Canonical Allele Identifier: CA427445298

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2907928
• ClinVar RCV Id: RCV003727453
• gnomAD v4: 2-88575191-A-G
• MyVariant Identifiers: chr2:g.88874709A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575191A>G , CM000664.2:g.88575191A>G	GRCh38
NC_000002.11:g.88874709A>G , CM000664.1:g.88874709A>G	GRCh37
NC_000002.10:g.88655824A>G	NCBI36
NG_016424.1:g.57386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2120T>C
ENST00000682276.1:n.1737T>C
ENST00000682892.1:c.1839T>C	ENSP00000507214.1:p.Ser613=
ENST00000682952.1:n.1931T>C
ENST00000684455.1:c.1505T>C
ENST00000684642.1:c.1689T>C	ENSP00000507355.1:p.Ser563=
ENST00000684740.1:n.2470T>C
ENST00000303236.9:c.2292T>C MANE Select	ENSP00000307235.3:p.Ser764=
ENST00000652099.1:c.2486T>C
ENST00000652736.1:n.2168T>C
ENST00000303236.7:c.2292T>C	ENSP00000307235.3:p.Ser764=
ENST00000415570.1:c.1929T>C	ENSP00000412076.1:p.Ser643=
ENST00000419748.5:c.1839T>C	ENSP00000408325.1:p.Ser613=
ENST00000470706.1:n.49-114T>C
NM_001313915.1:c.1839T>C	NP_001300844.1:p.Ser613=
NM_004836.5:c.2292T>C	NP_004827.4:p.Ser764=
NM_004836.6:c.2292T>C	NP_004827.4:p.Ser764=
NR_110236.1:n.1328A>G
XM_005264649.3:c.1608T>C	XP_005264706.1:p.Ser536=
XM_017005376.2:c.1608T>C	XP_016860865.1:p.Ser536=
NM_004836.7:c.2292T>C MANE Select	NP_004827.4:p.Ser764=
NM_001313915.2:c.1839T>C	NP_001300844.1:p.Ser613=