Canonical Allele Identifier: CA347591609

Gene: EIF2AK3

Linked Data

• COSMIC: COSM5788531 ; COSM5788532
• MyVariant Identifiers: chr2:g.88874611C>G (hg19) ; chr2:g.88575093C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575093C>G , CM000664.2:g.88575093C>G	GRCh38
NC_000002.11:g.88874611C>G , CM000664.1:g.88874611C>G	GRCh37
NC_000002.10:g.88655726C>G	NCBI36
NG_016424.1:g.57484G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2218G>C
ENST00000682276.1:n.1835G>C
ENST00000682892.1:c.1937G>C	ENSP00000507214.1:p.Arg646Thr
ENST00000682952.1:n.2029G>C
ENST00000684455.1:c.1603G>C
ENST00000684642.1:c.1787G>C	ENSP00000507355.1:p.Arg596Thr
ENST00000684740.1:n.2568G>C
ENST00000303236.9:c.2390G>C MANE Select	ENSP00000307235.3:p.Arg797Thr
ENST00000652099.1:c.2584G>C
ENST00000652736.1:n.2266G>C
ENST00000303236.7:c.2390G>C	ENSP00000307235.3:p.Arg797Thr
ENST00000415570.1:c.2027G>C	ENSP00000412076.1:p.Arg676Thr
ENST00000419748.5:c.1937G>C	ENSP00000408325.1:p.Arg646Thr
ENST00000470706.1:n.49-16G>C
NM_001313915.1:c.1937G>C	NP_001300844.1:p.Arg646Thr
NM_004836.5:c.2390G>C	NP_004827.4:p.Arg797Thr
NM_004836.6:c.2390G>C	NP_004827.4:p.Arg797Thr
NR_110236.1:n.1230C>G
XM_005264649.3:c.1706G>C	XP_005264706.1:p.Arg569Thr
XM_017005376.2:c.1706G>C	XP_016860865.1:p.Arg569Thr
NM_004836.7:c.2390G>C MANE Select	NP_004827.4:p.Arg797Thr
NM_001313915.2:c.1937G>C	NP_001300844.1:p.Arg646Thr