Canonical Allele Identifier: CA347595666

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88890104G>C (hg19) ; chr2:g.88590586G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590586G>C , CM000664.2:g.88590586G>C	GRCh38
NC_000002.11:g.88890104G>C , CM000664.1:g.88890104G>C	GRCh37
NC_000002.10:g.88671219G>C	NCBI36
NG_016424.1:g.41991C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2213C>G
ENST00000682276.1:n.477C>G
ENST00000682892.1:c.569C>G	ENSP00000507214.1:p.Ser190Cys
ENST00000682952.1:n.661C>G
ENST00000684455.1:c.235C>G
ENST00000684642.1:c.419C>G	ENSP00000507355.1:p.Ser140Cys
ENST00000303236.9:c.1022C>G MANE Select	ENSP00000307235.3:p.Ser341Cys
ENST00000652099.1:c.1216C>G
ENST00000652736.1:n.898C>G
ENST00000303236.7:c.1022C>G	ENSP00000307235.3:p.Ser341Cys
ENST00000415570.1:c.659C>G	ENSP00000412076.1:p.Ser220Cys
ENST00000419748.5:c.569C>G	ENSP00000408325.1:p.Ser190Cys
NM_001313915.1:c.569C>G	NP_001300844.1:p.Ser190Cys
NM_004836.5:c.1022C>G	NP_004827.4:p.Ser341Cys
NM_004836.6:c.1022C>G	NP_004827.4:p.Ser341Cys
XM_005264649.3:c.338C>G	XP_005264706.1:p.Ser113Cys
XR_939749.1:n.1231C>G
XM_017005376.2:c.338C>G	XP_016860865.1:p.Ser113Cys
NM_004836.7:c.1022C>G MANE Select	NP_004827.4:p.Ser341Cys
NM_001313915.2:c.569C>G	NP_001300844.1:p.Ser190Cys