Canonical Allele Identifier: CA2726426

Gene: EIF2B5

Linked Data

• dbSNP Id: rs2971410
• ExAC: 3:183855771 G / C
• gnomAD v2: 3-183855771-G-C
• gnomAD v3: 3-184137983-G-C
• gnomAD v4: 3-184137983-G-C
• MyVariant Identifiers: chr3:g.183855771G>C (hg19) ; chr3:g.184137983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137983G>C , CM000665.2:g.184137983G>C	GRCh38
NC_000003.11:g.183855771G>C , CM000665.1:g.183855771G>C	GRCh37
NC_000003.10:g.185338465G>C	NCBI36
NG_015826.1:g.7962G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.615G>C
ENST00000468748.7:n.575G>C
ENST00000484154.2:n.1213G>C
ENST00000491008.6:n.1340G>C
ENST00000492226.2:n.589G>C
ENST00000492773.6:c.324G>C
ENST00000647636.1:c.592G>C	ENSP00000497505.1:p.Glu198Gln
ENST00000647909.1:c.616G>C	ENSP00000498164.1:p.Glu206Gln
ENST00000648145.1:c.360G>C
ENST00000648189.1:c.342G>C
ENST00000648256.1:c.541G>C	ENSP00000497356.1:p.Glu181Gln
ENST00000648314.1:c.592G>C	ENSP00000496920.1:p.Glu198Gln
ENST00000648599.1:c.592G>C	ENSP00000497159.1:p.Glu198Gln
ENST00000648630.1:c.586G>C	ENSP00000497887.1:p.Glu196Gln
ENST00000648682.1:c.592G>C	ENSP00000498185.1:p.Glu198Gln
ENST00000648882.1:c.*418G>C	ENSP00000497603.1:n.*418G>C
ENST00000648890.1:c.592G>C	ENSP00000497503.1:p.Glu198Gln
ENST00000648915.2:c.592G>C MANE Select	ENSP00000497160.1:p.Glu198Gln
ENST00000649545.1:c.326G>C
ENST00000649688.1:c.592G>C	ENSP00000497097.1:p.Glu198Gln
ENST00000649814.1:n.641G>C
ENST00000650270.1:c.459G>C
ENST00000273783.7:c.592G>C	ENSP00000273783.3:p.Glu198Gln
ENST00000432982.5:c.245+1308G>C
ENST00000444495.1:c.592G>C	ENSP00000409142.1:p.Glu198Gln
ENST00000468748.5:n.45G>C
ENST00000481054.5:n.593G>C
ENST00000491008.5:n.556G>C
ENST00000491144.5:n.1032G>C
ENST00000498831.1:n.547G>C
NM_003907.2:c.592G>C	NP_003898.2:p.Glu198Gln
XR_924208.1:n.1543G>C
NM_003907.3:c.592G>C MANE Select	NP_003898.2:p.Glu198Gln
XM_011513266.3:c.-310G>C	XP_011511568.1:n.-310G>C
XR_001740352.2:n.955G>C
XR_001740353.2:n.955G>C
XR_924208.2:n.955G>C