Canonical Allele Identifier: CA437147506

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857906T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140118T>G , CM000665.2:g.184140118T>G	GRCh38
NC_000003.11:g.183857906T>G , CM000665.1:g.183857906T>G	GRCh37
NC_000003.10:g.185340600T>G	NCBI36
NG_015826.1:g.10097T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.827T>G
ENST00000468748.7:n.787T>G
ENST00000484154.2:n.1387-1807T>G
ENST00000491008.6:n.1552T>G
ENST00000492226.2:n.801T>G
ENST00000492773.6:c.558T>G
ENST00000647636.1:c.804T>G	ENSP00000497505.1:p.Thr268=
ENST00000647909.1:c.828T>G	ENSP00000498164.1:p.Thr276=
ENST00000648145.1:c.572T>G
ENST00000648189.1:c.554T>G
ENST00000648256.1:c.776T>G	ENSP00000497356.1:p.Leu259Arg
ENST00000648314.1:c.804T>G	ENSP00000496920.1:p.Thr268=
ENST00000648599.1:c.*87T>G	ENSP00000497159.1:n.*87T>G
ENST00000648630.1:c.798T>G	ENSP00000497887.1:p.Thr266=
ENST00000648682.1:c.804T>G	ENSP00000498185.1:p.Thr268=
ENST00000648882.1:c.*630T>G	ENSP00000497603.1:n.*630T>G
ENST00000648890.1:c.804T>G	ENSP00000497503.1:p.Thr268=
ENST00000648915.2:c.804T>G MANE Select	ENSP00000497160.1:p.Thr268=
ENST00000649545.1:c.538T>G
ENST00000649688.1:c.*87T>G	ENSP00000497097.1:n.*87T>G
ENST00000649814.1:n.853T>G
ENST00000650270.1:c.671T>G
ENST00000273783.7:c.804T>G	ENSP00000273783.3:p.Thr268=
ENST00000432982.5:c.246-2119T>G
ENST00000444495.1:c.804T>G	ENSP00000409142.1:p.Thr268=
ENST00000468748.5:n.257T>G
ENST00000479833.1:n.120T>G
ENST00000481054.5:n.898T>G
ENST00000491008.5:n.768T>G
ENST00000491144.5:n.1244T>G
NM_003907.2:c.804T>G	NP_003898.2:p.Thr268=
XM_011513265.1:c.54T>G	XP_011511567.1:p.Thr18=
XR_924208.1:n.1755T>G
NM_003907.3:c.804T>G MANE Select	NP_003898.2:p.Thr268=
XM_011513266.3:c.-98T>G	XP_011511568.1:n.-98T>G
XR_001740352.2:n.1167T>G
XR_001740353.2:n.1167T>G
XR_924208.2:n.1167T>G