Canonical Allele Identifier: CA427445627

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874856T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575338T>C , CM000664.2:g.88575338T>C	GRCh38
NC_000002.11:g.88874856T>C , CM000664.1:g.88874856T>C	GRCh37
NC_000002.10:g.88655971T>C	NCBI36
NG_016424.1:g.57239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1973A>G
ENST00000682276.1:n.1590A>G
ENST00000682892.1:c.1692A>G	ENSP00000507214.1:p.Ser564=
ENST00000682952.1:n.1784A>G
ENST00000684455.1:c.1358A>G
ENST00000684642.1:c.1542A>G	ENSP00000507355.1:p.Ser514=
ENST00000684740.1:n.2323A>G
ENST00000303236.9:c.2145A>G MANE Select	ENSP00000307235.3:p.Ser715=
ENST00000652099.1:c.2339A>G
ENST00000652736.1:n.2021A>G
ENST00000303236.7:c.2145A>G	ENSP00000307235.3:p.Ser715=
ENST00000415570.1:c.1782A>G	ENSP00000412076.1:p.Ser594=
ENST00000419748.5:c.1692A>G	ENSP00000408325.1:p.Ser564=
ENST00000470706.1:n.48+23A>G
NM_001313915.1:c.1692A>G	NP_001300844.1:p.Ser564=
NM_004836.5:c.2145A>G	NP_004827.4:p.Ser715=
NM_004836.6:c.2145A>G	NP_004827.4:p.Ser715=
NR_110236.1:n.1475T>C
XM_005264649.3:c.1461A>G	XP_005264706.1:p.Ser487=
XR_939749.1:n.2424A>G
XM_017005376.2:c.1461A>G	XP_016860865.1:p.Ser487=
NM_004836.7:c.2145A>G MANE Select	NP_004827.4:p.Ser715=
NM_001313915.2:c.1692A>G	NP_001300844.1:p.Ser564=