Canonical Allele Identifier: CA347592430

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874791T>C (hg19) ; chr2:g.88575273T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575273T>C , CM000664.2:g.88575273T>C	GRCh38
NC_000002.11:g.88874791T>C , CM000664.1:g.88874791T>C	GRCh37
NC_000002.10:g.88655906T>C	NCBI36
NG_016424.1:g.57304A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2038A>G
ENST00000682276.1:n.1655A>G
ENST00000682892.1:c.1757A>G	ENSP00000507214.1:p.Gln586Arg
ENST00000682952.1:n.1849A>G
ENST00000684455.1:c.1423A>G
ENST00000684642.1:c.1607A>G	ENSP00000507355.1:p.Gln536Arg
ENST00000684740.1:n.2388A>G
ENST00000303236.9:c.2210A>G MANE Select	ENSP00000307235.3:p.Gln737Arg
ENST00000652099.1:c.2404A>G
ENST00000652736.1:n.2086A>G
ENST00000303236.7:c.2210A>G	ENSP00000307235.3:p.Gln737Arg
ENST00000415570.1:c.1847A>G	ENSP00000412076.1:p.Gln616Arg
ENST00000419748.5:c.1757A>G	ENSP00000408325.1:p.Gln586Arg
ENST00000470706.1:n.48+88A>G
NM_001313915.1:c.1757A>G	NP_001300844.1:p.Gln586Arg
NM_004836.5:c.2210A>G	NP_004827.4:p.Gln737Arg
NM_004836.6:c.2210A>G	NP_004827.4:p.Gln737Arg
NR_110236.1:n.1410T>C
XM_005264649.3:c.1526A>G	XP_005264706.1:p.Gln509Arg
XR_939749.1:n.2489A>G
XM_017005376.2:c.1526A>G	XP_016860865.1:p.Gln509Arg
NM_004836.7:c.2210A>G MANE Select	NP_004827.4:p.Gln737Arg
NM_001313915.2:c.1757A>G	NP_001300844.1:p.Gln586Arg