Canonical Allele Identifier: CA2726634

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142057T>C , CM000665.2:g.184142057T>C	GRCh38
NC_000003.11:g.183859845T>C , CM000665.1:g.183859845T>C	GRCh37
NC_000003.10:g.185342539T>C	NCBI36
NG_015826.1:g.12036T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1312T>C
ENST00000468748.7:n.1532T>C
ENST00000484154.2:n.1519T>C
ENST00000491008.6:n.2037T>C
ENST00000492226.2:n.1556T>C
ENST00000492773.6:c.1043T>C
ENST00000647636.1:c.*138T>C	ENSP00000497505.1:n.*138T>C
ENST00000647909.1:c.1313T>C	ENSP00000498164.1:p.Val438Ala
ENST00000648145.1:c.1061T>C
ENST00000648189.1:c.1107T>C
ENST00000648256.1:c.1261T>C	ENSP00000497356.1:n.1261T>C
ENST00000648314.1:c.*408T>C	ENSP00000496920.1:n.*408T>C
ENST00000648599.1:c.*572T>C	ENSP00000497159.1:n.*572T>C
ENST00000648630.1:c.1168T>C	ENSP00000497887.1:n.1168T>C
ENST00000648682.1:c.*129T>C	ENSP00000498185.1:n.*129T>C
ENST00000648882.1:c.*1115T>C	ENSP00000497603.1:n.*1115T>C
ENST00000648890.1:c.1289T>C	ENSP00000497503.1:p.Val430Ala
ENST00000648915.2:c.1289T>C MANE Select	ENSP00000497160.1:p.Val430Ala
ENST00000649545.1:c.710T>C
ENST00000649688.1:c.*582T>C	ENSP00000497097.1:n.*582T>C
ENST00000649814.1:n.1338T>C
ENST00000650270.1:c.1156T>C
ENST00000273783.7:c.1289T>C	ENSP00000273783.3:p.Val430Ala
ENST00000432982.5:c.246-180T>C
ENST00000444495.1:c.1289T>C	ENSP00000409142.1:p.Val430Ala
ENST00000481054.5:n.1383T>C
ENST00000491144.5:n.1793T>C
ENST00000492773.5:n.172T>C
NM_003907.2:c.1289T>C	NP_003898.2:p.Val430Ala
XM_011513265.1:c.539T>C	XP_011511567.1:p.Val180Ala
XM_011513266.1:c.452T>C	XP_011511568.1:p.Val151Ala
XR_924208.1:n.2240T>C
NM_003907.3:c.1289T>C MANE Select	NP_003898.2:p.Val430Ala
XM_011513266.3:c.452T>C	XP_011511568.1:p.Val151Ala
XR_001740352.2:n.1652T>C
XR_001740353.2:n.1652T>C
XR_924208.2:n.1652T>C