Canonical Allele Identifier: CA437147527

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857921G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140133G>T , CM000665.2:g.184140133G>T	GRCh38
NC_000003.11:g.183857921G>T , CM000665.1:g.183857921G>T	GRCh37
NC_000003.10:g.185340615G>T	NCBI36
NG_015826.1:g.10112G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.842G>T
ENST00000468748.7:n.802G>T
ENST00000484154.2:n.1387-1792G>T
ENST00000491008.6:n.1567G>T
ENST00000492226.2:n.816G>T
ENST00000492773.6:c.573G>T
ENST00000647636.1:c.819G>T	ENSP00000497505.1:p.Val273=
ENST00000647909.1:c.843G>T	ENSP00000498164.1:p.Val281=
ENST00000648145.1:c.587G>T
ENST00000648189.1:c.569G>T
ENST00000648256.1:c.791G>T	ENSP00000497356.1:p.Cys264Phe
ENST00000648314.1:c.819G>T	ENSP00000496920.1:p.Val273=
ENST00000648599.1:c.*102G>T	ENSP00000497159.1:n.*102G>T
ENST00000648630.1:c.813G>T	ENSP00000497887.1:p.Val271=
ENST00000648682.1:c.819G>T	ENSP00000498185.1:p.Val273=
ENST00000648882.1:c.*645G>T	ENSP00000497603.1:n.*645G>T
ENST00000648890.1:c.819G>T	ENSP00000497503.1:p.Val273=
ENST00000648915.2:c.819G>T MANE Select	ENSP00000497160.1:p.Val273=
ENST00000649545.1:c.553G>T
ENST00000649688.1:c.*102G>T	ENSP00000497097.1:n.*102G>T
ENST00000649814.1:n.868G>T
ENST00000650270.1:c.686G>T
ENST00000273783.7:c.819G>T	ENSP00000273783.3:p.Val273=
ENST00000432982.5:c.246-2104G>T
ENST00000444495.1:c.819G>T	ENSP00000409142.1:p.Val273=
ENST00000468748.5:n.272G>T
ENST00000479833.1:n.135G>T
ENST00000481054.5:n.913G>T
ENST00000491008.5:n.783G>T
ENST00000491144.5:n.1259G>T
NM_003907.2:c.819G>T	NP_003898.2:p.Val273=
XM_011513265.1:c.69G>T	XP_011511567.1:p.Val23=
XR_924208.1:n.1770G>T
NM_003907.3:c.819G>T MANE Select	NP_003898.2:p.Val273=
XM_011513266.3:c.-83G>T	XP_011511568.1:n.-83G>T
XR_001740352.2:n.1182G>T
XR_001740353.2:n.1182G>T
XR_924208.2:n.1182G>T