Canonical Allele Identifier: CA347592230

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874749A>C (hg19) ; chr2:g.88575231A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575231A>C , CM000664.2:g.88575231A>C	GRCh38
NC_000002.11:g.88874749A>C , CM000664.1:g.88874749A>C	GRCh37
NC_000002.10:g.88655864A>C	NCBI36
NG_016424.1:g.57346T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2080T>G
ENST00000682276.1:n.1697T>G
ENST00000682892.1:c.1799T>G	ENSP00000507214.1:p.Ile600Ser
ENST00000682952.1:n.1891T>G
ENST00000684455.1:c.1465T>G
ENST00000684642.1:c.1649T>G	ENSP00000507355.1:p.Ile550Ser
ENST00000684740.1:n.2430T>G
ENST00000303236.9:c.2252T>G MANE Select	ENSP00000307235.3:p.Ile751Ser
ENST00000652099.1:c.2446T>G
ENST00000652736.1:n.2128T>G
ENST00000303236.7:c.2252T>G	ENSP00000307235.3:p.Ile751Ser
ENST00000415570.1:c.1889T>G	ENSP00000412076.1:p.Ile630Ser
ENST00000419748.5:c.1799T>G	ENSP00000408325.1:p.Ile600Ser
ENST00000470706.1:n.48+130T>G
NM_001313915.1:c.1799T>G	NP_001300844.1:p.Ile600Ser
NM_004836.5:c.2252T>G	NP_004827.4:p.Ile751Ser
NM_004836.6:c.2252T>G	NP_004827.4:p.Ile751Ser
NR_110236.1:n.1368A>C
XM_005264649.3:c.1568T>G	XP_005264706.1:p.Ile523Ser
XM_017005376.2:c.1568T>G	XP_016860865.1:p.Ile523Ser
NM_004836.7:c.2252T>G MANE Select	NP_004827.4:p.Ile751Ser
NM_001313915.2:c.1799T>G	NP_001300844.1:p.Ile600Ser