Canonical Allele Identifier: CA347592987

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874935G>T (hg19) ; chr2:g.88575417G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575417G>T , CM000664.2:g.88575417G>T	GRCh38
NC_000002.11:g.88874935G>T , CM000664.1:g.88874935G>T	GRCh37
NC_000002.10:g.88656050G>T	NCBI36
NG_016424.1:g.57160C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1894C>A
ENST00000682276.1:n.1511C>A
ENST00000682892.1:c.1613C>A	ENSP00000507214.1:p.Pro538Gln
ENST00000682952.1:n.1705C>A
ENST00000684455.1:c.1279C>A
ENST00000684642.1:c.1463C>A	ENSP00000507355.1:p.Pro488Gln
ENST00000684740.1:n.2244C>A
ENST00000303236.9:c.2066C>A MANE Select	ENSP00000307235.3:p.Pro689Gln
ENST00000652099.1:c.2260C>A
ENST00000652736.1:n.1942C>A
ENST00000303236.7:c.2066C>A	ENSP00000307235.3:p.Pro689Gln
ENST00000415570.1:c.1703C>A	ENSP00000412076.1:p.Pro568Gln
ENST00000419748.5:c.1613C>A	ENSP00000408325.1:p.Pro538Gln
ENST00000478003.1:n.632C>A
NM_001313915.1:c.1613C>A	NP_001300844.1:p.Pro538Gln
NM_004836.5:c.2066C>A	NP_004827.4:p.Pro689Gln
NM_004836.6:c.2066C>A	NP_004827.4:p.Pro689Gln
NR_110236.1:n.1554G>T
XM_005264649.3:c.1382C>A	XP_005264706.1:p.Pro461Gln
XR_939749.1:n.2345C>A
XM_017005376.2:c.1382C>A	XP_016860865.1:p.Pro461Gln
NM_004836.7:c.2066C>A MANE Select	NP_004827.4:p.Pro689Gln
NM_001313915.2:c.1613C>A	NP_001300844.1:p.Pro538Gln