Canonical Allele Identifier: CA347591762

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874645C>G (hg19) ; chr2:g.88575127C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575127C>G , CM000664.2:g.88575127C>G	GRCh38
NC_000002.11:g.88874645C>G , CM000664.1:g.88874645C>G	GRCh37
NC_000002.10:g.88655760C>G	NCBI36
NG_016424.1:g.57450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2184G>C
ENST00000682276.1:n.1801G>C
ENST00000682892.1:c.1903G>C	ENSP00000507214.1:p.Glu635Gln
ENST00000682952.1:n.1995G>C
ENST00000684455.1:c.1569G>C
ENST00000684642.1:c.1753G>C	ENSP00000507355.1:p.Glu585Gln
ENST00000684740.1:n.2534G>C
ENST00000303236.9:c.2356G>C MANE Select	ENSP00000307235.3:p.Glu786Gln
ENST00000652099.1:c.2550G>C
ENST00000652736.1:n.2232G>C
ENST00000303236.7:c.2356G>C	ENSP00000307235.3:p.Glu786Gln
ENST00000415570.1:c.1993G>C	ENSP00000412076.1:p.Glu665Gln
ENST00000419748.5:c.1903G>C	ENSP00000408325.1:p.Glu635Gln
ENST00000470706.1:n.49-50G>C
NM_001313915.1:c.1903G>C	NP_001300844.1:p.Glu635Gln
NM_004836.5:c.2356G>C	NP_004827.4:p.Glu786Gln
NM_004836.6:c.2356G>C	NP_004827.4:p.Glu786Gln
NR_110236.1:n.1264C>G
XM_005264649.3:c.1672G>C	XP_005264706.1:p.Glu558Gln
XM_017005376.2:c.1672G>C	XP_016860865.1:p.Glu558Gln
NM_004836.7:c.2356G>C MANE Select	NP_004827.4:p.Glu786Gln
NM_001313915.2:c.1903G>C	NP_001300844.1:p.Glu635Gln