Canonical Allele Identifier: CA427445231

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874685T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575167T>C , CM000664.2:g.88575167T>C	GRCh38
NC_000002.11:g.88874685T>C , CM000664.1:g.88874685T>C	GRCh37
NC_000002.10:g.88655800T>C	NCBI36
NG_016424.1:g.57410A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2144A>G
ENST00000682276.1:n.1761A>G
ENST00000682892.1:c.1863A>G	ENSP00000507214.1:p.Glu621=
ENST00000682952.1:n.1955A>G
ENST00000684455.1:c.1529A>G
ENST00000684642.1:c.1713A>G	ENSP00000507355.1:p.Glu571=
ENST00000684740.1:n.2494A>G
ENST00000303236.9:c.2316A>G MANE Select	ENSP00000307235.3:p.Glu772=
ENST00000652099.1:c.2510A>G
ENST00000652736.1:n.2192A>G
ENST00000303236.7:c.2316A>G	ENSP00000307235.3:p.Glu772=
ENST00000415570.1:c.1953A>G	ENSP00000412076.1:p.Glu651=
ENST00000419748.5:c.1863A>G	ENSP00000408325.1:p.Glu621=
ENST00000470706.1:n.49-90A>G
NM_001313915.1:c.1863A>G	NP_001300844.1:p.Glu621=
NM_004836.5:c.2316A>G	NP_004827.4:p.Glu772=
NM_004836.6:c.2316A>G	NP_004827.4:p.Glu772=
NR_110236.1:n.1304T>C
XM_005264649.3:c.1632A>G	XP_005264706.1:p.Glu544=
XM_017005376.2:c.1632A>G	XP_016860865.1:p.Glu544=
NM_004836.7:c.2316A>G MANE Select	NP_004827.4:p.Glu772=
NM_001313915.2:c.1863A>G	NP_001300844.1:p.Glu621=