Canonical Allele Identifier: CA347592224

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874748G>C (hg19) ; chr2:g.88575230G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575230G>C , CM000664.2:g.88575230G>C	GRCh38
NC_000002.11:g.88874748G>C , CM000664.1:g.88874748G>C	GRCh37
NC_000002.10:g.88655863G>C	NCBI36
NG_016424.1:g.57347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2081C>G
ENST00000682276.1:n.1698C>G
ENST00000682892.1:c.1800C>G	ENSP00000507214.1:p.Ile600Met
ENST00000682952.1:n.1892C>G
ENST00000684455.1:c.1466C>G
ENST00000684642.1:c.1650C>G	ENSP00000507355.1:p.Ile550Met
ENST00000684740.1:n.2431C>G
ENST00000303236.9:c.2253C>G MANE Select	ENSP00000307235.3:p.Ile751Met
ENST00000652099.1:c.2447C>G
ENST00000652736.1:n.2129C>G
ENST00000303236.7:c.2253C>G	ENSP00000307235.3:p.Ile751Met
ENST00000415570.1:c.1890C>G	ENSP00000412076.1:p.Ile630Met
ENST00000419748.5:c.1800C>G	ENSP00000408325.1:p.Ile600Met
ENST00000470706.1:n.48+131C>G
NM_001313915.1:c.1800C>G	NP_001300844.1:p.Ile600Met
NM_004836.5:c.2253C>G	NP_004827.4:p.Ile751Met
NM_004836.6:c.2253C>G	NP_004827.4:p.Ile751Met
NR_110236.1:n.1367G>C
XM_005264649.3:c.1569C>G	XP_005264706.1:p.Ile523Met
XM_017005376.2:c.1569C>G	XP_016860865.1:p.Ile523Met
NM_004836.7:c.2253C>G MANE Select	NP_004827.4:p.Ile751Met
NM_001313915.2:c.1800C>G	NP_001300844.1:p.Ile600Met