Canonical Allele Identifier: CA355382188

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855718T>C (hg19) ; chr3:g.184137930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137930T>C , CM000665.2:g.184137930T>C	GRCh38
NC_000003.11:g.183855718T>C , CM000665.1:g.183855718T>C	GRCh37
NC_000003.10:g.185338412T>C	NCBI36
NG_015826.1:g.7909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.562T>C
ENST00000468748.7:n.522T>C
ENST00000484154.2:n.1160T>C
ENST00000491008.6:n.1287T>C
ENST00000492226.2:n.536T>C
ENST00000492773.6:c.271T>C
ENST00000647636.1:c.539T>C	ENSP00000497505.1:p.Val180Ala
ENST00000647909.1:c.563T>C	ENSP00000498164.1:p.Val188Ala
ENST00000648145.1:c.307T>C
ENST00000648189.1:c.289T>C
ENST00000648256.1:c.488T>C	ENSP00000497356.1:p.Val163Ala
ENST00000648314.1:c.539T>C	ENSP00000496920.1:p.Val180Ala
ENST00000648599.1:c.539T>C	ENSP00000497159.1:p.Val180Ala
ENST00000648630.1:c.533T>C	ENSP00000497887.1:p.Val178Ala
ENST00000648682.1:c.539T>C	ENSP00000498185.1:p.Val180Ala
ENST00000648882.1:c.*365T>C	ENSP00000497603.1:n.*365T>C
ENST00000648890.1:c.539T>C	ENSP00000497503.1:p.Val180Ala
ENST00000648915.2:c.539T>C MANE Select	ENSP00000497160.1:p.Val180Ala
ENST00000649545.1:c.273T>C
ENST00000649688.1:c.539T>C	ENSP00000497097.1:p.Val180Ala
ENST00000649814.1:n.588T>C
ENST00000650244.1:c.684T>C	ENSP00000497227.1:n.684T>C
ENST00000650270.1:c.406T>C
ENST00000273783.7:c.539T>C	ENSP00000273783.3:p.Val180Ala
ENST00000432982.5:c.245+1255T>C
ENST00000444495.1:c.539T>C	ENSP00000409142.1:p.Val180Ala
ENST00000481054.5:n.540T>C
ENST00000491008.5:n.503T>C
ENST00000491144.5:n.979T>C
ENST00000498831.1:n.494T>C
NM_003907.2:c.539T>C	NP_003898.2:p.Val180Ala
XR_924208.1:n.1490T>C
NM_003907.3:c.539T>C MANE Select	NP_003898.2:p.Val180Ala
XM_011513266.3:c.-363T>C	XP_011511568.1:n.-363T>C
XR_001740352.2:n.902T>C
XR_001740353.2:n.902T>C
XR_924208.2:n.902T>C