Canonical Allele Identifier: CA347592344

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874771A>C (hg19) ; chr2:g.88575253A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575253A>C , CM000664.2:g.88575253A>C	GRCh38
NC_000002.11:g.88874771A>C , CM000664.1:g.88874771A>C	GRCh37
NC_000002.10:g.88655886A>C	NCBI36
NG_016424.1:g.57324T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2058T>G
ENST00000682276.1:n.1675T>G
ENST00000682892.1:c.1777T>G	ENSP00000507214.1:p.Ser593Ala
ENST00000682952.1:n.1869T>G
ENST00000684455.1:c.1443T>G
ENST00000684642.1:c.1627T>G	ENSP00000507355.1:p.Ser543Ala
ENST00000684740.1:n.2408T>G
ENST00000303236.9:c.2230T>G MANE Select	ENSP00000307235.3:p.Ser744Ala
ENST00000652099.1:c.2424T>G
ENST00000652736.1:n.2106T>G
ENST00000303236.7:c.2230T>G	ENSP00000307235.3:p.Ser744Ala
ENST00000415570.1:c.1867T>G	ENSP00000412076.1:p.Ser623Ala
ENST00000419748.5:c.1777T>G	ENSP00000408325.1:p.Ser593Ala
ENST00000470706.1:n.48+108T>G
NM_001313915.1:c.1777T>G	NP_001300844.1:p.Ser593Ala
NM_004836.5:c.2230T>G	NP_004827.4:p.Ser744Ala
NM_004836.6:c.2230T>G	NP_004827.4:p.Ser744Ala
NR_110236.1:n.1390A>C
XM_005264649.3:c.1546T>G	XP_005264706.1:p.Ser516Ala
XM_017005376.2:c.1546T>G	XP_016860865.1:p.Ser516Ala
NM_004836.7:c.2230T>G MANE Select	NP_004827.4:p.Ser744Ala
NM_001313915.2:c.1777T>G	NP_001300844.1:p.Ser593Ala