Canonical Allele Identifier: CA2726591

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140727A>G , CM000665.2:g.184140727A>G	GRCh38
NC_000003.11:g.183858515A>G , CM000665.1:g.183858515A>G	GRCh37
NC_000003.10:g.185341209A>G	NCBI36
NG_015826.1:g.10706A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1176A>G
ENST00000468748.7:n.1396A>G
ENST00000484154.2:n.1387-1198A>G
ENST00000491008.6:n.1901A>G
ENST00000492226.2:n.1410A>G
ENST00000492773.6:c.907A>G
ENST00000647636.1:c.1153A>G	ENSP00000497505.1:p.Ile385Val
ENST00000647909.1:c.1177A>G	ENSP00000498164.1:p.Ile393Val
ENST00000648145.1:c.921A>G
ENST00000648189.1:c.967A>G
ENST00000648256.1:c.1125A>G	ENSP00000497356.1:n.1125A>G
ENST00000648314.1:c.*272A>G	ENSP00000496920.1:n.*272A>G
ENST00000648599.1:c.*436A>G	ENSP00000497159.1:n.*436A>G
ENST00000648630.1:c.1035+112A>G	ENSP00000497887.1:n.1035+112A>G
ENST00000648682.1:c.1153A>G	ENSP00000498185.1:p.Ile385Val
ENST00000648882.1:c.*979A>G	ENSP00000497603.1:n.*979A>G
ENST00000648890.1:c.1153A>G	ENSP00000497503.1:p.Ile385Val
ENST00000648915.2:c.1153A>G MANE Select	ENSP00000497160.1:p.Ile385Val
ENST00000649545.1:c.577+570A>G
ENST00000649688.1:c.*436A>G	ENSP00000497097.1:n.*436A>G
ENST00000649814.1:n.1202A>G
ENST00000650270.1:c.1020A>G
ENST00000273783.7:c.1153A>G	ENSP00000273783.3:p.Ile385Val
ENST00000432982.5:c.246-1510A>G
ENST00000444495.1:c.1153A>G	ENSP00000409142.1:p.Ile385Val
ENST00000479833.1:n.357+112A>G
ENST00000481054.5:n.1247A>G
ENST00000491144.5:n.1657A>G
ENST00000492773.5:n.36A>G
ENST00000493740.1:n.383A>G
NM_003907.2:c.1153A>G	NP_003898.2:p.Ile385Val
XM_011513265.1:c.403A>G	XP_011511567.1:p.Ile135Val
XM_011513266.1:c.316A>G	XP_011511568.1:p.Ile106Val
XR_924208.1:n.2104A>G
NM_003907.3:c.1153A>G MANE Select	NP_003898.2:p.Ile385Val
XM_011513266.3:c.316A>G	XP_011511568.1:p.Ile106Val
XR_001740352.2:n.1516A>G
XR_001740353.2:n.1516A>G
XR_924208.2:n.1516A>G