Canonical Allele Identifier: CA427445433

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874766T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575248T>C , CM000664.2:g.88575248T>C	GRCh38
NC_000002.11:g.88874766T>C , CM000664.1:g.88874766T>C	GRCh37
NC_000002.10:g.88655881T>C	NCBI36
NG_016424.1:g.57329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2063A>G
ENST00000682276.1:n.1680A>G
ENST00000682892.1:c.1782A>G	ENSP00000507214.1:p.Gly594=
ENST00000682952.1:n.1874A>G
ENST00000684455.1:c.1448A>G
ENST00000684642.1:c.1632A>G	ENSP00000507355.1:p.Gly544=
ENST00000684740.1:n.2413A>G
ENST00000303236.9:c.2235A>G MANE Select	ENSP00000307235.3:p.Gly745=
ENST00000652099.1:c.2429A>G
ENST00000652736.1:n.2111A>G
ENST00000303236.7:c.2235A>G	ENSP00000307235.3:p.Gly745=
ENST00000415570.1:c.1872A>G	ENSP00000412076.1:p.Gly624=
ENST00000419748.5:c.1782A>G	ENSP00000408325.1:p.Gly594=
ENST00000470706.1:n.48+113A>G
NM_001313915.1:c.1782A>G	NP_001300844.1:p.Gly594=
NM_004836.5:c.2235A>G	NP_004827.4:p.Gly745=
NM_004836.6:c.2235A>G	NP_004827.4:p.Gly745=
NR_110236.1:n.1385T>C
XM_005264649.3:c.1551A>G	XP_005264706.1:p.Gly517=
XM_017005376.2:c.1551A>G	XP_016860865.1:p.Gly517=
NM_004836.7:c.2235A>G MANE Select	NP_004827.4:p.Gly745=
NM_001313915.2:c.1782A>G	NP_001300844.1:p.Gly594=