Canonical Allele Identifier: CA2726504

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140122G>A , CM000665.2:g.184140122G>A	GRCh38
NC_000003.11:g.183857910G>A , CM000665.1:g.183857910G>A	GRCh37
NC_000003.10:g.185340604G>A	NCBI36
NG_015826.1:g.10101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.831G>A
ENST00000468748.7:n.791G>A
ENST00000484154.2:n.1387-1803G>A
ENST00000491008.6:n.1556G>A
ENST00000492226.2:n.805G>A
ENST00000492773.6:c.562G>A
ENST00000647636.1:c.808G>A	ENSP00000497505.1:p.Asp270Asn
ENST00000647909.1:c.832G>A	ENSP00000498164.1:p.Asp278Asn
ENST00000648145.1:c.576G>A
ENST00000648189.1:c.558G>A
ENST00000648256.1:c.780G>A	ENSP00000497356.1:p.Glu260=
ENST00000648314.1:c.808G>A	ENSP00000496920.1:p.Asp270Asn
ENST00000648599.1:c.*91G>A	ENSP00000497159.1:n.*91G>A
ENST00000648630.1:c.802G>A	ENSP00000497887.1:p.Asp268Asn
ENST00000648682.1:c.808G>A	ENSP00000498185.1:p.Asp270Asn
ENST00000648882.1:c.*634G>A	ENSP00000497603.1:n.*634G>A
ENST00000648890.1:c.808G>A	ENSP00000497503.1:p.Asp270Asn
ENST00000648915.2:c.808G>A MANE Select	ENSP00000497160.1:p.Asp270Asn
ENST00000649545.1:c.542G>A
ENST00000649688.1:c.*91G>A	ENSP00000497097.1:n.*91G>A
ENST00000649814.1:n.857G>A
ENST00000650270.1:c.675G>A
ENST00000273783.7:c.808G>A	ENSP00000273783.3:p.Asp270Asn
ENST00000432982.5:c.246-2115G>A
ENST00000444495.1:c.808G>A	ENSP00000409142.1:p.Asp270Asn
ENST00000468748.5:n.261G>A
ENST00000479833.1:n.124G>A
ENST00000481054.5:n.902G>A
ENST00000491008.5:n.772G>A
ENST00000491144.5:n.1248G>A
NM_003907.2:c.808G>A	NP_003898.2:p.Asp270Asn
XM_011513265.1:c.58G>A	XP_011511567.1:p.Asp20Asn
XR_924208.1:n.1759G>A
NM_003907.3:c.808G>A MANE Select	NP_003898.2:p.Asp270Asn
XM_011513266.3:c.-94G>A	XP_011511568.1:n.-94G>A
XR_001740352.2:n.1171G>A
XR_001740353.2:n.1171G>A
XR_924208.2:n.1171G>A