Canonical Allele Identifier: CA355385298

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858314G>T (hg19) ; chr3:g.184140526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140526G>T , CM000665.2:g.184140526G>T	GRCh38
NC_000003.11:g.183858314G>T , CM000665.1:g.183858314G>T	GRCh37
NC_000003.10:g.185341008G>T	NCBI36
NG_015826.1:g.10505G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.975G>T
ENST00000468748.7:n.1195G>T
ENST00000484154.2:n.1387-1399G>T
ENST00000491008.6:n.1700G>T
ENST00000492226.2:n.1209G>T
ENST00000492773.6:c.706G>T
ENST00000647636.1:c.952G>T	ENSP00000497505.1:p.Val318Phe
ENST00000647909.1:c.976G>T	ENSP00000498164.1:p.Val326Phe
ENST00000648145.1:c.720G>T
ENST00000648189.1:c.766G>T
ENST00000648256.1:c.924G>T	ENSP00000497356.1:n.924G>T
ENST00000648314.1:c.*71G>T	ENSP00000496920.1:n.*71G>T
ENST00000648599.1:c.*235G>T	ENSP00000497159.1:n.*235G>T
ENST00000648630.1:c.946G>T	ENSP00000497887.1:p.Val316Phe
ENST00000648682.1:c.952G>T	ENSP00000498185.1:p.Val318Phe
ENST00000648882.1:c.*778G>T	ENSP00000497603.1:n.*778G>T
ENST00000648890.1:c.952G>T	ENSP00000497503.1:p.Val318Phe
ENST00000648915.2:c.952G>T MANE Select	ENSP00000497160.1:p.Val318Phe
ENST00000649545.1:c.577+369G>T
ENST00000649688.1:c.*235G>T	ENSP00000497097.1:n.*235G>T
ENST00000649814.1:n.1001G>T
ENST00000650270.1:c.819G>T
ENST00000273783.7:c.952G>T	ENSP00000273783.3:p.Val318Phe
ENST00000432982.5:c.246-1711G>T
ENST00000444495.1:c.952G>T	ENSP00000409142.1:p.Val318Phe
ENST00000468748.5:n.665G>T
ENST00000479833.1:n.268G>T
ENST00000481054.5:n.1046G>T
ENST00000491144.5:n.1456G>T
ENST00000493740.1:n.182G>T
NM_003907.2:c.952G>T	NP_003898.2:p.Val318Phe
XM_011513265.1:c.202G>T	XP_011511567.1:p.Val68Phe
XM_011513266.1:c.115G>T	XP_011511568.1:p.Val39Phe
XR_924208.1:n.1903G>T
NM_003907.3:c.952G>T MANE Select	NP_003898.2:p.Val318Phe
XM_011513266.3:c.115G>T	XP_011511568.1:p.Val39Phe
XR_001740352.2:n.1315G>T
XR_001740353.2:n.1315G>T
XR_924208.2:n.1315G>T