Canonical Allele Identifier: CA427445142

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874631A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575113A>C , CM000664.2:g.88575113A>C	GRCh38
NC_000002.11:g.88874631A>C , CM000664.1:g.88874631A>C	GRCh37
NC_000002.10:g.88655746A>C	NCBI36
NG_016424.1:g.57464T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2198T>G
ENST00000682276.1:n.1815T>G
ENST00000682892.1:c.1917T>G	ENSP00000507214.1:p.Ser639=
ENST00000682952.1:n.2009T>G
ENST00000684455.1:c.1583T>G
ENST00000684642.1:c.1767T>G	ENSP00000507355.1:p.Ser589=
ENST00000684740.1:n.2548T>G
ENST00000303236.9:c.2370T>G MANE Select	ENSP00000307235.3:p.Ser790=
ENST00000652099.1:c.2564T>G
ENST00000652736.1:n.2246T>G
ENST00000303236.7:c.2370T>G	ENSP00000307235.3:p.Ser790=
ENST00000415570.1:c.2007T>G	ENSP00000412076.1:p.Ser669=
ENST00000419748.5:c.1917T>G	ENSP00000408325.1:p.Ser639=
ENST00000470706.1:n.49-36T>G
NM_001313915.1:c.1917T>G	NP_001300844.1:p.Ser639=
NM_004836.5:c.2370T>G	NP_004827.4:p.Ser790=
NM_004836.6:c.2370T>G	NP_004827.4:p.Ser790=
NR_110236.1:n.1250A>C
XM_005264649.3:c.1686T>G	XP_005264706.1:p.Ser562=
XM_017005376.2:c.1686T>G	XP_016860865.1:p.Ser562=
NM_004836.7:c.2370T>G MANE Select	NP_004827.4:p.Ser790=
NM_001313915.2:c.1917T>G	NP_001300844.1:p.Ser639=