Canonical Allele Identifier: CA427445381

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1605347
• ClinVar RCV Id: RCV002135088
• dbSNP Id: rs2104411664
• MyVariant Identifiers: chr2:g.88874739T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575221T>A , CM000664.2:g.88575221T>A	GRCh38
NC_000002.11:g.88874739T>A , CM000664.1:g.88874739T>A	GRCh37
NC_000002.10:g.88655854T>A	NCBI36
NG_016424.1:g.57356A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2090A>T
ENST00000682276.1:n.1707A>T
ENST00000682892.1:c.1809A>T	ENSP00000507214.1:p.Ser603=
ENST00000682952.1:n.1901A>T
ENST00000684455.1:c.1475A>T
ENST00000684642.1:c.1659A>T	ENSP00000507355.1:p.Ser553=
ENST00000684740.1:n.2440A>T
ENST00000303236.9:c.2262A>T MANE Select	ENSP00000307235.3:p.Ser754=
ENST00000652099.1:c.2456A>T
ENST00000652736.1:n.2138A>T
ENST00000303236.7:c.2262A>T	ENSP00000307235.3:p.Ser754=
ENST00000415570.1:c.1899A>T	ENSP00000412076.1:p.Ser633=
ENST00000419748.5:c.1809A>T	ENSP00000408325.1:p.Ser603=
ENST00000470706.1:n.48+140A>T
NM_001313915.1:c.1809A>T	NP_001300844.1:p.Ser603=
NM_004836.5:c.2262A>T	NP_004827.4:p.Ser754=
NM_004836.6:c.2262A>T	NP_004827.4:p.Ser754=
NR_110236.1:n.1358T>A
XM_005264649.3:c.1578A>T	XP_005264706.1:p.Ser526=
XM_017005376.2:c.1578A>T	XP_016860865.1:p.Ser526=
NM_004836.7:c.2262A>T MANE Select	NP_004827.4:p.Ser754=
NM_001313915.2:c.1809A>T	NP_001300844.1:p.Ser603=