Canonical Allele Identifier: CA347592206

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2489052
• ClinVar RCV Id: RCV003200891
• gnomAD v4: 2-88575227-A-T
• MyVariant Identifiers: chr2:g.88874745A>T (hg19) ; chr2:g.88575227A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575227A>T , CM000664.2:g.88575227A>T	GRCh38
NC_000002.11:g.88874745A>T , CM000664.1:g.88874745A>T	GRCh37
NC_000002.10:g.88655860A>T	NCBI36
NG_016424.1:g.57350T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2084T>A
ENST00000682276.1:n.1701T>A
ENST00000682892.1:c.1803T>A	ENSP00000507214.1:p.Ser601Arg
ENST00000682952.1:n.1895T>A
ENST00000684455.1:c.1469T>A
ENST00000684642.1:c.1653T>A	ENSP00000507355.1:p.Ser551Arg
ENST00000684740.1:n.2434T>A
ENST00000303236.9:c.2256T>A MANE Select	ENSP00000307235.3:p.Ser752Arg
ENST00000652099.1:c.2450T>A
ENST00000652736.1:n.2132T>A
ENST00000303236.7:c.2256T>A	ENSP00000307235.3:p.Ser752Arg
ENST00000415570.1:c.1893T>A	ENSP00000412076.1:p.Ser631Arg
ENST00000419748.5:c.1803T>A	ENSP00000408325.1:p.Ser601Arg
ENST00000470706.1:n.48+134T>A
NM_001313915.1:c.1803T>A	NP_001300844.1:p.Ser601Arg
NM_004836.5:c.2256T>A	NP_004827.4:p.Ser752Arg
NM_004836.6:c.2256T>A	NP_004827.4:p.Ser752Arg
NR_110236.1:n.1364A>T
XM_005264649.3:c.1572T>A	XP_005264706.1:p.Ser524Arg
XM_017005376.2:c.1572T>A	XP_016860865.1:p.Ser524Arg
NM_004836.7:c.2256T>A MANE Select	NP_004827.4:p.Ser752Arg
NM_001313915.2:c.1803T>A	NP_001300844.1:p.Ser601Arg