Canonical Allele Identifier: CA347592362

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs750231254
• MyVariant Identifiers: chr2:g.88874775T>A (hg19) ; chr2:g.88575257T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575257T>A , CM000664.2:g.88575257T>A	GRCh38
NC_000002.11:g.88874775T>A , CM000664.1:g.88874775T>A	GRCh37
NC_000002.10:g.88655890T>A	NCBI36
NG_016424.1:g.57320A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2054A>T
ENST00000682276.1:n.1671A>T
ENST00000682892.1:c.1773A>T	ENSP00000507214.1:p.Glu591Asp
ENST00000682952.1:n.1865A>T
ENST00000684455.1:c.1439A>T
ENST00000684642.1:c.1623A>T	ENSP00000507355.1:p.Glu541Asp
ENST00000684740.1:n.2404A>T
ENST00000303236.9:c.2226A>T MANE Select	ENSP00000307235.3:p.Glu742Asp
ENST00000652099.1:c.2420A>T
ENST00000652736.1:n.2102A>T
ENST00000303236.7:c.2226A>T	ENSP00000307235.3:p.Glu742Asp
ENST00000415570.1:c.1863A>T	ENSP00000412076.1:p.Glu621Asp
ENST00000419748.5:c.1773A>T	ENSP00000408325.1:p.Glu591Asp
ENST00000470706.1:n.48+104A>T
NM_001313915.1:c.1773A>T	NP_001300844.1:p.Glu591Asp
NM_004836.5:c.2226A>T	NP_004827.4:p.Glu742Asp
NM_004836.6:c.2226A>T	NP_004827.4:p.Glu742Asp
NR_110236.1:n.1394T>A
XM_005264649.3:c.1542A>T	XP_005264706.1:p.Glu514Asp
XM_017005376.2:c.1542A>T	XP_016860865.1:p.Glu514Asp
NM_004836.7:c.2226A>T MANE Select	NP_004827.4:p.Glu742Asp
NM_001313915.2:c.1773A>T	NP_001300844.1:p.Glu591Asp