Canonical Allele Identifier: CA355385191

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858299G>T (hg19) ; chr3:g.184140511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140511G>T , CM000665.2:g.184140511G>T	GRCh38
NC_000003.11:g.183858299G>T , CM000665.1:g.183858299G>T	GRCh37
NC_000003.10:g.185340993G>T	NCBI36
NG_015826.1:g.10490G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.960G>T
ENST00000468748.7:n.1180G>T
ENST00000484154.2:n.1387-1414G>T
ENST00000491008.6:n.1685G>T
ENST00000492226.2:n.1194G>T
ENST00000492773.6:c.691G>T
ENST00000647636.1:c.937G>T	ENSP00000497505.1:p.Val313Phe
ENST00000647909.1:c.961G>T	ENSP00000498164.1:p.Val321Phe
ENST00000648145.1:c.705G>T
ENST00000648189.1:c.751G>T
ENST00000648256.1:c.909G>T	ENSP00000497356.1:n.909G>T
ENST00000648314.1:c.*56G>T	ENSP00000496920.1:n.*56G>T
ENST00000648599.1:c.*220G>T	ENSP00000497159.1:n.*220G>T
ENST00000648630.1:c.931G>T	ENSP00000497887.1:p.Val311Phe
ENST00000648682.1:c.937G>T	ENSP00000498185.1:p.Val313Phe
ENST00000648882.1:c.*763G>T	ENSP00000497603.1:n.*763G>T
ENST00000648890.1:c.937G>T	ENSP00000497503.1:p.Val313Phe
ENST00000648915.2:c.937G>T MANE Select	ENSP00000497160.1:p.Val313Phe
ENST00000649545.1:c.577+354G>T
ENST00000649688.1:c.*220G>T	ENSP00000497097.1:n.*220G>T
ENST00000649814.1:n.986G>T
ENST00000650270.1:c.804G>T
ENST00000273783.7:c.937G>T	ENSP00000273783.3:p.Val313Phe
ENST00000432982.5:c.246-1726G>T
ENST00000444495.1:c.937G>T	ENSP00000409142.1:p.Val313Phe
ENST00000468748.5:n.650G>T
ENST00000479833.1:n.253G>T
ENST00000481054.5:n.1031G>T
ENST00000491144.5:n.1441G>T
ENST00000493740.1:n.167G>T
NM_003907.2:c.937G>T	NP_003898.2:p.Val313Phe
XM_011513265.1:c.187G>T	XP_011511567.1:p.Val63Phe
XM_011513266.1:c.100G>T	XP_011511568.1:p.Val34Phe
XR_924208.1:n.1888G>T
NM_003907.3:c.937G>T MANE Select	NP_003898.2:p.Val313Phe
XM_011513266.3:c.100G>T	XP_011511568.1:p.Val34Phe
XR_001740352.2:n.1300G>T
XR_001740353.2:n.1300G>T
XR_924208.2:n.1300G>T