Canonical Allele Identifier: CA347592234

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874750T>C (hg19) ; chr2:g.88575232T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575232T>C , CM000664.2:g.88575232T>C	GRCh38
NC_000002.11:g.88874750T>C , CM000664.1:g.88874750T>C	GRCh37
NC_000002.10:g.88655865T>C	NCBI36
NG_016424.1:g.57345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2079A>G
ENST00000682276.1:n.1696A>G
ENST00000682892.1:c.1798A>G	ENSP00000507214.1:p.Ile600Val
ENST00000682952.1:n.1890A>G
ENST00000684455.1:c.1464A>G
ENST00000684642.1:c.1648A>G	ENSP00000507355.1:p.Ile550Val
ENST00000684740.1:n.2429A>G
ENST00000303236.9:c.2251A>G MANE Select	ENSP00000307235.3:p.Ile751Val
ENST00000652099.1:c.2445A>G
ENST00000652736.1:n.2127A>G
ENST00000303236.7:c.2251A>G	ENSP00000307235.3:p.Ile751Val
ENST00000415570.1:c.1888A>G	ENSP00000412076.1:p.Ile630Val
ENST00000419748.5:c.1798A>G	ENSP00000408325.1:p.Ile600Val
ENST00000470706.1:n.48+129A>G
NM_001313915.1:c.1798A>G	NP_001300844.1:p.Ile600Val
NM_004836.5:c.2251A>G	NP_004827.4:p.Ile751Val
NM_004836.6:c.2251A>G	NP_004827.4:p.Ile751Val
NR_110236.1:n.1369T>C
XM_005264649.3:c.1567A>G	XP_005264706.1:p.Ile523Val
XM_017005376.2:c.1567A>G	XP_016860865.1:p.Ile523Val
NM_004836.7:c.2251A>G MANE Select	NP_004827.4:p.Ile751Val
NM_001313915.2:c.1798A>G	NP_001300844.1:p.Ile600Val