Canonical Allele Identifier: CA347592922

Gene: EIF2AK3

Linked Data

• COSMIC: COSM5733575 ; COSM5733576
• MyVariant Identifiers: chr2:g.88874902A>C (hg19) ; chr2:g.88575384A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575384A>C , CM000664.2:g.88575384A>C	GRCh38
NC_000002.11:g.88874902A>C , CM000664.1:g.88874902A>C	GRCh37
NC_000002.10:g.88656017A>C	NCBI36
NG_016424.1:g.57193T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1927T>G
ENST00000682276.1:n.1544T>G
ENST00000682892.1:c.1646T>G	ENSP00000507214.1:p.Met549Arg
ENST00000682952.1:n.1738T>G
ENST00000684455.1:c.1312T>G
ENST00000684642.1:c.1496T>G	ENSP00000507355.1:p.Met499Arg
ENST00000684740.1:n.2277T>G
ENST00000303236.9:c.2099T>G MANE Select	ENSP00000307235.3:p.Met700Arg
ENST00000652099.1:c.2293T>G
ENST00000652736.1:n.1975T>G
ENST00000303236.7:c.2099T>G	ENSP00000307235.3:p.Met700Arg
ENST00000415570.1:c.1736T>G	ENSP00000412076.1:p.Met579Arg
ENST00000419748.5:c.1646T>G	ENSP00000408325.1:p.Met549Arg
ENST00000470706.1:n.25T>G
ENST00000478003.1:n.665T>G
NM_001313915.1:c.1646T>G	NP_001300844.1:p.Met549Arg
NM_004836.5:c.2099T>G	NP_004827.4:p.Met700Arg
NM_004836.6:c.2099T>G	NP_004827.4:p.Met700Arg
NR_110236.1:n.1521A>C
XM_005264649.3:c.1415T>G	XP_005264706.1:p.Met472Arg
XR_939749.1:n.2378T>G
XM_017005376.2:c.1415T>G	XP_016860865.1:p.Met472Arg
NM_004836.7:c.2099T>G MANE Select	NP_004827.4:p.Met700Arg
NM_001313915.2:c.1646T>G	NP_001300844.1:p.Met549Arg