Canonical Allele Identifier: CA347592073

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874717G>T (hg19) ; chr2:g.88575199G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575199G>T , CM000664.2:g.88575199G>T	GRCh38
NC_000002.11:g.88874717G>T , CM000664.1:g.88874717G>T	GRCh37
NC_000002.10:g.88655832G>T	NCBI36
NG_016424.1:g.57378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2112C>A
ENST00000682276.1:n.1729C>A
ENST00000682892.1:c.1831C>A	ENSP00000507214.1:p.Gln611Lys
ENST00000682952.1:n.1923C>A
ENST00000684455.1:c.1497C>A
ENST00000684642.1:c.1681C>A	ENSP00000507355.1:p.Gln561Lys
ENST00000684740.1:n.2462C>A
ENST00000303236.9:c.2284C>A MANE Select	ENSP00000307235.3:p.Gln762Lys
ENST00000652099.1:c.2478C>A
ENST00000652736.1:n.2160C>A
ENST00000303236.7:c.2284C>A	ENSP00000307235.3:p.Gln762Lys
ENST00000415570.1:c.1921C>A	ENSP00000412076.1:p.Gln641Lys
ENST00000419748.5:c.1831C>A	ENSP00000408325.1:p.Gln611Lys
ENST00000470706.1:n.49-122C>A
NM_001313915.1:c.1831C>A	NP_001300844.1:p.Gln611Lys
NM_004836.5:c.2284C>A	NP_004827.4:p.Gln762Lys
NM_004836.6:c.2284C>A	NP_004827.4:p.Gln762Lys
NR_110236.1:n.1336G>T
XM_005264649.3:c.1600C>A	XP_005264706.1:p.Gln534Lys
XM_017005376.2:c.1600C>A	XP_016860865.1:p.Gln534Lys
NM_004836.7:c.2284C>A MANE Select	NP_004827.4:p.Gln762Lys
NM_001313915.2:c.1831C>A	NP_001300844.1:p.Gln611Lys