Canonical Allele Identifier: CA347592313

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1573393261
• MyVariant Identifiers: chr2:g.88874763C>T (hg19) ; chr2:g.88575245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575245C>T , CM000664.2:g.88575245C>T	GRCh38
NC_000002.11:g.88874763C>T , CM000664.1:g.88874763C>T	GRCh37
NC_000002.10:g.88655878C>T	NCBI36
NG_016424.1:g.57332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2066G>A
ENST00000682276.1:n.1683G>A
ENST00000682892.1:c.1785G>A	ENSP00000507214.1:p.Met595Ile
ENST00000682952.1:n.1877G>A
ENST00000684455.1:c.1451G>A
ENST00000684642.1:c.1635G>A	ENSP00000507355.1:p.Met545Ile
ENST00000684740.1:n.2416G>A
ENST00000303236.9:c.2238G>A MANE Select	ENSP00000307235.3:p.Met746Ile
ENST00000652099.1:c.2432G>A
ENST00000652736.1:n.2114G>A
ENST00000303236.7:c.2238G>A	ENSP00000307235.3:p.Met746Ile
ENST00000415570.1:c.1875G>A	ENSP00000412076.1:p.Met625Ile
ENST00000419748.5:c.1785G>A	ENSP00000408325.1:p.Met595Ile
ENST00000470706.1:n.48+116G>A
NM_001313915.1:c.1785G>A	NP_001300844.1:p.Met595Ile
NM_004836.5:c.2238G>A	NP_004827.4:p.Met746Ile
NM_004836.6:c.2238G>A	NP_004827.4:p.Met746Ile
NR_110236.1:n.1382C>T
XM_005264649.3:c.1554G>A	XP_005264706.1:p.Met518Ile
XM_017005376.2:c.1554G>A	XP_016860865.1:p.Met518Ile
NM_004836.7:c.2238G>A MANE Select	NP_004827.4:p.Met746Ile
NM_001313915.2:c.1785G>A	NP_001300844.1:p.Met595Ile