Canonical Allele Identifier: CA427445338

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874727T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575209T>A , CM000664.2:g.88575209T>A	GRCh38
NC_000002.11:g.88874727T>A , CM000664.1:g.88874727T>A	GRCh37
NC_000002.10:g.88655842T>A	NCBI36
NG_016424.1:g.57368A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2102A>T
ENST00000682276.1:n.1719A>T
ENST00000682892.1:c.1821A>T	ENSP00000507214.1:p.Ala607=
ENST00000682952.1:n.1913A>T
ENST00000684455.1:c.1487A>T
ENST00000684642.1:c.1671A>T	ENSP00000507355.1:p.Ala557=
ENST00000684740.1:n.2452A>T
ENST00000303236.9:c.2274A>T MANE Select	ENSP00000307235.3:p.Ala758=
ENST00000652099.1:c.2468A>T
ENST00000652736.1:n.2150A>T
ENST00000303236.7:c.2274A>T	ENSP00000307235.3:p.Ala758=
ENST00000415570.1:c.1911A>T	ENSP00000412076.1:p.Ala637=
ENST00000419748.5:c.1821A>T	ENSP00000408325.1:p.Ala607=
ENST00000470706.1:n.49-132A>T
NM_001313915.1:c.1821A>T	NP_001300844.1:p.Ala607=
NM_004836.5:c.2274A>T	NP_004827.4:p.Ala758=
NM_004836.6:c.2274A>T	NP_004827.4:p.Ala758=
NR_110236.1:n.1346T>A
XM_005264649.3:c.1590A>T	XP_005264706.1:p.Ala530=
XM_017005376.2:c.1590A>T	XP_016860865.1:p.Ala530=
NM_004836.7:c.2274A>T MANE Select	NP_004827.4:p.Ala758=
NM_001313915.2:c.1821A>T	NP_001300844.1:p.Ala607=