Canonical Allele Identifier: CA824084

Gene: EIF2B3

Linked Data

• ClinVar Variation Id: 297448
• ClinVar RCV Id: RCV000317366 ; RCV000960219
• dbSNP Id: rs142753066
• ExAC: 1:45444092 T / A
• gnomAD v2: 1-45444092-T-A
• gnomAD v3: 1-44978420-T-A
• gnomAD v4: 1-44978420-T-A
• MyVariant Identifiers: chr1:g.45444092T>A (hg19) ; chr1:g.44978420T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978420T>A , CM000663.2:g.44978420T>A	GRCh38
NC_000001.10:g.45444092T>A , CM000663.1:g.45444092T>A	GRCh37
NC_000001.9:g.45216679T>A	NCBI36
NG_015864.1:g.13270A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.189A>T MANE Select	ENSP00000353575.2:p.Leu63=
ENST00000360403.6:c.189A>T	ENSP00000353575.2:p.Leu63=
ENST00000372182.6:n.302A>T
ENST00000372183.7:c.189A>T	ENSP00000361257.3:p.Leu63=
ENST00000477953.5:n.292A>T
ENST00000480675.5:c.189A>T	ENSP00000485842.1:p.Leu63=
ENST00000487532.5:n.301A>T
ENST00000497010.1:n.301A>T
ENST00000620860.4:c.189A>T	ENSP00000483996.1:p.Leu63=
NM_001166588.2:c.189A>T	NP_001160060.1:p.Leu63=
NM_001261418.1:c.189A>T	NP_001248347.1:p.Leu63=
NM_020365.4:c.189A>T	NP_065098.1:p.Leu63=
XM_011542396.1:c.189A>T	XP_011540698.1:p.Leu63=
XM_017002745.2:c.189A>T	XP_016858234.1:p.Leu63=
XM_017002746.1:c.-266A>T	XP_016858235.1:n.-266A>T
XM_017002747.1:c.-266A>T	XP_016858236.1:n.-266A>T
NM_020365.5:c.189A>T MANE Select	NP_065098.1:p.Leu63=
NM_001166588.3:c.189A>T	NP_001160060.1:p.Leu63=
NM_001261418.2:c.189A>T	NP_001248347.1:p.Leu63=