Canonical Allele Identifier: CA347591559

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575081-C-T
• MyVariant Identifiers: chr2:g.88874599C>T (hg19) ; chr2:g.88575081C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575081C>T , CM000664.2:g.88575081C>T	GRCh38
NC_000002.11:g.88874599C>T , CM000664.1:g.88874599C>T	GRCh37
NC_000002.10:g.88655714C>T	NCBI36
NG_016424.1:g.57496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2230G>A
ENST00000682276.1:n.1847G>A
ENST00000682892.1:c.1949G>A	ENSP00000507214.1:p.Arg650Lys
ENST00000682952.1:n.2041G>A
ENST00000684455.1:c.1615G>A
ENST00000684642.1:c.1799G>A	ENSP00000507355.1:p.Arg600Lys
ENST00000684740.1:n.2580G>A
ENST00000303236.9:c.2402G>A MANE Select	ENSP00000307235.3:p.Arg801Lys
ENST00000652099.1:c.2596G>A
ENST00000652736.1:n.2278G>A
ENST00000303236.7:c.2402G>A	ENSP00000307235.3:p.Arg801Lys
ENST00000415570.1:c.2039G>A	ENSP00000412076.1:p.Arg680Lys
ENST00000419748.5:c.1949G>A	ENSP00000408325.1:p.Arg650Lys
ENST00000470706.1:n.49-4G>A
NM_001313915.1:c.1949G>A	NP_001300844.1:p.Arg650Lys
NM_004836.5:c.2402G>A	NP_004827.4:p.Arg801Lys
NM_004836.6:c.2402G>A	NP_004827.4:p.Arg801Lys
NR_110236.1:n.1218C>T
XM_005264649.3:c.1718G>A	XP_005264706.1:p.Arg573Lys
XM_017005376.2:c.1718G>A	XP_016860865.1:p.Arg573Lys
NM_004836.7:c.2402G>A MANE Select	NP_004827.4:p.Arg801Lys
NM_001313915.2:c.1949G>A	NP_001300844.1:p.Arg650Lys