Canonical Allele Identifier: CA355382970

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2086534
• ClinVar RCV Id: RCV003007533
• dbSNP Id: rs1713453539
• gnomAD v3: 3-184138203-G-T
• gnomAD v4: 3-184138203-G-T
• MyVariant Identifiers: chr3:g.183855991G>T (hg19) ; chr3:g.184138203G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138203G>T , CM000665.2:g.184138203G>T	GRCh38
NC_000003.11:g.183855991G>T , CM000665.1:g.183855991G>T	GRCh37
NC_000003.10:g.185338685G>T	NCBI36
NG_015826.1:g.8182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.745G>T
ENST00000468748.7:n.705G>T
ENST00000484154.2:n.1343G>T
ENST00000491008.6:n.1470G>T
ENST00000492226.2:n.719G>T
ENST00000492773.6:c.476G>T
ENST00000647636.1:c.722G>T	ENSP00000497505.1:p.Arg241Leu
ENST00000647909.1:c.746G>T	ENSP00000498164.1:p.Arg249Leu
ENST00000648145.1:c.490G>T
ENST00000648189.1:c.472G>T
ENST00000648256.1:c.671G>T	ENSP00000497356.1:p.Arg224Leu
ENST00000648314.1:c.722G>T	ENSP00000496920.1:p.Arg241Leu
ENST00000648599.1:c.722G>T	ENSP00000497159.1:p.Arg241Leu
ENST00000648630.1:c.716G>T	ENSP00000497887.1:p.Arg239Leu
ENST00000648682.1:c.722G>T	ENSP00000498185.1:p.Arg241Leu
ENST00000648882.1:c.*548G>T	ENSP00000497603.1:n.*548G>T
ENST00000648890.1:c.722G>T	ENSP00000497503.1:p.Arg241Leu
ENST00000648915.2:c.722G>T MANE Select	ENSP00000497160.1:p.Arg241Leu
ENST00000649545.1:c.456G>T
ENST00000649688.1:c.722G>T	ENSP00000497097.1:p.Arg241Leu
ENST00000649814.1:n.771G>T
ENST00000650270.1:c.589G>T
ENST00000273783.7:c.722G>T	ENSP00000273783.3:p.Arg241Leu
ENST00000432982.5:c.245+1528G>T
ENST00000444495.1:c.722G>T	ENSP00000409142.1:p.Arg241Leu
ENST00000468748.5:n.175G>T
ENST00000479833.1:n.38G>T
ENST00000481054.5:n.723G>T
ENST00000491008.5:n.686G>T
ENST00000491144.5:n.1162G>T
NM_003907.2:c.722G>T	NP_003898.2:p.Arg241Leu
XR_924208.1:n.1673G>T
NM_003907.3:c.722G>T MANE Select	NP_003898.2:p.Arg241Leu
XM_011513266.3:c.-180G>T	XP_011511568.1:n.-180G>T
XR_001740352.2:n.1085G>T
XR_001740353.2:n.1085G>T
XR_924208.2:n.1085G>T