:n.685-17G>A
ENST00000648915.2:c.685-17G>A MANE Select	ENSP00000497160.1:n.685-17G>A
ENST00000649545.1:c.419-17G>A
ENST00000649688.1:c.685-17G>A	ENSP00000497097.1:n.685-17G>A
ENST00000649814.1:n.734-17G>A
ENST00000650270.1:c.552-17G>A
ENST00000273783.7:c.685-17G>A	ENSP00000273783.3:n.685-17G>A
ENST00000432982.5:c.245+1474G>A
ENST00000444495.1:c.685-17G>A	ENSP00000409142.1:n.685-17G>A
ENST00000468748.5:n.138-17G>A
ENST00000481054.5:n.686-17G>A
ENST00000491008.5:n.649-17G>A
ENST00000491144.5:n.1125-17G>A
NM_003907.2:c.685-17G>A	NP_003898.2:n.685-17G>A
XR_924208.1:n.1636-17G>A
NM_003907.3:c.685-17G>A MANE Select	NP_003898.2:n.685-17G>A
XM_011513266.3:c.-217-17G>A	XP_011511568.1:n.-217-17G>A
XR_001740352.2:n.1048-17G>A
XR_001740353.2:n.1048-17G>A
XR_924208.2:n.1048-17G>A