Canonical Allele Identifier: CA347592970

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874928A>T (hg19) ; chr2:g.88575410A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575410A>T , CM000664.2:g.88575410A>T	GRCh38
NC_000002.11:g.88874928A>T , CM000664.1:g.88874928A>T	GRCh37
NC_000002.10:g.88656043A>T	NCBI36
NG_016424.1:g.57167T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1901T>A
ENST00000682276.1:n.1518T>A
ENST00000682892.1:c.1620T>A	ENSP00000507214.1:p.Asp540Glu
ENST00000682952.1:n.1712T>A
ENST00000684455.1:c.1286T>A
ENST00000684642.1:c.1470T>A	ENSP00000507355.1:p.Asp490Glu
ENST00000684740.1:n.2251T>A
ENST00000303236.9:c.2073T>A MANE Select	ENSP00000307235.3:p.Asp691Glu
ENST00000652099.1:c.2267T>A
ENST00000652736.1:n.1949T>A
ENST00000303236.7:c.2073T>A	ENSP00000307235.3:p.Asp691Glu
ENST00000415570.1:c.1710T>A	ENSP00000412076.1:p.Asp570Glu
ENST00000419748.5:c.1620T>A	ENSP00000408325.1:p.Asp540Glu
ENST00000478003.1:n.639T>A
NM_001313915.1:c.1620T>A	NP_001300844.1:p.Asp540Glu
NM_004836.5:c.2073T>A	NP_004827.4:p.Asp691Glu
NM_004836.6:c.2073T>A	NP_004827.4:p.Asp691Glu
NR_110236.1:n.1547A>T
XM_005264649.3:c.1389T>A	XP_005264706.1:p.Asp463Glu
XR_939749.1:n.2352T>A
XM_017005376.2:c.1389T>A	XP_016860865.1:p.Asp463Glu
NM_004836.7:c.2073T>A MANE Select	NP_004827.4:p.Asp691Glu
NM_001313915.2:c.1620T>A	NP_001300844.1:p.Asp540Glu