Canonical Allele Identifier: CA347595414

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88889993G>C (hg19) ; chr2:g.88590475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590475G>C , CM000664.2:g.88590475G>C	GRCh38
NC_000002.11:g.88889993G>C , CM000664.1:g.88889993G>C	GRCh37
NC_000002.10:g.88671108G>C	NCBI36
NG_016424.1:g.42102C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2324C>G
ENST00000682276.1:n.588C>G
ENST00000682892.1:c.680C>G	ENSP00000507214.1:p.Ala227Gly
ENST00000682952.1:n.772C>G
ENST00000684455.1:c.346C>G
ENST00000684642.1:c.530C>G	ENSP00000507355.1:p.Ala177Gly
ENST00000303236.9:c.1133C>G MANE Select	ENSP00000307235.3:p.Ala378Gly
ENST00000652099.1:c.1327C>G
ENST00000652736.1:n.1009C>G
ENST00000303236.7:c.1133C>G	ENSP00000307235.3:p.Ala378Gly
ENST00000415570.1:c.770C>G	ENSP00000412076.1:p.Ala257Gly
ENST00000419748.5:c.680C>G	ENSP00000408325.1:p.Ala227Gly
NM_001313915.1:c.680C>G	NP_001300844.1:p.Ala227Gly
NM_004836.5:c.1133C>G	NP_004827.4:p.Ala378Gly
NM_004836.6:c.1133C>G	NP_004827.4:p.Ala378Gly
XM_005264649.3:c.449C>G	XP_005264706.1:p.Ala150Gly
XR_939749.1:n.1342C>G
XM_017005376.2:c.449C>G	XP_016860865.1:p.Ala150Gly
NM_004836.7:c.1133C>G MANE Select	NP_004827.4:p.Ala378Gly
NM_001313915.2:c.680C>G	NP_001300844.1:p.Ala227Gly