Canonical Allele Identifier: CA427445539

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874814G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575296G>A , CM000664.2:g.88575296G>A	GRCh38
NC_000002.11:g.88874814G>A , CM000664.1:g.88874814G>A	GRCh37
NC_000002.10:g.88655929G>A	NCBI36
NG_016424.1:g.57281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2015C>T
ENST00000682276.1:n.1632C>T
ENST00000682892.1:c.1734C>T	ENSP00000507214.1:p.Asp578=
ENST00000682952.1:n.1826C>T
ENST00000684455.1:c.1400C>T
ENST00000684642.1:c.1584C>T	ENSP00000507355.1:p.Asp528=
ENST00000684740.1:n.2365C>T
ENST00000303236.9:c.2187C>T MANE Select	ENSP00000307235.3:p.Asp729=
ENST00000652099.1:c.2381C>T
ENST00000652736.1:n.2063C>T
ENST00000303236.7:c.2187C>T	ENSP00000307235.3:p.Asp729=
ENST00000415570.1:c.1824C>T	ENSP00000412076.1:p.Asp608=
ENST00000419748.5:c.1734C>T	ENSP00000408325.1:p.Asp578=
ENST00000470706.1:n.48+65C>T
NM_001313915.1:c.1734C>T	NP_001300844.1:p.Asp578=
NM_004836.5:c.2187C>T	NP_004827.4:p.Asp729=
NM_004836.6:c.2187C>T	NP_004827.4:p.Asp729=
NR_110236.1:n.1433G>A
XM_005264649.3:c.1503C>T	XP_005264706.1:p.Asp501=
XR_939749.1:n.2466C>T
XM_017005376.2:c.1503C>T	XP_016860865.1:p.Asp501=
NM_004836.7:c.2187C>T MANE Select	NP_004827.4:p.Asp729=
NM_001313915.2:c.1734C>T	NP_001300844.1:p.Asp578=