Canonical Allele Identifier: CA355383478

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857914A>T (hg19) ; chr3:g.184140126A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140126A>T , CM000665.2:g.184140126A>T	GRCh38
NC_000003.11:g.183857914A>T , CM000665.1:g.183857914A>T	GRCh37
NC_000003.10:g.185340608A>T	NCBI36
NG_015826.1:g.10105A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.835A>T
ENST00000468748.7:n.795A>T
ENST00000484154.2:n.1387-1799A>T
ENST00000491008.6:n.1560A>T
ENST00000492226.2:n.809A>T
ENST00000492773.6:c.566A>T
ENST00000647636.1:c.812A>T	ENSP00000497505.1:p.Asp271Val
ENST00000647909.1:c.836A>T	ENSP00000498164.1:p.Asp279Val
ENST00000648145.1:c.580A>T
ENST00000648189.1:c.562A>T
ENST00000648256.1:c.784A>T	ENSP00000497356.1:p.Thr262Ser
ENST00000648314.1:c.812A>T	ENSP00000496920.1:p.Asp271Val
ENST00000648599.1:c.*95A>T	ENSP00000497159.1:n.*95A>T
ENST00000648630.1:c.806A>T	ENSP00000497887.1:p.Asp269Val
ENST00000648682.1:c.812A>T	ENSP00000498185.1:p.Asp271Val
ENST00000648882.1:c.*638A>T	ENSP00000497603.1:n.*638A>T
ENST00000648890.1:c.812A>T	ENSP00000497503.1:p.Asp271Val
ENST00000648915.2:c.812A>T MANE Select	ENSP00000497160.1:p.Asp271Val
ENST00000649545.1:c.546A>T
ENST00000649688.1:c.*95A>T	ENSP00000497097.1:n.*95A>T
ENST00000649814.1:n.861A>T
ENST00000650270.1:c.679A>T
ENST00000273783.7:c.812A>T	ENSP00000273783.3:p.Asp271Val
ENST00000432982.5:c.246-2111A>T
ENST00000444495.1:c.812A>T	ENSP00000409142.1:p.Asp271Val
ENST00000468748.5:n.265A>T
ENST00000479833.1:n.128A>T
ENST00000481054.5:n.906A>T
ENST00000491008.5:n.776A>T
ENST00000491144.5:n.1252A>T
NM_003907.2:c.812A>T	NP_003898.2:p.Asp271Val
XM_011513265.1:c.62A>T	XP_011511567.1:p.Asp21Val
XR_924208.1:n.1763A>T
NM_003907.3:c.812A>T MANE Select	NP_003898.2:p.Asp271Val
XM_011513266.3:c.-90A>T	XP_011511568.1:n.-90A>T
XR_001740352.2:n.1175A>T
XR_001740353.2:n.1175A>T
XR_924208.2:n.1175A>T