Canonical Allele Identifier: CA824088

Gene: EIF2B3

Linked Data

• ClinVar Variation Id: 2170322
• ClinVar RCV Id: RCV003095478
• dbSNP Id: rs747049484
• ExAC: 1:45444131 T / C
• gnomAD v2: 1-45444131-T-C
• gnomAD v3: 1-44978459-T-C
• gnomAD v4: 1-44978459-T-C
• MyVariant Identifiers: chr1:g.45444131T>C (hg19) ; chr1:g.44978459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978459T>C , CM000663.2:g.44978459T>C	GRCh38
NC_000001.10:g.45444131T>C , CM000663.1:g.45444131T>C	GRCh37
NC_000001.9:g.45216718T>C	NCBI36
NG_015864.1:g.13231A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.150A>G MANE Select	ENSP00000353575.2:p.Glu50=
ENST00000360403.6:c.150A>G	ENSP00000353575.2:p.Glu50=
ENST00000372182.6:n.263A>G
ENST00000372183.7:c.150A>G	ENSP00000361257.3:p.Glu50=
ENST00000477953.5:n.253A>G
ENST00000480675.5:c.150A>G	ENSP00000485842.1:p.Glu50=
ENST00000487532.5:n.262A>G
ENST00000497010.1:n.262A>G
ENST00000620860.4:c.150A>G	ENSP00000483996.1:p.Glu50=
NM_001166588.2:c.150A>G	NP_001160060.1:p.Glu50=
NM_001261418.1:c.150A>G	NP_001248347.1:p.Glu50=
NM_020365.4:c.150A>G	NP_065098.1:p.Glu50=
XM_011542396.1:c.150A>G	XP_011540698.1:p.Glu50=
XM_017002745.2:c.150A>G	XP_016858234.1:p.Glu50=
XM_017002746.1:c.-305A>G	XP_016858235.1:n.-305A>G
XM_017002747.1:c.-305A>G	XP_016858236.1:n.-305A>G
NM_020365.5:c.150A>G MANE Select	NP_065098.1:p.Glu50=
NM_001166588.3:c.150A>G	NP_001160060.1:p.Glu50=
NM_001261418.2:c.150A>G	NP_001248347.1:p.Glu50=