Canonical Allele Identifier: CA347593944

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88882949G>C (hg19) ; chr2:g.88583431G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583431G>C , CM000664.2:g.88583431G>C	GRCh38
NC_000002.11:g.88882949G>C , CM000664.1:g.88882949G>C	GRCh37
NC_000002.10:g.88664064G>C	NCBI36
NG_016424.1:g.49146C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1207C>G
ENST00000682892.1:c.1309C>G	ENSP00000507214.1:p.Arg437Gly
ENST00000682952.1:n.1401C>G
ENST00000684455.1:c.975C>G
ENST00000684642.1:c.1159C>G	ENSP00000507355.1:p.Arg387Gly
ENST00000303236.9:c.1762C>G MANE Select	ENSP00000307235.3:p.Arg588Gly
ENST00000652099.1:c.1956C>G
ENST00000652736.1:n.1638C>G
ENST00000303236.7:c.1762C>G	ENSP00000307235.3:p.Arg588Gly
ENST00000415570.1:c.1399C>G	ENSP00000412076.1:p.Arg467Gly
ENST00000419748.5:c.1309C>G	ENSP00000408325.1:p.Arg437Gly
NM_001313915.1:c.1309C>G	NP_001300844.1:p.Arg437Gly
NM_004836.5:c.1762C>G	NP_004827.4:p.Arg588Gly
NM_004836.6:c.1762C>G	NP_004827.4:p.Arg588Gly
XM_005264649.3:c.1078C>G	XP_005264706.1:p.Arg360Gly
XR_939749.1:n.1971C>G
XM_017005376.2:c.1078C>G	XP_016860865.1:p.Arg360Gly
NM_004836.7:c.1762C>G MANE Select	NP_004827.4:p.Arg588Gly
NM_001313915.2:c.1309C>G	NP_001300844.1:p.Arg437Gly