Canonical Allele Identifier: CA355382955

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138199-G-A
• MyVariant Identifiers: chr3:g.183855987G>A (hg19) ; chr3:g.184138199G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138199G>A , CM000665.2:g.184138199G>A	GRCh38
NC_000003.11:g.183855987G>A , CM000665.1:g.183855987G>A	GRCh37
NC_000003.10:g.185338681G>A	NCBI36
NG_015826.1:g.8178G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.741G>A
ENST00000468748.7:n.701G>A
ENST00000484154.2:n.1339G>A
ENST00000491008.6:n.1466G>A
ENST00000492226.2:n.715G>A
ENST00000492773.6:c.472G>A
ENST00000647636.1:c.718G>A	ENSP00000497505.1:p.Val240Ile
ENST00000647909.1:c.742G>A	ENSP00000498164.1:p.Val248Ile
ENST00000648145.1:c.486G>A
ENST00000648189.1:c.468G>A
ENST00000648256.1:c.667G>A	ENSP00000497356.1:p.Val223Ile
ENST00000648314.1:c.718G>A	ENSP00000496920.1:p.Val240Ile
ENST00000648599.1:c.718G>A	ENSP00000497159.1:p.Val240Ile
ENST00000648630.1:c.712G>A	ENSP00000497887.1:p.Val238Ile
ENST00000648682.1:c.718G>A	ENSP00000498185.1:p.Val240Ile
ENST00000648882.1:c.*544G>A	ENSP00000497603.1:n.*544G>A
ENST00000648890.1:c.718G>A	ENSP00000497503.1:p.Val240Ile
ENST00000648915.2:c.718G>A MANE Select	ENSP00000497160.1:p.Val240Ile
ENST00000649545.1:c.452G>A
ENST00000649688.1:c.718G>A	ENSP00000497097.1:p.Val240Ile
ENST00000649814.1:n.767G>A
ENST00000650270.1:c.585G>A
ENST00000273783.7:c.718G>A	ENSP00000273783.3:p.Val240Ile
ENST00000432982.5:c.245+1524G>A
ENST00000444495.1:c.718G>A	ENSP00000409142.1:p.Val240Ile
ENST00000468748.5:n.171G>A
ENST00000479833.1:n.34G>A
ENST00000481054.5:n.719G>A
ENST00000491008.5:n.682G>A
ENST00000491144.5:n.1158G>A
NM_003907.2:c.718G>A	NP_003898.2:p.Val240Ile
XR_924208.1:n.1669G>A
NM_003907.3:c.718G>A MANE Select	NP_003898.2:p.Val240Ile
XM_011513266.3:c.-184G>A	XP_011511568.1:n.-184G>A
XR_001740352.2:n.1081G>A
XR_001740353.2:n.1081G>A
XR_924208.2:n.1081G>A