Canonical Allele Identifier: CA355385330

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858318A>T (hg19) ; chr3:g.184140530A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140530A>T , CM000665.2:g.184140530A>T	GRCh38
NC_000003.11:g.183858318A>T , CM000665.1:g.183858318A>T	GRCh37
NC_000003.10:g.185341012A>T	NCBI36
NG_015826.1:g.10509A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.979A>T
ENST00000468748.7:n.1199A>T
ENST00000484154.2:n.1387-1395A>T
ENST00000491008.6:n.1704A>T
ENST00000492226.2:n.1213A>T
ENST00000492773.6:c.710A>T
ENST00000647636.1:c.956A>T	ENSP00000497505.1:p.Tyr319Phe
ENST00000647909.1:c.980A>T	ENSP00000498164.1:p.Tyr327Phe
ENST00000648145.1:c.724A>T
ENST00000648189.1:c.770A>T
ENST00000648256.1:c.928A>T	ENSP00000497356.1:n.928A>T
ENST00000648314.1:c.*75A>T	ENSP00000496920.1:n.*75A>T
ENST00000648599.1:c.*239A>T	ENSP00000497159.1:n.*239A>T
ENST00000648630.1:c.950A>T	ENSP00000497887.1:p.Tyr317Phe
ENST00000648682.1:c.956A>T	ENSP00000498185.1:p.Tyr319Phe
ENST00000648882.1:c.*782A>T	ENSP00000497603.1:n.*782A>T
ENST00000648890.1:c.956A>T	ENSP00000497503.1:p.Tyr319Phe
ENST00000648915.2:c.956A>T MANE Select	ENSP00000497160.1:p.Tyr319Phe
ENST00000649545.1:c.577+373A>T
ENST00000649688.1:c.*239A>T	ENSP00000497097.1:n.*239A>T
ENST00000649814.1:n.1005A>T
ENST00000650270.1:c.823A>T
ENST00000273783.7:c.956A>T	ENSP00000273783.3:p.Tyr319Phe
ENST00000432982.5:c.246-1707A>T
ENST00000444495.1:c.956A>T	ENSP00000409142.1:p.Tyr319Phe
ENST00000468748.5:n.669A>T
ENST00000479833.1:n.272A>T
ENST00000481054.5:n.1050A>T
ENST00000491144.5:n.1460A>T
ENST00000493740.1:n.186A>T
NM_003907.2:c.956A>T	NP_003898.2:p.Tyr319Phe
XM_011513265.1:c.206A>T	XP_011511567.1:p.Tyr69Phe
XM_011513266.1:c.119A>T	XP_011511568.1:p.Tyr40Phe
XR_924208.1:n.1907A>T
NM_003907.3:c.956A>T MANE Select	NP_003898.2:p.Tyr319Phe
XM_011513266.3:c.119A>T	XP_011511568.1:p.Tyr40Phe
XR_001740352.2:n.1319A>T
XR_001740353.2:n.1319A>T
XR_924208.2:n.1319A>T