Canonical Allele Identifier: CA347592534

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874813G>T (hg19) ; chr2:g.88575295G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575295G>T , CM000664.2:g.88575295G>T	GRCh38
NC_000002.11:g.88874813G>T , CM000664.1:g.88874813G>T	GRCh37
NC_000002.10:g.88655928G>T	NCBI36
NG_016424.1:g.57282C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2016C>A
ENST00000682276.1:n.1633C>A
ENST00000682892.1:c.1735C>A	ENSP00000507214.1:p.Gln579Lys
ENST00000682952.1:n.1827C>A
ENST00000684455.1:c.1401C>A
ENST00000684642.1:c.1585C>A	ENSP00000507355.1:p.Gln529Lys
ENST00000684740.1:n.2366C>A
ENST00000303236.9:c.2188C>A MANE Select	ENSP00000307235.3:p.Gln730Lys
ENST00000652099.1:c.2382C>A
ENST00000652736.1:n.2064C>A
ENST00000303236.7:c.2188C>A	ENSP00000307235.3:p.Gln730Lys
ENST00000415570.1:c.1825C>A	ENSP00000412076.1:p.Gln609Lys
ENST00000419748.5:c.1735C>A	ENSP00000408325.1:p.Gln579Lys
ENST00000470706.1:n.48+66C>A
NM_001313915.1:c.1735C>A	NP_001300844.1:p.Gln579Lys
NM_004836.5:c.2188C>A	NP_004827.4:p.Gln730Lys
NM_004836.6:c.2188C>A	NP_004827.4:p.Gln730Lys
NR_110236.1:n.1432G>T
XM_005264649.3:c.1504C>A	XP_005264706.1:p.Gln502Lys
XR_939749.1:n.2467C>A
XM_017005376.2:c.1504C>A	XP_016860865.1:p.Gln502Lys
NM_004836.7:c.2188C>A MANE Select	NP_004827.4:p.Gln730Lys
NM_001313915.2:c.1735C>A	NP_001300844.1:p.Gln579Lys