Canonical Allele Identifier: CA88843361

Gene: EIF2B5

Linked Data

• dbSNP Id: rs965444397
• MyVariant Identifiers: chr3:g.183859844G>A (hg19) ; chr3:g.184142056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142056G>A , CM000665.2:g.184142056G>A	GRCh38
NC_000003.11:g.183859844G>A , CM000665.1:g.183859844G>A	GRCh37
NC_000003.10:g.185342538G>A	NCBI36
NG_015826.1:g.12035G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1311G>A
ENST00000468748.7:n.1531G>A
ENST00000484154.2:n.1518G>A
ENST00000491008.6:n.2036G>A
ENST00000492226.2:n.1555G>A
ENST00000492773.6:c.1042G>A
ENST00000647636.1:c.*137G>A	ENSP00000497505.1:n.*137G>A
ENST00000647909.1:c.1312G>A	ENSP00000498164.1:p.Val438Ile
ENST00000648145.1:c.1060G>A
ENST00000648189.1:c.1106G>A
ENST00000648256.1:c.1260G>A	ENSP00000497356.1:n.1260G>A
ENST00000648314.1:c.*407G>A	ENSP00000496920.1:n.*407G>A
ENST00000648599.1:c.*571G>A	ENSP00000497159.1:n.*571G>A
ENST00000648630.1:c.1167G>A	ENSP00000497887.1:n.1167G>A
ENST00000648682.1:c.*128G>A	ENSP00000498185.1:n.*128G>A
ENST00000648882.1:c.*1114G>A	ENSP00000497603.1:n.*1114G>A
ENST00000648890.1:c.1288G>A	ENSP00000497503.1:p.Val430Ile
ENST00000648915.2:c.1288G>A MANE Select	ENSP00000497160.1:p.Val430Ile
ENST00000649545.1:c.709G>A
ENST00000649688.1:c.*581G>A	ENSP00000497097.1:n.*581G>A
ENST00000649814.1:n.1337G>A
ENST00000650270.1:c.1155G>A
ENST00000273783.7:c.1288G>A	ENSP00000273783.3:p.Val430Ile
ENST00000432982.5:c.246-181G>A
ENST00000444495.1:c.1288G>A	ENSP00000409142.1:p.Val430Ile
ENST00000481054.5:n.1382G>A
ENST00000491144.5:n.1792G>A
ENST00000492773.5:n.171G>A
NM_003907.2:c.1288G>A	NP_003898.2:p.Val430Ile
XM_011513265.1:c.538G>A	XP_011511567.1:p.Val180Ile
XM_011513266.1:c.451G>A	XP_011511568.1:p.Val151Ile
XR_924208.1:n.2239G>A
NM_003907.3:c.1288G>A MANE Select	NP_003898.2:p.Val430Ile
XM_011513266.3:c.451G>A	XP_011511568.1:p.Val151Ile
XR_001740352.2:n.1651G>A
XR_001740353.2:n.1651G>A
XR_924208.2:n.1651G>A