Canonical Allele Identifier: CA347592553

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575300-C-A
• MyVariant Identifiers: chr2:g.88874818C>A (hg19) ; chr2:g.88575300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575300C>A , CM000664.2:g.88575300C>A	GRCh38
NC_000002.11:g.88874818C>A , CM000664.1:g.88874818C>A	GRCh37
NC_000002.10:g.88655933C>A	NCBI36
NG_016424.1:g.57277G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2011G>T
ENST00000682276.1:n.1628G>T
ENST00000682892.1:c.1730G>T	ENSP00000507214.1:p.Cys577Phe
ENST00000682952.1:n.1822G>T
ENST00000684455.1:c.1396G>T
ENST00000684642.1:c.1580G>T	ENSP00000507355.1:p.Cys527Phe
ENST00000684740.1:n.2361G>T
ENST00000303236.9:c.2183G>T MANE Select	ENSP00000307235.3:p.Cys728Phe
ENST00000652099.1:c.2377G>T
ENST00000652736.1:n.2059G>T
ENST00000303236.7:c.2183G>T	ENSP00000307235.3:p.Cys728Phe
ENST00000415570.1:c.1820G>T	ENSP00000412076.1:p.Cys607Phe
ENST00000419748.5:c.1730G>T	ENSP00000408325.1:p.Cys577Phe
ENST00000470706.1:n.48+61G>T
NM_001313915.1:c.1730G>T	NP_001300844.1:p.Cys577Phe
NM_004836.5:c.2183G>T	NP_004827.4:p.Cys728Phe
NM_004836.6:c.2183G>T	NP_004827.4:p.Cys728Phe
NR_110236.1:n.1437C>A
XM_005264649.3:c.1499G>T	XP_005264706.1:p.Cys500Phe
XR_939749.1:n.2462G>T
XM_017005376.2:c.1499G>T	XP_016860865.1:p.Cys500Phe
NM_004836.7:c.2183G>T MANE Select	NP_004827.4:p.Cys728Phe
NM_001313915.2:c.1730G>T	NP_001300844.1:p.Cys577Phe