Canonical Allele Identifier: CA355382277

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1486675695
• gnomAD v2: 3-183855757-C-T
• gnomAD v4: 3-184137969-C-T
• MyVariant Identifiers: chr3:g.183855757C>T (hg19) ; chr3:g.184137969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137969C>T , CM000665.2:g.184137969C>T	GRCh38
NC_000003.11:g.183855757C>T , CM000665.1:g.183855757C>T	GRCh37
NC_000003.10:g.185338451C>T	NCBI36
NG_015826.1:g.7948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.601C>T
ENST00000468748.7:n.561C>T
ENST00000484154.2:n.1199C>T
ENST00000491008.6:n.1326C>T
ENST00000492226.2:n.575C>T
ENST00000492773.6:c.310C>T
ENST00000647636.1:c.578C>T	ENSP00000497505.1:p.Pro193Leu
ENST00000647909.1:c.602C>T	ENSP00000498164.1:p.Pro201Leu
ENST00000648145.1:c.346C>T
ENST00000648189.1:c.328C>T
ENST00000648256.1:c.527C>T	ENSP00000497356.1:p.Pro176Leu
ENST00000648314.1:c.578C>T	ENSP00000496920.1:p.Pro193Leu
ENST00000648599.1:c.578C>T	ENSP00000497159.1:p.Pro193Leu
ENST00000648630.1:c.572C>T	ENSP00000497887.1:p.Pro191Leu
ENST00000648682.1:c.578C>T	ENSP00000498185.1:p.Pro193Leu
ENST00000648882.1:c.*404C>T	ENSP00000497603.1:n.*404C>T
ENST00000648890.1:c.578C>T	ENSP00000497503.1:p.Pro193Leu
ENST00000648915.2:c.578C>T MANE Select	ENSP00000497160.1:p.Pro193Leu
ENST00000649545.1:c.312C>T
ENST00000649688.1:c.578C>T	ENSP00000497097.1:p.Pro193Leu
ENST00000649814.1:n.627C>T
ENST00000650270.1:c.445C>T
ENST00000273783.7:c.578C>T	ENSP00000273783.3:p.Pro193Leu
ENST00000432982.5:c.245+1294C>T
ENST00000444495.1:c.578C>T	ENSP00000409142.1:p.Pro193Leu
ENST00000468748.5:n.31C>T
ENST00000481054.5:n.579C>T
ENST00000491008.5:n.542C>T
ENST00000491144.5:n.1018C>T
ENST00000498831.1:n.533C>T
NM_003907.2:c.578C>T	NP_003898.2:p.Pro193Leu
XR_924208.1:n.1529C>T
NM_003907.3:c.578C>T MANE Select	NP_003898.2:p.Pro193Leu
XM_011513266.3:c.-324C>T	XP_011511568.1:n.-324C>T
XR_001740352.2:n.941C>T
XR_001740353.2:n.941C>T
XR_924208.2:n.941C>T