Canonical Allele Identifier: CA2726420

Gene: EIF2B5

Linked Data

• dbSNP Id: rs141730110
• ExAC: 3:183855738 G / A
• gnomAD v2: 3-183855738-G-A
• gnomAD v3: 3-184137950-G-A
• gnomAD v4: 3-184137950-G-A
• MyVariant Identifiers: chr3:g.183855738G>A (hg19) ; chr3:g.184137950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137950G>A , CM000665.2:g.184137950G>A	GRCh38
NC_000003.11:g.183855738G>A , CM000665.1:g.183855738G>A	GRCh37
NC_000003.10:g.185338432G>A	NCBI36
NG_015826.1:g.7929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.582G>A
ENST00000468748.7:n.542G>A
ENST00000484154.2:n.1180G>A
ENST00000491008.6:n.1307G>A
ENST00000492226.2:n.556G>A
ENST00000492773.6:c.291G>A
ENST00000647636.1:c.559G>A	ENSP00000497505.1:p.Glu187Lys
ENST00000647909.1:c.583G>A	ENSP00000498164.1:p.Glu195Lys
ENST00000648145.1:c.327G>A
ENST00000648189.1:c.309G>A
ENST00000648256.1:c.508G>A	ENSP00000497356.1:p.Glu170Lys
ENST00000648314.1:c.559G>A	ENSP00000496920.1:p.Glu187Lys
ENST00000648599.1:c.559G>A	ENSP00000497159.1:p.Glu187Lys
ENST00000648630.1:c.553G>A	ENSP00000497887.1:p.Glu185Lys
ENST00000648682.1:c.559G>A	ENSP00000498185.1:p.Glu187Lys
ENST00000648882.1:c.*385G>A	ENSP00000497603.1:n.*385G>A
ENST00000648890.1:c.559G>A	ENSP00000497503.1:p.Glu187Lys
ENST00000648915.2:c.559G>A MANE Select	ENSP00000497160.1:p.Glu187Lys
ENST00000649545.1:c.293G>A
ENST00000649688.1:c.559G>A	ENSP00000497097.1:p.Glu187Lys
ENST00000649814.1:n.608G>A
ENST00000650270.1:c.426G>A
ENST00000273783.7:c.559G>A	ENSP00000273783.3:p.Glu187Lys
ENST00000432982.5:c.245+1275G>A
ENST00000444495.1:c.559G>A	ENSP00000409142.1:p.Glu187Lys
ENST00000468748.5:n.12G>A
ENST00000481054.5:n.560G>A
ENST00000491008.5:n.523G>A
ENST00000491144.5:n.999G>A
ENST00000498831.1:n.514G>A
NM_003907.2:c.559G>A	NP_003898.2:p.Glu187Lys
XR_924208.1:n.1510G>A
NM_003907.3:c.559G>A MANE Select	NP_003898.2:p.Glu187Lys
XM_011513266.3:c.-343G>A	XP_011511568.1:n.-343G>A
XR_001740352.2:n.922G>A
XR_001740353.2:n.922G>A
XR_924208.2:n.922G>A