Canonical Allele Identifier: CA355383007

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183856000T>A (hg19) ; chr3:g.184138212T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138212T>A , CM000665.2:g.184138212T>A	GRCh38
NC_000003.11:g.183856000T>A , CM000665.1:g.183856000T>A	GRCh37
NC_000003.10:g.185338694T>A	NCBI36
NG_015826.1:g.8191T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.754T>A
ENST00000468748.7:n.714T>A
ENST00000484154.2:n.1352T>A
ENST00000491008.6:n.1479T>A
ENST00000492226.2:n.728T>A
ENST00000492773.6:c.485T>A
ENST00000647636.1:c.731T>A	ENSP00000497505.1:p.Leu244Ter
ENST00000647909.1:c.755T>A	ENSP00000498164.1:p.Leu252Ter
ENST00000648145.1:c.499T>A
ENST00000648189.1:c.481T>A
ENST00000648256.1:c.680T>A	ENSP00000497356.1:p.Leu227Ter
ENST00000648314.1:c.731T>A	ENSP00000496920.1:p.Leu244Ter
ENST00000648599.1:c.731T>A	ENSP00000497159.1:p.Leu244Ter
ENST00000648630.1:c.725T>A	ENSP00000497887.1:p.Leu242Ter
ENST00000648682.1:c.731T>A	ENSP00000498185.1:p.Leu244Ter
ENST00000648882.1:c.*557T>A	ENSP00000497603.1:n.*557T>A
ENST00000648890.1:c.731T>A	ENSP00000497503.1:p.Leu244Ter
ENST00000648915.2:c.731T>A MANE Select	ENSP00000497160.1:p.Leu244Ter
ENST00000649545.1:c.465T>A
ENST00000649688.1:c.731T>A	ENSP00000497097.1:p.Leu244Ter
ENST00000649814.1:n.780T>A
ENST00000650270.1:c.598T>A
ENST00000273783.7:c.731T>A	ENSP00000273783.3:p.Leu244Ter
ENST00000432982.5:c.245+1537T>A
ENST00000444495.1:c.731T>A	ENSP00000409142.1:p.Leu244Ter
ENST00000468748.5:n.184T>A
ENST00000479833.1:n.47T>A
ENST00000481054.5:n.732T>A
ENST00000491008.5:n.695T>A
ENST00000491144.5:n.1171T>A
NM_003907.2:c.731T>A	NP_003898.2:p.Leu244Ter
XR_924208.1:n.1682T>A
NM_003907.3:c.731T>A MANE Select	NP_003898.2:p.Leu244Ter
XM_011513266.3:c.-171T>A	XP_011511568.1:n.-171T>A
XR_001740352.2:n.1094T>A
XR_001740353.2:n.1094T>A
XR_924208.2:n.1094T>A