Canonical Allele Identifier: CA417472030

Gene: EIF2B3

Linked Data

• ClinVar Variation Id: 2796349
• ClinVar RCV Id: RCV003668145
• dbSNP Id: rs1480814520
• gnomAD v2: 1-45444041-A-G
• gnomAD v3: 1-44978369-A-G
• gnomAD v4: 1-44978369-A-G
• MyVariant Identifiers: chr1:g.45444041A>G (hg19) ; chr1:g.44978369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978369A>G , CM000663.2:g.44978369A>G	GRCh38
NC_000001.10:g.45444041A>G , CM000663.1:g.45444041A>G	GRCh37
NC_000001.9:g.45216628A>G	NCBI36
NG_015864.1:g.13321T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.240T>C MANE Select	ENSP00000353575.2:p.Asp80=
ENST00000360403.6:c.240T>C	ENSP00000353575.2:p.Asp80=
ENST00000372182.6:n.353T>C
ENST00000372183.7:c.240T>C	ENSP00000361257.3:p.Asp80=
ENST00000477953.5:n.343T>C
ENST00000480675.5:c.240T>C	ENSP00000485842.1:p.Asp80=
ENST00000487532.5:n.352T>C
ENST00000497010.1:n.352T>C
ENST00000620860.4:c.240T>C	ENSP00000483996.1:p.Asp80=
NM_001166588.2:c.240T>C	NP_001160060.1:p.Asp80=
NM_001261418.1:c.240T>C	NP_001248347.1:p.Asp80=
NM_020365.4:c.240T>C	NP_065098.1:p.Asp80=
XM_011542396.1:c.240T>C	XP_011540698.1:p.Asp80=
XM_017002745.2:c.240T>C	XP_016858234.1:p.Asp80=
XM_017002746.1:c.-215T>C	XP_016858235.1:n.-215T>C
XM_017002747.1:c.-215T>C	XP_016858236.1:n.-215T>C
NM_020365.5:c.240T>C MANE Select	NP_065098.1:p.Asp80=
NM_001166588.3:c.240T>C	NP_001160060.1:p.Asp80=
NM_001261418.2:c.240T>C	NP_001248347.1:p.Asp80=